Endocrinology and Metabolism

Original Articles

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.

Citations

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Vitamin D-associated genetic variants in the Brazilian population: Investigating potential instruments for Mendelian randomization
Caroline De Souza Silverio , Carolina Bonilla
Biomédica.2024; 44(1): 45. CrossRef
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Diana I. Aparicio-Bautista, Rogelio F. Jiménez-Ortega, Adriana Becerra-Cervera, Arnoldo Aquino-Gálvez, Valeria Ponce de León-Suárez, Leonora Casas-Ávila, Jorge Salmerón, Alberto Hidalgo-Bravo, Berenice Rivera-Paredez, Rafael Velázquez-Cruz
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Critical Reviews in Food Science and Nutrition.2023; : 1. CrossRef
Association between Vitamin D Deficiency and Clinical Parameters in Men and Women Aged 50 Years or Older: A Cross-Sectional Cohort Study
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The Multiple Effects of Vitamin D against Chronic Diseases: From Reduction of Lipid Peroxidation to Updated Evidence from Clinical Studies
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Antioxidants.2022; 11(6): 1090. CrossRef
A Genome-Wide Association Study of Genetic Variants of Apolipoprotein A1 Levels and Their Association with Vitamin D in Korean Cohorts
Young Lee, Ji Won Yoon, Ye An Kim, Hyuk Jin Choi, Byung Woo Yoon, Je Hyun Seo
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On the Centennial of Vitamin D—Vitamin D, Inflammation, and Autoimmune Thyroiditis: A Web of Links and Implications
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Clinical Study
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; Endocrinol Metab. 2020;35(1):97-105. Published online March 19, 2020; DOI: https://doi.org/10.3803/EnM.2020.35.1.97

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Background

To evaluate the association between serum 25-hydroxyvitamin D (25(OH)D) at mid-pregnancy and postpartum glucose intolerance in women with gestational diabetes mellitus (GDM).

Methods

We enrolled 348 pregnant women diagnosed with GDM from August 2012 to October 2016. We measured serum 25(OH)D levels at mid-pregnancy and carried out a 75-g oral glucose tolerance test at 6 to 12 weeks after delivery. Vitamin D deficiency was defined as serum 25(OH)D <20 ng/mL.

Results

The prevalence of vitamin D deficiency was 76.7% (n=267). Women with vitamin D deficiency had a higher prevalence of postpartum glucose intolerance than did those without vitamin D deficiency (48.7% vs. 32.1%, P=0.011). Serum 25(OH)D level was negatively correlated with hemoglobin A1c at antepartum and postpartum period (antepartum: r=−0.186, P=0.001; postpartum: r=−0.129, P=0.047). Homeostasis model assessment of β-cell function was positively correlated with serum 25(OH)D level only postpartum (r=0.138, P=0.035). The risk of postpartum glucose intolerance was 2.00 times (95% confidence interval, 1.13 to 3.55) higher in women with vitamin D deficiency than in those without vitamin D deficiency (P=0.018).

Conclusion

In women with GDM, vitamin D deficiency at mid-pregnancy is associated with an elevated risk of postpartum glucose intolerance.

Citations

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Chunfeng Wu, Yang Song, Xueying Wang, Pier P. Sainaghi
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Influence of hypovitaminosis D during pregnancy on glycemic and lipid profile, inflammatory indicators and anthropometry of pregnant and newborn
Sara de Figueiredo dos Santos, Paula Normando dos Reis Costa, Thaise Gasser Gouvêa, Nathalia Ferreira Antunes de Almeida, Felipe de Souza Cardoso
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Yu Zhu, Ling Li, Ping Li
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The Clinical Characteristics of Gestational Diabetes Mellitus in Korea: A National Health Information Database Study
Kyung-Soo Kim, Sangmo Hong, Kyungdo Han, Cheol-Young Park
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Miscellaneous
Influence of Vitamin D Deficiency on Progression of Experimental Otitis Media in Rats: Hee-Bok Kim, So Hyun Lim, Chang Gun Cho, Han Seok Choi; Endocrinol Metab. 2018;33(2):296-304. Published online June 21, 2018; DOI: https://doi.org/10.3803/EnM.2018.33.2.296

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Background

Vitamin D plays an important role in the immune response against infection. The purpose of the present study was to investigate the influence of vitamin D deficiency on the progression of otitis media (OM) using an experimental rat model.

Methods

Four-week-old male Sprague-Dawley rats (n=72) were divided into two groups based on their diet: a control diet group (n=36) and a vitamin D-deficient diet group (n=36). After 8 weeks of diet, experimental OM was induced by inoculation of non-typeable Haemophilus influenzae in the middle ear cavity. The rats were evaluated with otomicroscopy to determine the inflammation in the middle ear mucosa on days 1, 2, 4, 7, and 14 post-inoculation. Bullae from sacrificed rats were collected and analyzed histologically.

Results

The middle ear mucosa from rats with vitamin D deficiency showed a significantly higher thickness than that of controls during the course of OM. The maximum mucosal thickness was 56.0±9.1 µm in the vitamin D deficiency group, and 43.9±9.8 µm in the control group, although there was no significant difference in the tympanic membrane score between the two groups evaluated with otomicroscopy. An immunohistochemical study showed increased expression of interleukin 6 (IL-6) and tumor necrosis factor α in rats manifesting vitamin D deficiency and decreased expression of IL-10 compared with controls.

Conclusion

Our results showed that vitamin D deficiency may exacerbate the pathophysiological changes of OM via altered cytokine production. Therefore, maintaining vitamin D status in the optimal range may be beneficial for proper management of OM.

Citations

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The role of vitamin D in subjective tinnitus—A case-control study
Magdalena Nowaczewska, Stanisław Osiński, Maria Marzec, Michał Wiciński, Katarzyna Bilicka, Wojciech Kaźmierczak, Rafael da Costa Monsanto
PLOS ONE.2021; 16(8): e0255482. CrossRef
Vitamin D and Otitis Media
Rebecca E. Walker, Jim Bartley, Carlos A. Camargo, Edwin A. Mitchell
Current Allergy and Asthma Reports.2019;[Epub] CrossRef

Review Article

Vitamin D: A D-Lightful Vitamin for Health.: Michael F Holick; Endocrinol Metab. 2012;27(4):255-267. Published online December 20, 2012; DOI: https://doi.org/10.3803/EnM.2012.27.4.255

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Abstract PDF

Vitamin D is a sunshine vitamin that has been produced on this earth for more than 500 million years. Because foods contain so little vitamin D most humans have always depended on sun exposure for their vitamin D requirement. Vitamin D deficiency has been defined as a serum 25-hydroxyvitamin D concentration < 20 ng/mL (50 nmol/L); vitamin D insufficiency as a serum 25-hydroxyvitamin D of 21-29 ng/mL and vitamin D sufficiency as a serum 25-hydroxyvitamin D of 30-100 ng/mL whereas toxicity is usually not seen until blood levels are above 150 ng/mL. Vitamin D deficiency is a global health problem that increases risk for metabolic bone diseases in children and adults as well as many chronic illnesses including autoimmune diseases, type 2 diabetes, cardiovascular disease, infectious disease, and cancer. The major causes of vitamin D deficiency are lack of adequate sensible exposure to sunlight, inadequate dietary intake and obesity. The United States Endocrine Society recommended that to prevent vitamin D deficiency in those at risk, children 1 year and older require 600-1,000 international unit (IU) of vitamin D daily and adults require 1,500-2,000 IU of vitamin D daily. Obese patients require 2-3 times more vitamin D to both treat and prevent vitamin D deficiency.

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Higher intakes of dietary caffeine are associated with 25-hydroxyvitamin D deficiency
Qiwei Chen, Hamed Kord-Varkaneh, Heitor O. Santos, Rafael Genario, Minyan Dang
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WITHDRAWN: Higher intakes of dietary caffeine are associated with 25-hydroxyvitamin D deficiency: a study from the NHANES
Fang Yang, Ning Wang
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Association of metabolic syndrome and 25‐hydroxyvitamin D with cognitive impairment among elderly Koreans
Eun Young Lee, Su Jin Lee, Kyoung Min Kim, Young Mi Yun, Bo Mi Song, Jong Eun Kim, Hyeon Chang Kim, Yumie Rhee, Yoosik Youm, Chang Oh Kim
Geriatrics & Gerontology International.2017; 17(7): 1069. CrossRef
Korean Society for Bone and Mineral Research Task Force Report: Perspectives on Intermittent High-dose Vitamin D Supplementation
Han Seok Choi, Yong-Ki Min, Dong Won Byun, Myung Hoon Hahn, Kyoung Min Kim, Beom Jun Kim, Ki-Won Oh
Journal of Bone Metabolism.2017; 24(3): 141. CrossRef
Efficacy and safety of vitamin D3 B.O.N intramuscular injection in Korean adults with vitamin D deficiency
Han Seok Choi, Yoon-Sok Chung, Yong Jun Choi, Da Hea Seo, Sung-Kil Lim
Osteoporosis and Sarcopenia.2016; 2(4): 228. CrossRef
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Jae Hoon Moon
Endocrinology and Metabolism.2016; 31(2): 185. CrossRef
The effect of thyroid stimulating hormone suppressive therapy on bone geometry in the hip area of patients with differentiated thyroid carcinoma
Jae Hoon Moon, Kyong Yeun Jung, Kyoung Min Kim, Sung Hee Choi, Soo Lim, Young Joo Park, Do Joon Park, Hak Chul Jang
Bone.2016; 83: 104. CrossRef
Serum 25‐hydroxyvitamin D level and the risk of mild cognitive impairment and dementia: the Korean Longitudinal Study on Health and Aging (KLoSHA)
J.H. Moon, S. Lim, J.W. Han, K.M. Kim, S.H. Choi, K.W. Kim, H.C. Jang
Clinical Endocrinology.2015; 83(1): 36. CrossRef
Vitamin D Status in Korea
Han Seok Choi
Endocrinology and Metabolism.2013; 28(1): 12. CrossRef

Case Reports

A Case of Osteomalacia Caused by Severe Vitamin D Deficiency.: Seok Yeon Kim, Sang Youl Rhee, Soo Young Moon, Suk Chon, In Kyung Jeong, Seungjoon Oh, Kyu Jeung Ahn, Deog Yoon Kim, Ho Yeon Chung, Sung Woon Kim, Jin Woo Kim, Young Seol Kim, Jeong Taek Woo; J Korean Endocr Soc. 2007;22(1):55-61. Published online February 1, 2007; DOI: https://doi.org/10.3803/jkes.2007.22.1.55

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Abstract PDF

Vitamin D is a kind of hormone that can be synthesized in the skin or it is supplied in the diet it is involved in a central role in bone and calcium homeostasis in vivo. Metabolic bone diseases such as rickets in children and osteomalacia in adults can also be caused by deficiency or metabolic defects in the vitamin D hormone related system. However, there has been a lack of generalized epidemiologic studies about the vitamin D deficiency status in Koreans. We recently experienced a case of osteomalacia caused by severe vitamin D deficiency. These kinds of case have not been reported elsewhere in Korea for the last twenty years.

Citations

Citations to this article as recorded by

A Case of Nutritional Osteomalacia in Young Adult Male
Choong-Kyun Noh, Min-Jeong Lee, Bu Kyung Kim, Yoon-Sok Chung
Journal of Bone Metabolism.2013; 20(1): 51. CrossRef

A Case of Familial Hypocalciuric Hypercalcemia Coexisting with Low Bone Mass.: Sung Wan Chun, Se Hwa Kim, Jong Yul Jung, Won Na Suh, Ji Ae Moon, Jong In Yook, Yoon Sok Chung, Yumie Rhee, Eun Jig Lee, Sung Kil Lim; J Korean Endocr Soc. 2006;21(6):583-588. Published online December 1, 2006; DOI: https://doi.org/10.3803/jkes.2006.21.6.583

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Abstract PDF: Familial hypocalciuric hypercalcemia is caused by heterozygous loss-of-function mutation of the calcium sensing receptor gene, and this is characterized by mild, persistently elevated levels of serum calcium without symptoms or complications. We present a case of clinically diagnosed familial hypocalciuric hypercalcemia with unexpected low bone mass. A 19-year-old man presented with incidentally discovered hypercalcemia. He showed normal growth and sexual maturation. Biochemical studies showed hypercalcemia, increased parathyroid hormone, hypocalciuria, a decreased urinary calcium-creatinine ratio and decreased serum 25-hydroxy-vitamin D. The other hormonal studies were normal. Dual energy x-ray absorptiometry showed low bone mineral density, and the Sestamibi scan showed no abnormality in the parathyroid glands. Iliac bone biopsy showed a general decrease in bone density and increased porosity of the cortical bone. Normal mineralization was also shown, but in part, osteoid deposition was also found. Direct sequencing of the patient's calcium sensing receptor gene showed a point mutation at exon7, Q926R.

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