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Original Articles
Thyroid
Comparison of Immunohistochemistry and Direct Sanger Sequencing for Detection of the BRAFV600E Mutation in Thyroid Neoplasm
Hye-Seon Oh, Hyemi Kwon, Suyeon Park, Mijin Kim, Min Ji Jeon, Tae Yong Kim, Young Kee Shong, Won Bae Kim, Jene Choi, Won Gu Kim, Dong Eun Song
Endocrinol Metab. 2018;33(1):62-69.   Published online January 30, 2018
DOI: https://doi.org/10.3803/EnM.2018.33.1.62
  • 5,813 View
  • 69 Download
  • 17 Web of Science
  • 19 Crossref
AbstractAbstract PDFSupplementary MaterialPubReader   ePub   
Background

The BRAFV600E mutation is the most common genetic alteration identified in papillary thyroid carcinoma (PTC). Because of its costs effectiveness and sensitivity, direct Sanger sequencing has several limitations. The aim of this study was to evaluate the efficiency of immunohistochemistry (IHC) as an alternative method to detect the BRAFV600E mutation in preoperative and postoperative tissue samples.

Methods

We evaluated 71 patients who underwent thyroid surgery with the result of direct sequencing of the BRAFV600E mutation. IHC staining of the BRAFV600E mutation was performed in 49 preoperative and 23 postoperative thyroid specimens.

Results

Sixty-two patients (87.3%) had PTC, and of these, BRAFV600E was confirmed by direct sequencing in 57 patients (91.9%). In 23 postoperative tissue samples, the BRAFV600E mutation was detected in 16 samples (70%) by direct sequencing and 18 samples (78%) by IHC. In 24 fine needle aspiration (FNA) samples, BRAFV600E was detected in 18 samples (75%) by direct sequencing and 16 samples (67%) by IHC. In 25 core needle biopsy (CNB) samples, the BRAFV600E mutation was detected in 15 samples (60%) by direct sequencing and 16 samples (64%) by IHC. The sensitivity and specificity of IHC for detecting the BRAFV600E mutation were 77.8% and 66.7% in FNA samples and 99.3% and 80.0% in CNB samples.

Conclusion

IHC could be an alternative method to direct Sanger sequencing for BRAFV600E mutation detection both in postoperative and preoperative samples. However, application of IHC to detect the BRAFV600E mutation in FNA samples is of limited value compared with direct sequencing.

Citations

Citations to this article as recorded by  
  • Circulating Nucleic Acids in Colorectal Cancer: Diagnostic and Prognostic Value
    Somayeh Igder, Mozhdeh Zamani, Shima Fakher, Morvarid Siri, Hassan Ashktorab, Negar Azarpira, Pooneh Mokarram, Sowjanya Thatikonda
    Disease Markers.2024; 2024: 1.     CrossRef
  • The Accurate Interpretation and Clinical Significance of Morphological Features of Fine Needle Aspiration Cells in Papillary Thyroid Carcinoma
    Xue-Jiao Xiong, Ming-Ming Xiao, Yi-Xia Zhang, Dong-Ge Liu, Mu-Lan Jin, Jian Wang, Hong-Tao Xu, Qing-Chang Li, Guang-Ping Wu, Giovanni Tuccari
    Analytical Cellular Pathology.2023; 2023: 1.     CrossRef
  • An effective approach for BRAF V600E mutation analysis of routine thyroid fine needle aspirates
    Tanupriya Agrawal, Liqiang Xi, Winnifred Navarro, Mark Raffeld, Snehal B. Patel, Mark J. Roth, Joanna Klubo‐Gwiezdzinska, Armando C. Filie
    Cytopathology.2022; 33(3): 344.     CrossRef
  • A dual identification strategy based on padlock ligation and CRISPR/Cas14a for highly specific detection of BRAF V600E mutation in clinical samples
    Weicheng Shi, Yao Gong, Decai Zhang, Tiantian Yang, Ming Yi, Jingyi Tan, Shijia Ding, Wei Cheng
    Analytical Methods.2022; 14(19): 1913.     CrossRef
  • Research Progress of BRAF V600E Gene Mutation in Papillary Thyroid Carcinoma
    延泽 刘
    Advances in Clinical Medicine.2022; 12(09): 8499.     CrossRef
  • VE1 immunohistochemistry is an adjunct tool for detection of BRAFV600E mutation: Validation in thyroid cancer patients
    Faiza A. Rashid, Sobia Tabassum, Mosin S. Khan, Hifzur R. Ansari, Muhammad Asif, Ahmareen K. Sheikh, Syed Sameer Aga
    Journal of Clinical Laboratory Analysis.2021;[Epub]     CrossRef
  • BRAF testing in a South African cohort of MLH1 deficient endometrial carcinomas: lessons learnt
    Reubina Wadee, Wayne Grayson
    Southern African Journal of Gynaecological Oncology.2021; 13(1): 1.     CrossRef
  • Association between mutation profiles and clinicopathological features in Chinese patients with thyroid cancer
    Changwen Jing, Haixia Cao, Rong Ma, Jianzhong Wu, Zhuo Wang
    Precision Medical Sciences.2021; 10(3): 113.     CrossRef
  • Development of a Molecular Assay for Detection and Quantification of theBRAFVariation in Residual Tissue From Thyroid Nodule Fine-Needle Aspiration Biopsy Specimens
    Guodong Fu, Ronald S. Chazen, Christina MacMillan, Ian J. Witterick
    JAMA Network Open.2021; 4(10): e2127243.     CrossRef
  • Variations in MAP kinase gladiators and risk of differentiated thyroid carcinoma
    Faiza Rashid, Ghulam Bhat, Mosin Khan, Sobia Tabassum, Mohammad Bhat
    Molecular and Clinical Oncology.2021;[Epub]     CrossRef
  • Порівняльне імуногістохімічне дослідження BRAFV600E-позитивних і BRAFV600E-негативних радіогенних і спорадичних папілярних тиреоїдних карцином
    L. Yu. Zurnadzhy, T.I. Rogounovitch, V.O. Saenko, M.Yu. Bolgov, S.V. Masiuk, S.V. Burko, T.L. Degtyaryova, S.V. Chernyshov, S.V. Gulevatyi, N. Mitsutake, M.D. Tronko, T.I. Bogdanova
    Endokrynologia.2021; 26(2): 105.     CrossRef
  • Evaluation of the expression levels of BRAFV600E mRNA in primary tumors of thyroid cancer using an ultrasensitive mutation assay
    Tien Viet Tran, Kien Xuan Dang, Quynh Huong Pham, Ung Dinh Nguyen, Nhung Thi Trang Trinh, Luong Van Hoang, Son Anh Ho, Ba Van Nguyen, Duc Trong Nguyen, Dung Tuan Trinh, Dung Ngoc Tran, Arto Orpana, Ulf-Håkan Stenman, Jakob Stenman, Tho Huu Ho
    BMC Cancer.2020;[Epub]     CrossRef
  • VE1 Immunohistochemistry Improves the Limit of Genotyping for Detecting BRAFV600E Mutation in Papillary Thyroid Cancer
    Sonam Choden, Somboon Keelawat, Chan Kwon Jung, Andrey Bychkov
    Cancers.2020; 12(3): 596.     CrossRef
  • Comparison of Molecular Methods and BRAF Immunohistochemistry (VE1 Clone) for the Detection of BRAF V600E Mutation in Papillary Thyroid Carcinoma: A Meta-Analysis
    Kyle G. Parker, Michael G. White, Nicole A. Cipriani
    Head and Neck Pathology.2020; 14(4): 1067.     CrossRef
  • Next generation sequencing based detection of 15 target genes mutations in papillary thyroid carcinoma
    Zhuo Wang, Changwen Jing, Haixia Cao, SiWen Liu, Jianzhong Wu, Rong Ma
    Precision Medical Sciences.2020; 9(2): 90.     CrossRef
  • A Systematic Review and Meta-Analysis of the Diagnostic Performance of BRAF V600E Immunohistochemistry in Thyroid Histopathology
    Ranjit Singarayer, Ozgur Mete, Laure Perrier, Lehana Thabane, Sylvia L. Asa, Stan Van Uum, Shereen Ezzat, David P. Goldstein, Anna M. Sawka
    Endocrine Pathology.2019; 30(3): 201.     CrossRef
  • Comparison of droplet digital PCR and direct Sanger sequencing for the detection of the BRAFV600E mutation in papillary thyroid carcinoma
    Zhuo Wang, Kejing Sun, Changwen Jing, Haixia Cao, Rong Ma, Jianzhong Wu
    Journal of Clinical Laboratory Analysis.2019;[Epub]     CrossRef
  • Immunohistochemistry Innovations for Diagnosis and Tissue-Based Biomarker Detection
    Narittee Sukswai, Joseph D. Khoury
    Current Hematologic Malignancy Reports.2019; 14(5): 368.     CrossRef
  • Immunohistochemistry is a feasible method to screen BRAF V600E mutation in colorectal and papillary thyroid carcinoma
    Xiangyan Zhang, Lili Wang, Jigang Wang, Han Zhao, Jie Wu, Shuhong Liu, Lu Zhang, Yujun Li, Xiaoming Xing
    Experimental and Molecular Pathology.2018; 105(1): 153.     CrossRef
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Clinical Study
Molecular Diagnosis Using Residual Liquid-Based Cytology Materials for Patients with Nondiagnostic or Indeterminate Thyroid Nodules
Hyemi Kwon, Won Gu Kim, Markus Eszlinger, Ralf Paschke, Dong Eun Song, Mijin Kim, Suyeon Park, Min Ji Jeon, Tae Yong Kim, Young Kee Shong, Won Bae Kim
Endocrinol Metab. 2016;31(4):586-591.   Published online November 4, 2016
DOI: https://doi.org/10.3803/EnM.2016.31.4.586
  • 4,177 View
  • 41 Download
  • 11 Web of Science
  • 12 Crossref
AbstractAbstract PDFPubReader   
Background

Molecular analysis for common somatic mutations in thyroid cancer can improve diagnostic accuracy of fine-needle aspiration cytology (FNAC) in the nondiagnostic or indeterminate category of thyroid nodules. In this study, we evaluated the feasibility of molecular diagnosis from residual liquid-based cytology (LBC) material after cytological diagnosis.

Methods

This prospective study enrolled 53 patients with thyroid nodules diagnosed as nondiagnostic, atypia of undetermined significance (AUS), or follicular lesion of undetermined significance (FLUS) after FNAC. DNAs and RNAs were isolated from residual LBC materials. BRAFV600E and RAS point mutations, PAX8/peroxisome proliferator-activated receptor γ (PPARγ), RET/PTC1, and RET/PTC3 rearrangements were evaluated by real-time polymerase chain reaction and pyrosequencing.

Results

All DNAs from 53 residual LBC samples could be analysed and point mutations were detected in 10 samples (19%). In 17 AUS nodules, seven samples (41%) had point mutations including BRAF (n=4), NRAS (n=2), and KRAS (n=1). In 20 FLUS nodules, three samples (15%) had NRAS point mutations. RNA from only one FLUS nodule could be analysed for rearrangements and there was no abnormality.

Conclusion

Molecular analysis for BRAF and RAS mutations was feasible in residual LBC materials and might be useful for diagnosis of indeterminate thyroid nodules.

Citations

Citations to this article as recorded by  
  • Kras Gene Analysis Using Liquid-Based Cytology Specimens Predicts Therapeutic Responses and Prognosis in Patients with Pancreatic Cancer
    Masahiro Itonaga, Reiko Ashida, Shin-Ichi Murata, Yasunobu Yamashita, Keiichi Hatamaru, Takashi Tamura, Yuki Kawaji, Yuudai Kayama, Tomoya Emori, Manabu Kawai, Hiroki Yamaue, Ibu Matsuzaki, Hirokazu Nagai, Yuichi Kinoshita, Ke Wan, Toshio Shimokawa, Masay
    Cancers.2022; 14(3): 551.     CrossRef
  • From Traditional Histology to Next-Generation Pathology: A Review of The Workflow for the Characterisation and Molecular Profiling of Non-Small Cell Lung Cancer Samples

    EMJ Oncology.2020;[Epub]     CrossRef
  • Preanalytic variables in quality and quantity of nucleic acids extracted from FNA specimens of thyroid gland nodules collected in CytoLyt: Cellularity and storage time
    Jonas J. Heymann, Lorene M. Yoxtheimer, Hyeon Jin Park, Evan M. Fernandez, Kirk E. Facey, Susan A. Alperstein, Hung V. Tran, Inji Baek, Theresa Scognamiglio, Hanna Rennert, Momin T. Siddiqui, Wei Song
    Cancer Cytopathology.2020; 128(9): 656.     CrossRef
  • Diagnostic accuracy of molecular testing with three molecular markers on thyroid fine‐needle aspiration cytology with abnormal category
    Hatice Seneldir, Gozde Kir, Tuce Soylemez, Rabia B. Girgin, Nurver Ozbay, Filiz Ozen, Handan Ankarali, Gurhan Bas, Orhan Alimoglu
    Diagnostic Cytopathology.2020; 48(6): 507.     CrossRef
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    Qiong Gan, Sinchita Roy-Chowdhuri
    Journal of the American Society of Cytopathology.2020; 9(5): 450.     CrossRef
  • Centrifuged supernatants from FNA provide a liquid biopsy option for clinical next‐generation sequencing of thyroid nodules
    Wenrui Ye, Brette Hannigan, Stephanie Zalles, Meenakshi Mehrotra, Bedia A. Barkoh, Michelle D. Williams, Maria E. Cabanillas, Beth Edeiken‐Monroe, Peter Hu, Dzifa Duose, Ignacio I. Wistuba, L. Jeffrey Medeiros, John Stewart, Rajyalakshmi Luthra, Sinchita
    Cancer Cytopathology.2019; 127(3): 146.     CrossRef
  • Molecular testing of residual cytology samples: Rethink, reclaim, repurpose
    Sinchita Roy‐Chowdhuri
    Cancer Cytopathology.2019; 127(1): 15.     CrossRef
  • K-ras mutation analysis of residual liquid-based cytology specimens from endoscopic ultrasound-guided fine needle aspiration improves cell block diagnosis of pancreatic ductal adenocarcinoma
    Yoko Sekita-Hatakeyama, Takeshi Nishikawa, Mao Takeuchi, Kouhei Morita, Maiko Takeda, Kinta Hatakeyama, Tokiko Nakai, Tomoko Uchiyama, Hiroe Itami, Tomomi Fujii, Akira Mitoro, Masayuki Sho, Chiho Ohbayashi, Giancarlo Troncone
    PLOS ONE.2018; 13(3): e0193692.     CrossRef
  • Comparison of Immunohistochemistry and Direct Sanger Sequencing for Detection of theBRAFV600EMutation in Thyroid Neoplasm
    Hye-Seon Oh, Hyemi Kwon, Suyeon Park, Mijin Kim, Min Ji Jeon, Tae Yong Kim, Young Kee Shong, Won Bae Kim, Jene Choi, Won Gu Kim, Dong Eun Song
    Endocrinology and Metabolism.2018; 33(1): 62.     CrossRef
  • Next-Generation Sequencing Identifies Gene Mutations That Are Predictive of Malignancy in Residual Needle Rinses Collected From Fine-Needle Aspirations of Thyroid Nodules
    Maren Y. Fuller, Dina Mody, April Hull, Kristi Pepper, Heather Hendrickson, Randall Olsen
    Archives of Pathology & Laboratory Medicine.2018; 142(2): 178.     CrossRef
  • Articles inEndocrinology and Metabolismin 2016
    Won-Young Lee
    Endocrinology and Metabolism.2017; 32(1): 62.     CrossRef
  • Loss of c-KIT expression in thyroid cancer cells
    Sara Franceschi, Francesca Lessi, Federica Panebianco, Elena Tantillo, Marco La Ferla, Michele Menicagli, Paolo Aretini, Alessandro Apollo, Antonio Giuseppe Naccarato, Ivo Marchetti, Chiara Maria Mazzanti, Aamir Ahmad
    PLOS ONE.2017; 12(3): e0173913.     CrossRef
Close layer
Clinical Study
Usefulness of Measuring Thyroid Stimulating Antibody at the Time of Antithyroid Drug Withdrawal for Predicting Relapse of Graves Disease
Hyemi Kwon, Won Gu Kim, Eun Kyung Jang, Mijin Kim, Suyeon Park, Min Ji Jeon, Tae Yong Kim, Jin-Sook Ryu, Young Kee Shong, Won Bae Kim
Endocrinol Metab. 2016;31(2):300-310.   Published online April 25, 2016
DOI: https://doi.org/10.3803/EnM.2016.31.2.300
  • 4,966 View
  • 87 Download
  • 20 Web of Science
  • 19 Crossref
AbstractAbstract PDFPubReader   
Background

Hyperthyroidism relapse in Graves disease after antithyroid drug (ATD) withdrawal is common; however, measuring the thyrotropin receptor antibody (TRAb) at ATD withdrawal in order to predict outcomes is controversial. This study compared measurement of thyroid stimulatory antibody (TSAb) and thyrotropin-binding inhibitory immunoglobulin (TBII) at ATD withdrawal to predict relapse.

Methods

This retrospective study enrolled patients with Graves disease who were treated with ATDs and whose serum thyroid-stimulating hormone levels were normal after receiving low-dose ATDs. ATD therapy was stopped irrespective of TRAb positivity after an additional 6 months of receiving the minimum dose of ATD therapy. Patients were followed using thyroid function tests and TSAb (TSAb group; n=35) or TBII (TBII group; n=39) every 3 to 6 months for 2 years after ATD withdrawal.

Results

Twenty-eight patients (38%) relapsed for a median follow-up of 21 months, and there were no differences in baseline clinical characteristics between groups. In the TSAb group, relapse was more common in patients with positive TSAb at ATD withdrawal (67%) than patients with negative TSAb (17%; P=0.007). Relapse-free survival was shorter in TSAb-positive patients. In the TBII group, there were no differences in the relapse rate and relapse-free survivals according to TBII positivity. For predicting Graves disease relapse, the sensitivity and specificity of TSAb were 63% and 83%, respectively, whereas those of TBII were 28% and 65%.

Conclusion

TSAb at ATD withdrawal can predict the relapse of Graves hyperthyroidism, but TBII cannot. Measuring TSAb at ATD withdrawal can assist with clinical decisions making for patients with Graves disease.

Citations

Citations to this article as recorded by  
  • Analysis of Related Factors in Refractory Graves’ Disease
    鑫 王
    Advances in Clinical Medicine.2023; 13(08): 13439.     CrossRef
  • Interpretation of Thyroid Autoantibodies in Hyperthyroidism
    Han-Sang Baek, Dong-Jun Lim
    The Korean Journal of Medicine.2023; 98(3): 132.     CrossRef
  • The Early Changes in Thyroid-Stimulating Immunoglobulin Bioassay over Anti-Thyroid Drug Treatment Could Predict Prognosis of Graves’ Disease
    Jin Yu, Han-Sang Baek, Chaiho Jeong, Kwanhoon Jo, Jeongmin Lee, Jeonghoon Ha, Min Hee Kim, Jungmin Lee, Dong-Jun Lim
    Endocrinology and Metabolism.2023; 38(3): 338.     CrossRef
  • Thyroid-Stimulatory Antibody as a Predictive Factor for Graves’ Disease Relapse
    Tiago Da Silva Santos, José Carlos Oliveira, Cláudia Freitas, André Couto de Carvalho
    Cureus.2022;[Epub]     CrossRef
  • The Prediction Model Using Thyroid-stimulating Immunoglobulin Bioassay For Relapse of Graves’ Disease
    Han-Sang Baek, Jaejun Lee, Chai-Ho Jeong, Jeongmin Lee, Jeonghoon Ha, Kwanhoon Jo, Min-Hee Kim, Jae Hyoung Cho, Moo Il Kang, Dong-Jun Lim
    Journal of the Endocrine Society.2022;[Epub]     CrossRef
  • Identification of patients with Graves’ disease who benefit from high-dose radioactive iodine therapy
    Shiro Watanabe, Shozo Okamoto, Kazumasa Akikawa, Noriyuki Miyamoto, Miyuki Okamura-Kawasaki, Yuko Uchiyama, Junki Takenaka, Takuya Toyonaga, Kenji Hirata, Kohsuke Kudo
    Annals of Nuclear Medicine.2022; 36(11): 923.     CrossRef
  • The relationship between atherosclerotic disease and relapse during ATD treatment
    Xinxin Zhu, Yaguang Zhang, Xiaoyu Zhao, Xiaona Zhang, Zixuan Ru, Yanmeizhi Wu, Xu Yang, Boyu Hou, Hong Qiao
    Frontiers in Cardiovascular Medicine.2022;[Epub]     CrossRef
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    Jae Hoon Chung
    Endocrinology and Metabolism.2021; 36(3): 491.     CrossRef
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    Yulin Zhou, Mengxi Zhou, Yicheng Qi, Weiqing Wang, Xinxin Chen, Shu Wang
    Therapeutic Advances in Endocrinology and Metabolism.2021; 12: 204201882110449.     CrossRef
  • Changes in Thyroid Peroxidase and Thyroglobulin Antibodies Might Be Associated with Graves' Disease Relapse after Antithyroid Drug Therapy
    Yun Mi Choi, Mi Kyung Kwak, Sang Mo Hong, Eun-Gyoung Hong
    Endocrinology and Metabolism.2019; 34(3): 268.     CrossRef
  • Graves' Disease: Can It Be Cured?
    Wilmar M. Wiersinga
    Endocrinology and Metabolism.2019; 34(1): 29.     CrossRef
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    Hyun-Kyung Chung
    International Journal of Thyroidology.2019; 12(2): 79.     CrossRef
  • When should antithyroid drug therapy to reduce the relapse rate of hyperthyroidism in Graves’ disease be discontinued?
    Suyeon Park, Eyun Song, Hye-Seon Oh, Mijin Kim, Min Ji Jeon, Won Gu Kim, Tae Yong Kim, Young Kee Shong, Doo Man Kim, Won Bae Kim
    Endocrine.2019; 65(2): 348.     CrossRef
  • Elevated Serum IL-17 Expression at Cessation Associated with Graves’ Disease Relapse
    Jianhui Li, Xiaohua Sun, Danzhen Yao, Jinying Xia
    International Journal of Endocrinology.2018; 2018: 1.     CrossRef
  • Active Surveillance for Patients With Papillary Thyroid Microcarcinoma: A Single Center’s Experience in Korea
    Hyemi Kwon, Hye-Seon Oh, Mijin Kim, Suyeon Park, Min Ji Jeon, Won Gu Kim, Won Bae Kim, Young Kee Shong, Dong Eun Song, Jung Hwan Baek, Ki-Wook Chung, Tae Yong Kim
    The Journal of Clinical Endocrinology & Metabolism.2017; 102(6): 1917.     CrossRef
  • Free Thyroxine, Anti-Thyroid Stimulating Hormone Receptor Antibody Titers, and Absence of Goiter Were Associated with Responsiveness to Methimazole in Patients with New Onset Graves' Disease
    Hoon Sung Choi, Won Sang Yoo
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  • The Second Antithyroid Drug Treatment Is Effective in Relapsed Graves' Disease Patients: A Median 11-Year Follow-Up Study
    Ye An Kim, Sun Wook Cho, Hoon Sung Choi, Shinje Moon, Jae Hoon Moon, Kyung Won Kim, Do Joon Park, Ka Hee Yi, Young Joo Park, Bo Youn Cho
    Thyroid.2017; 27(4): 491.     CrossRef
  • The Recurrence Rate of Graves' Disease among Patients with Subclinical Thyrotoxicosis after Initial Remission with Antithyroid Agents
    Myoung Sook Shim, Soo Min Nam, Jin Sae Yoo, Hae Kyung Kim, Sang Jun Lee, Mi Young Lee
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    Won-Young Lee
    Endocrinology and Metabolism.2017; 32(1): 62.     CrossRef
Close layer
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
  • 3,744 View
  • 39 Download
  • 4 Web of Science
  • 4 Crossref
AbstractAbstract PDFPubReader   
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
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    Won-Young Lee
    Endocrinology and Metabolism.2017; 32(1): 62.     CrossRef
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    Theocharis Tsironis, Athanasios Tychalas, Dimitrios Kiourtidis, Jannis Kountouras, Georgia Xiromerisiou, Jobst Rudolf, Georgia Deretzi
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    Zdeněk Doležel, Dana Novotná, Helena Schneiderová, Jan Papež, Martin Jouza
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Endocrinol Metab : Endocrinology and Metabolism