Endocrinology and Metabolism

Review Article

Thyroid
The Physiological Functions and Polymorphisms of Type II Deiodinase: Yan Deng, Yi Han, Sheng Gao, Wei Dong, Yang Yu; Endocrinol Metab. 2023;38(2):190-202. Published online April 27, 2023; DOI: https://doi.org/10.3803/EnM.2022.1599

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Type II deiodinase (DIO2) is thought to provide triiodothyronine (T3) to the nucleus to meet intracellular needs by deiodinating the prohormone thyroxine. DIO2 is expressed widely in many tissues and plays an important role in a variety of physiological processes, such as controlling T3 content in developing tissues (e.g., bone, muscles, and skin) and the adult brain, and regulating adaptive thermogenesis in brown adipose tissue (BAT). However, the identification and cloning of DIO2 have been challenging. In recent years, several clinical investigations have focused on the Thr92Ala polymorphism, which is closely correlated with clinical syndromes such as type 2 diabetes, obesity, hypertension, and osteoarthritis. Thr92Ala-DIO2 was also found to be related to bone and neurodegenerative diseases and tumors. However, relatively few reviews have synthesized research on individual deiodinases, especially DIO2, in the past 5 years. This review summarizes current knowledge regarding the physiological functions of DIO2 in thyroid hormone signaling and adaptive thermogenesis in BAT and the brain, as well as the associations between Thr92Ala-DIO2 and bone and neurodegenerative diseases and tumors. This discussion is expected to provide insights into the physiological functions of DIO2 and the clinical syndromes associated with Thr92Ala-DIO2.

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Noncatalytic Reductive Deiodination of Thyroid Hormones. Electrochemistry and Quantum Chemical Calculations
Piotr P. Romańczyk, Stefan S. Kurek
ChemElectroChem.2024;[Epub] CrossRef

Original Article

Calcium & Bone Metabolism
Unveiling Genetic Variants Underlying Vitamin D Deficiency in Multiple Korean Cohorts by a Genome-Wide Association Study: Ye An Kim, Ji Won Yoon, Young Lee, Hyuk Jin Choi, Jae Won Yun, Eunsin Bae, Seung-Hyun Kwon, So Eun Ahn, Ah-Ra Do, Heejin Jin, Sungho Won, Do Joon Park, Chan Soo Shin, Je Hyun Seo; Endocrinol Metab. 2021;36(6):1189-1200. Published online December 2, 2021; DOI: https://doi.org/10.3803/EnM.2021.1241

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Background
Epidemiological data have shown that vitamin D deficiency is highly prevalent in Korea. Genetic factors influencing vitamin D deficiency in humans have been studied in Europe but are less known in East Asian countries, including Korea. We aimed to investigate the genetic factors related to vitamin D levels in Korean people using a genome-wide association study (GWAS).
Methods
We included 12,642 subjects from three different genetic cohorts consisting of Korean participants. The GWAS was performed on 7,590 individuals using linear or logistic regression meta- and mega-analyses. After identifying significant single nucleotide polymorphisms (SNPs), we calculated heritability and performed replication and rare variant analyses. In addition, expression quantitative trait locus (eQTL) analysis for significant SNPs was performed.
Results
rs12803256, in the actin epsilon 1, pseudogene (ACTE1P) gene, was identified as a novel polymorphism associated with vitamin D deficiency. SNPs, such as rs11723621 and rs7041, in the group-specific component gene (GC) and rs11023332 in the phosphodiesterase 3B (PDE3B) gene were significantly associated with vitamin D deficiency in both meta- and mega-analyses. The SNP heritability of the vitamin D concentration was estimated to be 7.23%. eQTL analysis for rs12803256 for the genes related to vitamin D metabolism, including glutamine-dependent NAD(+) synthetase (NADSYN1) and 7-dehydrocholesterol reductase (DHCR7), showed significantly different expression according to alleles.
Conclusion
The genetic factors underlying vitamin D deficiency in Korea included polymorphisms in the GC, PDE3B, NADSYN1, and ACTE1P genes. The biological mechanism of a non-coding SNP (rs12803256) for DHCR7/NADSYN1 on vitamin D concentrations is unclear, warranting further investigations.

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Review Article

Thyroid
Deiodinases and the Three Types of Thyroid Hormone Deiodination Reactions: Laura Sabatino, Cristina Vassalle, Cristina Del Seppia, Giorgio Iervasi; Endocrinol Metab. 2021;36(5):952-964. Published online October 21, 2021; DOI: https://doi.org/10.3803/EnM.2021.1198

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Thyroid hormone (TH) signaling is strictly regulated by iodothyronine deiodinase activity, which both preserves the circulating levels of the biologically active triiodothyronine (T3) and regulates TH homeostasis at the local level, in a cell- and time-dependent manner. Three deiodinases have been identified—namely iodothyronine deiodinase 1 (DIO1), DIO2, and DIO3—that differ in their catalytic properties and tissue distribution. The deiodinases represent a dynamic system that changes in the different stages of life according to their functions and roles in various cell types and tissues. Deiodinase activity at the tissue level permits cell-targeted fine regulation of TH homeostasis, mediating the activation (DIO1 and DIO2) and inactivation (DIO3) of THs. Deiodinase homeostasis is the driving force that leads T3-target cells towards customized TH signaling, which takes into account both the hormonal circulating levels and the tissue-specific response. This review analyzes the complex role of deiodinases in physiological and pathological contexts, exploring new challenges and opportunities deriving from a deeper knowledge of the dynamics underlying their roles and functions.

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Noncatalytic Reductive Deiodination of Thyroid Hormones. Electrochemistry and Quantum Chemical Calculations
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Original Articles

Thyroid
Programmed Cell Death-Ligand 1 (PD-L1) gene Single Nucleotide Polymorphism in Graves’ Disease and Hashimoto’s Thyroiditis in Korean Patients: Jee Hee Yoon, Min-ho Shin, Hee Nam Kim, Wonsuk Choi, Ji Yong Park, A Ram Hong, Hee Kyung Kim, Ho-Cheol Kang; Endocrinol Metab. 2021;36(3):599-606. Published online June 2, 2021; DOI: https://doi.org/10.3803/EnM.2021.965

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Background
Programmed cell death-ligand 1 (PD-L1) has an important role in regulating immune reactions by binding to programmed death 1 (PD-1) on immune cells, which could prevent the exacerbation of autoimmune thyroid disease (AITD). The aim of this study was to evaluate the association of PD-L1 polymorphism with AITD, including Graves’ disease (GD) and Hashimoto’s thyroiditis (HT).
Methods
A total of 189 GD patients, 234 HT patients, and 846 healthy age- and sex-matched controls were enrolled in this study. We analyzed PD-L1 single nucleotide polymorphism (SNP) (rs822339) and investigated the associations with clinical disease course and outcome.
Results
Genotype frequency at the PD-L1 marker RS822339 in GD (P=0.219) and HT (P=0.764) patients did not differ from that among healthy controls. In patients with GD, the A/G or G/G genotype group demonstrated higher TBII titer (20.6±20.5 vs. 28.0± 25.8, P=0.044) and longer treatment duration (39.0±40.4 months vs. 62.4±65.0 months, P=0.003) compared to the A/A genotype group. Among patients in whom anti-thyroid peroxidase (TPO) antibody was measured after treatment of GD, post-treatment antiTPO positivity was higher in the A/G or G/G genotype group compared to the A/A genotype group (48.1% vs. 69.9%, P=0.045). Among patients with HT, there was no significant difference of anti-TPO antibody positivity (79.4% vs. 68.6%, P=0.121), anti-thyroglobulin antibody positivity (80.9% vs. 84.7%, P=0.661), or development to overt hypothyroidism (68.0% vs. 71.1%, P=0.632) between the A/A genotype group and the A/G or G/G genotype group.
Conclusion
The genotype frequency of PD-L1 (rs822339) is not different in patients with AITD compared with healthy controls. The intact PD-1/PD-L1 pathway in GD and HT might be important to maintain chronicity of AITD by protecting immune tolerance. However, the PD-L1 SNP could be associated with difficulty in achieving remission in patients with GD, which may be helpful to predict the possibility of longer treatment. Further studies are required to investigate the complex immune tolerance system in patients with AITD.

Citations

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Synergistic effects of BTN3A1, SHP2, CD274, and STAT3 gene polymorphisms on the risk of systemic lupus erythematosus: a multifactorial dimensional reduction analysis
Yang-Yang Tang, Wang-Dong Xu, Lu Fu, Xiao-Yan Liu, An-Fang Huang
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Estrogen Receptor Gene Polymorphism, Urinary Estrogen Metabolites and Bone Mineral Density in Korean Postmenopausal Women.: Ji Hyun Lee, Sung Kil Lim, Young Jun Won, Seok Ho Kwon, Bong Soo Cha, Young Duk Song, Hyun Chul Lee, Kap Bum Huh; J Korean Endocr Soc. 1996;11(4):468-478. Published online November 7, 2019

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Abstract PDF: Background
Estrogen status is important for maintaining the homeostasis of bone. Estrogen has direct effects on bone cells, through binding to the high-affinity estrogen receptor. Several recent studies suggest that there might be genetically determined variations in biosynthesis and function of estrogen receptor in postmenopausal osteoporosis. Also the main cause of postmenopausal osteoporosis is decreased level of serum estrogen, whereas there had been some suggestion that the remaining estrogen have some effect on bone metabolism after menopause. We investigated the relationship between estrogen receptor gene PvulI polymorphism and bone mineral density(BMD), and the relationship between 18 urinary metabolites of estrogen and BMD in Korean postmeno- pausal osteoporosis. Methods: We examined the PvuII polymorphism of the estrogen receptor gene in 5' upstream region and the first intron by restrietion frapnent length polymorphism analysis in 62 postmeno- pausal wornen, BMD was measured by DEXA. The urinary estrogen metabolites were determined by GC/MS(Gas Chromatography-Mass Spectrometry) at Korean Institute of Science and Techno- logy Doping Control Center. Results: BMD of the spine and the femoral neck correlated with body weight, height, body mass index as we expected. There was no polymorphism of PvuII restriction site on 5 upstream region of estrogen receptor gene. Whereas the prevalen~ee of the PP, Pp, pp genotype in the first intron of estrogen receptor was 12.9%, 45.2%, 41.9%, respectively. But, there was no correlation between PvuII genotype and the spinel and femoral neck BMD. 2(OH)E2 among 18 urinary metabolites of estrogen, showed a negative correlation with the spinal and femoral neck BMD(r =-0.2551, p<0.05, and r =-0.3341, p<0.01, respectively), and the ratio of 16a(OH)E2/2(OH)E1> revealed a positive correlation with the spinal BMD(r =0.3057, p<0.05). In stepwise multiple regression analysis, body weight, 2(OH)E2, 16a(OH)E1, 2(Meo)E1 were independent predictors of the spinal bone density, and body weight and 2(OH)E2 were independent predictors of the femoral neck bone density. Conclusion: These results suggested that restrietion fragment length polymorphism analysis of the estrogen receptor gene with PvuII restriction enzyme was not helpful for early detection of patients at risk of developing osteoporosis. However, the ratio of 16-hydroxylation to 2-hydroxylation of estrogen metabolism was reduced in postmenopausal women and high catecholestrogen formation might be a greater risk factor for osteoporosis.

Review Article

Thyroid
Genetic Polymorphism Predisposing to Differentiated Thyroid Cancer: A Review of Major Findings of the Genome-Wide Association Studies: Vladimir A. Saenko, Tatiana I. Rogounovitch; Endocrinol Metab. 2018;33(2):164-174. Published online June 21, 2018; DOI: https://doi.org/10.3803/EnM.2018.33.2.164

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Thyroid cancer has one of the highest hereditary component among human malignancies as seen in medical epidemiology investigations, suggesting the potential meaningfulness of genetic studies. Here we review researches into genetic variations that influence the chance of developing non-familial differentiated thyroid cancer (DTC), focusing on the major findings of the genome-wide association studies (GWASs) of common single-nucleotide polymorphisms (SNPs). To date, eight GWAS have been performed, and the association of a number of SNPs have been reproduced in dozens of replication investigations across different ethnicities, including Korea and Japan. Despite the cumulative effect of the strongest SNPs demonstrates gradual increase in the risk for cancer and their association signals are statistically quite significant, the overall prediction ability for DTC appears to be very limited. Thus, genotyping of common SNPs only would be insufficient for evidence-based counseling in clinical setting at present. Further studies to include less significant and rare SNPs, non-SNP genetic information, gene-gene interactions, ethnicity, non-genetic and environmental factors, and development of more advanced computational algorithms are warranted to approach to personalized disease risk prediction and prognostication.

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Original Articles

Clinical Study
Leu72Met and Other Intronic Polymorphisms in the GHRL and GHSR Genes Are Not Associated with Type 2 Diabetes Mellitus, Insulin Resistance, or Serum Ghrelin Levels in a Saudi Population: Faris Elbahi Joatar, Ali Ahmed Al Qarni, Muhalab E. Ali, Abdulaziz Al Masaud, Abdirashid M. Shire, Nagalla Das, Khalid Gumaa, Hayder A. Giha; Endocrinol Metab. 2017;32(3):360-369. Published online September 18, 2017; DOI: https://doi.org/10.3803/EnM.2017.32.3.360

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Background

Ghrelin (GHRL), a gastric peptide encoded by the GHRL gene, is known to be involved in energy homeostasis via its G protein receptor, encoded by the growth hormone secretagogue receptor (GHSR) gene. Some studies have shown associations between plasma GHRL levels and GHRL single-nucleotide polymorphisms (SNPs), namely the Leu72Met polymorphism (rs696217 TG), with type 2 diabetes mellitus (T2DM) and insulin resistance (IR), while others have not. The controversies in these associations raise the issue of ‘which SNPs in which populations.’ The aim of this study was to investigate whether SNPs in GHRL and/or GHSR genes were associated with T2DM, IR, or plasma GHRL levels among Arab Saudis.

Methods

Blood was collected from 208 Saudi subjects with (n=107) and without (n=101) T2DM. DNA samples from these subjects were analyzed by real-time polymerase chain reaction to genotype five intronic SNPs in the GHRL (rs696217 TG, rs27647 CT, rs2075356 CT, and rs4684677 AT) and GHSR (rs509030 GC) genes. In addition, plasma GHRL levels were measured by a radioimmunoassay.

Results

None of the SNPs were associated with T2DM, IR, or plasma GHRL levels. The frequencies of the alleles, genotypes, and haplotypes of the five SNPs were comparable between the T2DM patients and the non-diabetic subjects. A large number of the GHRL haplotypes indicates the molecular heterogeneity of the preproghrelin gene in this region.

Conclusion

Neither the Leu72Met polymorphism nor the other intronic GHRL and GHSR SNPs were associated with T2DM, IR, or GHRL levels. Further investigations should be carried out to explain the molecular basis of the association of the GHRL peptide with T2DM and IR.

Citations

Citations to this article as recorded by

Relationship between single nucleotide polymorphism studies in ghrelin gene with obesity subjects
May Salem Al-Nbaheen
Journal of King Saud University - Science.2023; 35(1): 102393. CrossRef
Leu72Met Polymorphism in Ghrelin Gene: A Potential Risk Factor for Hypertension in Type 2 Diabetes Patients
Monika Buraczynska, Jakub Golacki, Wojciech Zaluska
Diabetes, Metabolic Syndrome and Obesity.2023; Volume 16: 557. CrossRef
Асоціації варіантів гена GHRL із розвитком ожиріння та метаболічних порушень у дітей
A. Abaturov, A. Nikulina
CHILD`S HEALTH.2023; 18(4): 255. CrossRef
Effect of the GHRL gene (rs696217) polymorphism on the metabolic disorders in patients with obesity in the Ukrainian population
Andrii Prodan, Ihor Dzubanovsky, Oleksandr Kamyshnyi, Natalia Melnyk, Stepan Grytsenko, Stanislava Voloshyn
Endocrine Regulations.2023; 57(1): 173. CrossRef
Impact of gene polymorphism of glutathione S-transferase and ghrelin as a risk factor in Egyptian women with gestational diabetes mellitus
Mai M. Madkour, Afaf M. El-Said, Abd El-Aziz A. El-Refaey, Abd El-Aziz F. Abd El-Aziz, Fardous F. El-Senduny
Egyptian Journal of Medical Human Genetics.2022;[Epub] CrossRef
Association of obesity in T2DM with differential polymorphism of ghrelin, growth hormone secretagogue receptor-1 and telomeres maintenance genes
Hayder A. Giha, Faris E. Joatar, Dhuha M. B. AlDehaini, Zainab H. A. Malalla, Muhalab E. Ali, Ali A. Al Qarni
Hormone Molecular Biology and Clinical Investigation.2022; 43(3): 297. CrossRef
Investigation of GHRL (rs4684677), FTO (rs8044769) and PGC1Α (rs8192678) polymorphisms in type 2 diabetic Turkish population
Osman Oğuz, Arezoo Gheybi, Zeliha Doğan, Feray Akbaş, Ümit Zeybek, Arzu Ergen
Turkish Journal of Biochemistry.2022; 47(5): 564. CrossRef
Grelin ve Grelin Reseptörü Polimorfizmlerinin Tip 2 Diyabetle İlişkisi
Esma SELÇUK, Uğur ŞAHİN, Didem ÖZKAHRAMAN, Mustafa CALAPOĞLU, Nilüfer ŞAHİN CALAPOĞLU
Süleyman Demirel Üniversitesi Sağlık Bilimleri Dergisi.2022; 13(2): 218. CrossRef
Variation analysis of Ghrelin gene in Chinese patients with obesity, having polycystic ovarian syndrome
Xiaomeng Wang, Fengxiang Qu, Chunlian Wang, Yan Wang, Dan Wang, Min Zhao, Xiangbing Yun, Qingmei Zheng, Lin Xu
Gynecological Endocrinology.2020; 36(7): 594. CrossRef
The flavonoid baicalin improves glucose metabolism by targeting the PH domain of AKT and activating AKT/GSK3β phosphorylation
Shengnan Yang, Yuan Zhang, Fukui Shen, Xiaoyao Ma, Man Zhang, Yuanyuan Hou, Gang Bai
FEBS Letters.2019; 593(2): 175. CrossRef
Ethnicity-Specific Association Between Ghrelin Leu72Met Polymorphism and Type 2 Diabetes Mellitus Susceptibility: An Updated Meta-Analysis
Rong Huang, Sai Tian, Rongrong Cai, Jie Sun, Yanjue Shen, Shaohua Wang
Frontiers in Genetics.2018;[Epub] CrossRef

Clinical Study
Thyrotoxic Periodic Paralysis and Polymorphisms of the ADRB2, AR, and GABRA3 Genes in Men with Graves Disease: Suyeon Park, Tae Yong Kim, Soyoung Sim, Seonhee Lim, Mijin Kim, Hyemi Kwon, Min Ji Jeon, Won Gu Kim, Young Kee Shong, Won Bae Kim; Endocrinol Metab. 2016;31(1):142-146. Published online March 16, 2016; DOI: https://doi.org/10.3803/EnM.2016.31.1.142

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Background

Thyrotoxic periodic paralysis (TPP) is a rare complication of thyrotoxicosis characterized by acute attacks of muscle weakness and hypokalemia. Recently, variation in several genes was suggested to be associated with TPP. This study evaluated the genetic predisposition to TPP in terms of the β2-adrenergic receptor (ADRB2), androgen receptor (AR), and γ-aminobutyric acid receptor α3 subunit (GABRA3) genes.

Methods

This study enrolled 48 men with Graves disease (GD) and TPP, and 48 GD patients without TPP. We compared the frequencies of candidate polymorphisms between the two groups.

Results

The frequency of the Gly16/Gly16 genotype in ADRB2 was not significantly associated with TPP (P=0.32). More CAG repeats (≥26) in the AR gene were not correlated with TPP (odds ratio [OR], 2.46; 95% confidence interval [CI], 0.81 to 8.09; P=0.08). The allele frequency of the TT genotype in the GABRA3 gene was not associated with TPP (OR, 1.83; 95% CI, 0.54 to 6.74; P=0.41).

Conclusion

The polymorphisms in the ADRB2, AR, and GABRA3 genes could not explain the genetic susceptibility to TPP in Korean men with GD.

Citations

Citations to this article as recorded by

RNASET2,GPR174, and PTPN22 gene polymorphisms are related to the risk of liver damage associated with the hyperthyroidism in patients with Graves’ disease
Qing Zhang, Shaozheng Liu, Yanxing Guan, Qingjie Chen, Qing Zhang, Xiang Min
Journal of Clinical Laboratory Analysis.2018;[Epub] CrossRef
Articles inEndocrinology and Metabolismin 2016
Won-Young Lee
Endocrinology and Metabolism.2017; 32(1): 62. CrossRef
Periodic Paralysis and Encephalopathy as Initial Manifestations of Graves’ Disease
Theocharis Tsironis, Athanasios Tychalas, Dimitrios Kiourtidis, Jannis Kountouras, Georgia Xiromerisiou, Jobst Rudolf, Georgia Deretzi
The Neurologist.2017; 22(4): 134. CrossRef
Thyrotoxic periodic paralysis
Zdeněk Doležel, Dana Novotná, Helena Schneiderová, Jan Papež, Martin Jouza
Pediatrie pro praxi.2016; 17(6): 379. CrossRef

Clinical Study
Association between Bsm1 Polymorphism in Vitamin D Receptor Gene and Diabetic Retinopathy of Type 2 Diabetes in Korean Population: Yong Joo Hong, Eun Seok Kang, Myoung Jin Ji, Hyung Jin Choi, Taekeun Oh, Sung-Soo Koong, Hyun Jeong Jeon; Endocrinol Metab. 2015;30(4):469-474. Published online December 31, 2015; DOI: https://doi.org/10.3803/EnM.2015.30.4.469

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Background

Type 2 diabetes is one of the most common diseases with devastating complications. However, genetic susceptibility of diabetic complications has not been clarified. The vitamin D endocrine system is related with calcification and lipolysis, insulin secretion, and may be associated with many complicated disease including diabetes and cardiovascular disease. Recent studies reported that single nucleotide polymorphisms of vitamin D receptor (VDR) gene were associated with diabetic complications.

Methods

In present study, we evaluated the association of BsmI polymorphism of VDR with diabetic complications in Korean diabetes patients. Total of 537 type 2 diabetic subjects from the Endocrinology Clinic of Chungbuk National University Hospital were investigated. Polymerase chain reaction-restriction fragment length polymorphism was used to test the genotype and allele frequency of BsmI (rs1544410; BB, Bb, bb) polymorphisms.

Results

Mean age was 62.44±10.64 years and mean disease duration was 13.65±7.39 years. Patients with B allele (BB or Bb) was significantly associated with lower risk of diabetic retinopathy (severe non-proliferative diabetic retinopathy or proliferative retinopathy; 7.4%, 5/68) compared with patients without B allele (bb; 17.3%, 81/469; P=0.035). This association was also significant after adjusting for hemoglobin A1c level, body mass index, age, sex, and diabetes mellitus duration, concurrent dyslipidemia and hypertension (odds ratio, 2.99; 95% confidence interval, 1.08 to 8.29; P=0.035) in logistic regression analysis.

Conclusion

Our findings suggest that B allele of Bsm1 polymorphism in VDR gene is associated with lower risk of diabetic retinopathy in type 2 diabetic patients. Bsm1 genotype could be used as a susceptibility marker to predict the risk of diabetes complication.

Citations

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The Vitamin D Receptor Bsm1 Variant is not Associated With Temporomandibular Disorder With or Without Bruxism
Serkan YILDIZ, Serbülent YİĞİT, Ayşe Feyda NURSAL, Nevin KARAKUŞ, Mehmet Kemal TÜMER
ADO Klinik Bilimler Dergisi.2024; 13(1): 100. CrossRef
Association analysis between the VDR gene variants and type 2 diabetes
Shabnam Salehizadeh, Sara Ramezani, Mojgan Asadi, Mahdi Afshari, Seyed Hamid Jamaldini, Farhad Adhami Moghadam, Mandana Hasanzad
Journal of Diabetes & Metabolic Disorders.2023;[Epub] CrossRef
Metabolic impact of the VDR rs1544410 in diabetic retinopathy
Caroline Severo de Assis, Tainá Gomes Diniz, João Otávio Scarano Alcântara, Vanessa Polyana Alves de Sousa Brito, Rayner Anderson Ferreira do Nascimento, Mayara Karla dos Santos Nunes, Alexandre Sérgio Silva, Isabella Wanderley de Queiroga Evangelista, Ma
PLOS ONE.2022; 17(2): e0263346. CrossRef
Vitamin D, the Vitamin D Receptor, Calcitriol Analogues and Their Link with Ocular Diseases
Miłosz Caban, Urszula Lewandowska
Nutrients.2022; 14(11): 2353. CrossRef
Vitamin D-Related Single Nucleotide Polymorphisms as Risk Biomarker of Cardiovascular Disease
Paula González Rojo, Cristina Pérez Ramírez, José María Gálvez Navas, Laura Elena Pineda Lancheros, Susana Rojo Tolosa, María del Carmen Ramírez Tortosa, Alberto Jiménez Morales
International Journal of Molecular Sciences.2022; 23(15): 8686. CrossRef
Effects of Vitamin D Receptor Genotype on Lipid Profiles and Retinopathy Risk in Type 2 Diabetes Patients: A Pilot Study
Hussam Alhawari, Yazun Jarrar, Dina Abulebdah, Sara J. Abaalkhail, Marah Alkhalili, Sura Alkhalili, Hussein Alhawari, Munther Momani, Mohammed N. Obeidat, Rand K. Fram, Mohammad A. Salahat, Su-Jun Lee
Journal of Personalized Medicine.2022; 12(9): 1488. CrossRef
Relation of vitamin D and BsmI variant with temporomandibular diseases in the Turkish population
S. Yildiz, M.K. Tumer, S. Yigit, A.F. Nursal, A. Rustemoglu, Y. Balel
British Journal of Oral and Maxillofacial Surgery.2021; 59(5): 555. CrossRef
The relationship between vitamin D receptor (VDR) rs2228570 and rs7975232 genetic variants and the risk of recurrent pregnancy loss
Zohreh Salari, Nasrollah Saleh-Gohari, Monire Rezapour, Ahamad Khosravi, Hadi Tavakkoli, Ehsan Salarkia, Fatemeh Karami-Robati
Meta Gene.2021; 27: 100833. CrossRef
Association of Bone Metabolism Indices and Bone Mineral Density with Diabetic Retinopathy in Elderly Patients with Type 2 Diabetes Mellitus: A Cross-Sectional Inpatient Study in China
Xin Zhao, Lili Huo, Xiaofeng Yu, Xiaomei Zhang, Fabio Vescini
Journal of Diabetes Research.2021; 2021: 1. CrossRef
The Associations Between Vitamin D Receptor BsmI and ApaI Polymorphisms and Obesity in Korean Patients with Type 2 Diabetes Mellitus
Sang Won Nam, Jinwoo Choi, Hyun Jeong Jeon, Tae Keun Oh, Dong-Hwa Lee
Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy.2021; Volume 14: 557. CrossRef
Vitamin D Deficiency at Mid-Pregnancy Is Associated with a Higher Risk of Postpartum Glucose Intolerance in Women with Gestational Diabetes Mellitus
Kyung-Soo Kim, Seok Won Park, Yong-Wook Cho, Soo-Kyung Kim
Endocrinology and Metabolism.2020; 35(1): 97. CrossRef
The role of vitamin D in the pathogenesis and treatment of diabetes mellitus: a narrative review
Maria Grammatiki, Spiros Karras, Kalliopi Kotsa
Hormones.2019; 18(1): 37. CrossRef
Vitamin D-binding protein and vitamin D receptor genotypes and 25-hydroxyvitamin D levels are associated with development of aortic and mitral valve calcification and coronary artery diseases
Amir Kiani, Ehsan Mohamadi-Nori, Asad Vaisi-Raygani, Maryam Tanhapour, Said Elahi-Rad, Fariborz Bahrehmand, Zohreh Rahimi, Tayebeh Pourmotabbed
Molecular Biology Reports.2019; 46(5): 5225. CrossRef
Is Hypovitaminosis D Related to Incidence of Type 2 Diabetes and High Fasting Glucose Level in Healthy Subjects: A Systematic Review and Meta-Analysis of Observational Studies
Shamaila Rafiq, Per Jeppesen
Nutrients.2018; 10(1): 59. CrossRef
Association between the vitamin D receptor gene polymorphisms and diabetic nephropathy risk: A meta‐analysis
Fang Yin, Jing Liu, Ming‐Xiu Fan, Xiao‐Li Zhou, Xiao‐Ling Zhang
Nephrology.2018; 23(2): 107. CrossRef
BSMI single nucleotide polymorphism in vitamin D receptor gene is associated with decreased circulatory levels of serum 25-hydroxyvitamin D among micro and macrovascular complications of type 2 diabetes mellitus
Krishnamoorthy Ezhilarasi, Umapathy Dhamodharan, Viswanathan Vijay
International Journal of Biological Macromolecules.2018; 116: 346. CrossRef
Diabetic macular oedema: under‐represented in the genetic analysis of diabetic retinopathy
Suzanne Broadgate, Christine Kiire, Stephanie Halford, Victor Chong
Acta Ophthalmologica.2018; 96(A111): 1. CrossRef
Expression of JAZF1, ABCC8, KCNJ11and Notch2 genes and vitamin D receptor polymorphisms in type 2 diabetes, and their association with microvascular complications
Maha A. Rasheed, Nagwa Kantoush, Nagwa Abd El-Ghaffar, Hebatallah Farouk, Solaf Kamel, Alshaymaa Ahmed Ibrahim, Aliaa Shalaby, Eman Mahmoud, Hala M. Raslan, Omneya M. Saleh
Therapeutic Advances in Endocrinology and Metabolism.2017; 8(6): 97. CrossRef
Vitamin D and diabetes mellitus: Causal or casual association?
M. Grammatiki, E. Rapti, S. Karras, R. A. Ajjan, Kalliopi Kotsa
Reviews in Endocrine and Metabolic Disorders.2017; 18(2): 227. CrossRef
The Association between Vitamin D Deficiency and Diabetic Retinopathy in Type 2 Diabetes: A Meta-Analysis of Observational Studies
Bang-An Luo, Fan Gao, Lu-Lu Qin
Nutrients.2017; 9(3): 307. CrossRef
The Association between VDR Gene Polymorphisms and Diabetic Retinopathy Susceptibility: A Systematic Review and Meta-Analysis
Yun Zhang, Wei Xia, Ping Lu, Huijuan Yuan
BioMed Research International.2016; 2016: 1. CrossRef
Candidate gene studies of diabetic retinopathy in human
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Adrenal gland
Association between the Growth Hormone Receptor Exon 3 Polymorphism and Metabolic Factors in Korean Patients with Acromegaly: Hye Yoon Park, In Ryang Hwang, Jung Bum Seo, Su Won Kim, Hyun Ae Seo, In Kyu Lee, Jung Guk Kim; Endocrinol Metab. 2015;30(3):312-317. Published online January 5, 2015; DOI: https://doi.org/10.3803/EnM.2015.30.3.312

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Background

This study investigated the association between the frequency of growth hormone receptor (GHR) exon 3 polymorphism (exon 3 deletion; d3-GHR) and metabolic factors in patients with acromegaly in Korea.

Methods

DNA was extracted from the peripheral blood of 30 unrelated patients with acromegaly. GHR genotypes were evaluated by polymerase chain reaction and correlated with demographic data and laboratory parameters.

Results

No patient had the d3/d3 genotype, while four (13.3%) had the d3/fl genotype, and 26 (86.7%) had the fl/fl genotype. Body mass index (BMI) in patients with the d3/fl genotype was significantly higher than in those with the fl/fl genotype (P=0.001). Age, gender, blood pressure, insulin-like growth factor-1, growth hormone, fasting plasma glucose, triglycerides, high density lipoprotein cholesterol, and low density lipoprotein cholesterol levels showed no significant differences between the two genotypes.

Conclusion

The d3-GHR polymorphism may be associated with high BMI but not with other demographic characteristics or laboratory parameters.

Citations

Citations to this article as recorded by

The Exon 3-Deleted Growth Hormone Receptor (d3GHR) Polymorphism—A Favorable Backdoor Mechanism for the GHR Function
Ghadeer Falah, Lital Sharvit, Gil Atzmon
International Journal of Molecular Sciences.2023; 24(18): 13908. CrossRef
Gender Specificity and Local Socioeconomic Influence on Association of GHR fl/d3 Polymorphism With Growth and Metabolism in Children and Adolescents
Xiaotian Chen, Chunlan Liu, Song Yang, Yaming Yang, Yanchun Chen, Xianghai Zhao, Weiguang Zhu, Qihui Zhao, Chuan Ni, Xiangyuan Huang, Weili Yan, Chong Shen, Harvest F. Gu
Frontiers in Pediatrics.2022;[Epub] CrossRef
Exon 3-deleted growth hormone receptor isoform is not related to worse bone mineral density or microarchitecture or to increased fracture risk in acromegaly
J. Pontes, M. Madeira, C. H. A. Lima, L. L. Ogino, F. de Paula Paranhos Neto, L. M. C. de Mendonça, M. L. F. Farias, L. Kasuki, M. R. Gadelha
Journal of Endocrinological Investigation.2020; 43(2): 163. CrossRef
MECHANISMS IN ENDOCRINOLOGY: Lessons from growth hormone receptor gene-disrupted mice: are there benefits of endocrine defects?
Reetobrata Basu, Yanrong Qian, John J Kopchick
European Journal of Endocrinology.2018; 178(5): R155. CrossRef
MECHANISMS IN ENDOCRINOLOGY: Clinical and pharmacogenetic aspects of the growth hormone receptor polymorphism
Cesar L Boguszewski, Edna J L Barbosa, Per-Arne Svensson, Gudmundur Johannsson, Camilla A M Glad
European Journal of Endocrinology.2017; 177(6): R309. CrossRef

APOA5 Polymorphism Is Associated with Metabolic Syndrome in Korean Postmenopausal Women.: Doh Hee Kim, Seung Hee Lee, Kyung Hoon Han, Chae Bong Kim, Kwan Young Song, Sook Cho, Kye Heui Lee; Endocrinol Metab. 2012;27(4):276-281. Published online December 20, 2012; DOI: https://doi.org/10.3803/EnM.2012.27.4.276

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Abstract PDF

BACKGROUND
Menopause is an independent risk factor in metabolic syndrome which induced an alteration of the lipid metabolism by hormonal changes. Apolipoprotein A5 gene (APOA5) was related to the regulation of triglyceride and high density lipoprotein cholesterol (HDL-C) level with biosynthesis and decomposition. This study was conducted to investigate the relationship between APOA5 polymorphism and metabolic syndrome in Korean postmenopausal women. METHODS: This study included 307 postmenopausal women with anthropometric and biochemical measurement in 2010-2011. The polymorphism of APOA5 was analyzed by polymerase chain reaction-restriction fragment length polymorphism method with MseI restriction enzyme. RESULTS: The metabolic syndrome prevalence with TT genotype was significantly lower than the frequency in those with TC/CC (27.09%, 38.46%, and 45.71% for TT, TC, and CC, respectively; P < 0.05). Multiple regression analysis of metabolic syndrome risk factors indicated that postmenopausal women with CC genotype had a higher risk with 3 times than that in TT genotype (P < 0.05). APOA5 C carriers showed an increased risk of triglyceride level (odd ratio, 2.93 and 1.85 for CC and TC+CC, respectively; P < 0.05). Interestingly, HDL-C was related to triglyceride directly in comparison to APOA5. CONCLUSION: The results of this study indicate that APOA5 has an influence on serum triglyceride and HDL-C, which contribute to metabolic syndrome in Korean postmenopausal women.

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Effects of a 3-year dietary intervention on age-related changes in triglyceride and apolipoprotein A-V levels in patients with impaired fasting glucose or new-onset type 2 diabetes as a function of the APOA5 -1131 T > C polymorphism
Minjoo Kim, Jey Sook Chae, Miri Kim, Sang-Hyun Lee, Jong Ho Lee
Nutrition Journal.2014;[Epub] CrossRef
APOA5Polymorphism Is Associated with Metabolic Syndrome in Korean Postmenopausal Women
Mi Hae Seo, Won Young Lee
Endocrinology and Metabolism.2012; 27(4): 274. CrossRef

Case Report

A Case of Sporadic Medullary Thyroid Cancer with RET G691S Polymorphism.: Min Kyu Kang, Jung Min Lee, Ji Hyun Kim, Min Young Lee, Ji Hyun Kim, Sung Dae Moon, Je Ho Han, Sang Ah Chang; J Korean Endocr Soc. 2009;24(4):293-297. Published online December 1, 2009; DOI: https://doi.org/10.3803/jkes.2009.24.4.293

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Abstract PDF: Sporadic medullary thyroid carcinoma (MTC) is the most common form of MTC and somatic RET proto-oncogene mutations account for approximately 25% of the patients with sporadic MTC. However, other pathogeneses of sporadic MTC are still unclear. Not only RET mutation, but also polymorphisms of RET may have an association with sporadic MTC. We herein describe the association of MTC and RET proto-oncogene polymorphism. A 51-year-old man was diagnosed with MTC, which was incidentally found on a thyroid sonogram. The patient underwent total thyroidectomy and genetic mutational analysis of the RET gene. Genetic testing detected a polymorphism in codon 691 (G691S) on exon 11 of the RET proto-oncogene. His son and daughter had the same polymorphism. We report on this case along with a review of the related literature on RET gene polymorphism of sporadic MTC.

Original Articles

Gly1057Asp Polymorphism of the Insulin Receptor Substrate-2 Genes May Not Have a Significant Impact on Insulin Resistance in Korean Women with Polycystic Ovary Syndrome.: Ji Young Oh, Jee Young Oh, Yeon Ah Sung, Hye Jin Lee, Hye Won Chung; J Korean Endocr Soc. 2009;24(2):100-108. Published online June 1, 2009; DOI: https://doi.org/10.3803/jkes.2009.24.2.100

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Abstract PDF

BACKGROUND
Insulin resistance is a key factor in the pathogenesis of polycystic ovary syndrome (PCOS), and several candidate genes involved in insulin action such as insulin receptor or insulin recpetor substrate (IRS) have been investigated. In this study, we examined the genetic effects of the IRS-1 and IRS-2 genes on the metabolic and reproductive features in women with PCOS. METHODS: 125 patients with PCOS and 344 regular cycling controls were enrolled. Analysis of the polymorphisms of Gly972Arg in the IRS-1 gene and Gly1057Asp in the IRS-2 gene was performed and oral glucose tolerance tests and hyperinsulinemic euglycemic clamp tests were done. RESULTS: The genotype frequencies of the Gly972Arg polymorphism in the IRS-1 gene and the Gly1057Asp polymorphism in the IRS-2 gene were not significantly different between the women with PCOS and the controls. Gly972Arg polymorphism of the IRS-1 gene was extremely rare in both groups. PCOS women with the IRS-2 Asp1057Asp genotype showed significantly higher hirsutism scores, higher levels of free testosterone and higher post-load 60, 90, and 120 min plasma glucose levels compared to those women with the Gly1057Gly or Gly1057Asp genotype. In contrast, the control women with the Asp1057Asp genotype showed significantly lower post-load 60, 90, and 120 min plasma glucose levels compared with those women with the Gly1057Gly or Gly1057Asp genotype. CONCLUSION: Gly972Arg polymorphism of the IRS-1 gene was extremely rare in Korean women. Gly1057Asp polymorphism of the IRS-2 gene was associated with the phenotypic features of PCOS such as hirsutism, hyperandrogenemia and hyperglycemia, but it was not associated with the insulin sensitivity index. In conclusion, Gly1057Asp polymorphism of the IRS-2 gene may not have a significant impact on insulin resistance in Korean women with PCOS.

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Insulin Receptor Substrate 1 Gly972Arg (rs1801278) Polymorphism Is Associated with Obesity and Insulin Resistance in Kashmiri Women with Polycystic Ovary Syndrome
Shayaq Ul Abeer Rasool, Mudasar Nabi, Sairish Ashraf, Shajrul Amin
Genes.2022; 13(8): 1463. CrossRef

CAG Repeats in the Androgen Receptor Polymorphism do not Correlate with Thyrotoxic Periodic Paralysis.: Won Gu Kim, Tae Yong Kim, Jung Min Kim, Yoon Soo Rhee, Hyun Jeung Choi, Won Bae Kim, Young Kee Shong; J Korean Endocr Soc. 2008;23(2):117-122. Published online April 1, 2008; DOI: https://doi.org/10.3803/jkes.2008.23.2.117

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Abstract PDF

BACKGROUND
Thyrotoxic periodic paralysis (TPP) occurs mostly in males, but no studies have addressed the role of androgen in the disease. Hyperinsulinemia can precipitate acute paralysis in TPP patients. CAG repeats in the androgen receptor (AR), an X-linked gene, correlate with serum insulin levels. AIM: To evaluate whether CAG repeats in the AR gene might predict the susceptibility to TPP in Korean male Graves' patients. METHODS: We evaluated CAG repeat length in a series of 33 male TPP patients and 48 control patients by direct sequencing of the PCR product of the AR promoter site. Control patients were male Graves' patients without a history of paralysis. RESULTS: The CAG repeat length varied from 15 to 34 (median of 23). The upper quartile of CAG length was equal to or above 26 repeats (long AR). The distribution of long AR was 0.30 in TPP and 0.15 in control patients, respectively (odds ratio, 2.51; 95% confidence interval, 0.92~6.85; P = 0.09). CONCLUSION: AR gene polymorphisms may not confer genetic susceptibility to TPP in Korean male patients with Graves' disease.

Citations

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Contributions of CAG repeat length in the androgen receptor gene and androgen profiles to premature pubarche in Korean girls
Min Jae Kang, Jeong Seon Lee, Hwa Young Kim, Hae Woon Jung, Young Ah Lee, Sun Hee Lee, Ji-Young Seo, Jae Hyun Kim, Hye Rim Chung, Se Young Kim, Choong Ho Shin, Sei Won Yang
Endocrine Journal.2017; 64(1): 91. CrossRef
Thyrotoxic Periodic Paralysis and Polymorphisms of the ADRB2, AR, and GABRA3 Genes in Men with Graves Disease
Suyeon Park, Tae Yong Kim, Soyoung Sim, Seonhee Lim, Mijin Kim, Hyemi Kwon, Min Ji Jeon, Won Gu Kim, Young Kee Shong, Won Bae Kim
Endocrinology and Metabolism.2016; 31(1): 142. CrossRef
Androgen Receptor Gene CAG Repeat Polymorphism and Effect of Testosterone Therapy in Hypogonadal Men in Korea
Min Joo Kim, Jin Taek Kim, Sun Wook Cho, Sang Wan Kim, Chan Soo Shin, Kyong Soo Park, Seong Yeon Kim
Endocrinology and Metabolism.2011; 26(3): 225. CrossRef

Case Report

A Family of Multiple Endocrine Neoplasia Type 2A with a C634R Mutation and a G691S Polymorphism in RET Proto-oncogene.: Seoung Wook Yun, Won Sang Yoo, Koo Hyun Hong, Bae Hwan Kim, Min Ho Kang, Young Kwang Choo, Hee Yoon Park, Do Hee Kim, Hyun Kyung Chung, Myung Chul Chang, Mi Seon Kwon, Hee Jin Kim; J Korean Endocr Soc. 2007;22(6):453-459. Published online December 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.6.453

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Abstract PDF

Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant syndrome characterized by the presence of a medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. MEN2A arises due to germline missense mutations of the RET proto-oncogene. Specific RET mutations correlate with the onset of age and the aggressiveness of a medullary thyroid carcinoma. However, the clinical presentation varies even within families, where patients carry the same mutation. Recently, it has been reported that polymorphisms of RET may have a modifier effect on the presentation. We experienced a case of 42-year-old man, whose bilateral pheochromocytoma and medullary thyroid carcinoma were incidentally found. Genetic testing detected a mutation in codon 634 (C634R) and a polymorphism in codon 691 (G691S) of the RET proto-oncogene. His mother, younger brother and his only son had the same mutation and polymorphism. We report this case with a review of the literature about RET gene polymorphisms.

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A Family Presenting with Catastrophic Features due to Pheochromocytoma Associated with Multiple Endocrine Neoplasia 2A
Yun Jung Lee, Suk Chon, Sang-Ho Lee, Tae-Won Lee, Chun-Gyoo Ihm, Tae June Noh, Seungjoon Oh, Jeong-Taek Woo, Sung-Woon Kim, Jin-Woo Kim, Young Seol Kim
Endocrinology and Metabolism.2010; 25(2): 135. CrossRef
A Case of Sporadic Medullary Thyroid Cancer with RET G691S Polymorphism
Min-Kyu Kang, Jung-Min Lee, Ji-Hyun Kim, Min-Young Lee, Ji Hyun Kim, Sung Dae Moon, Je-Ho Han, Sang-Ah Chang
Journal of Korean Endocrine Society.2009; 24(4): 293. CrossRef

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