Cargando…

Candidate gene associations reveal sex‐specific Graves’ disease risk alleles among Chinese Han populations

BACKGROUND: With several susceptibility single nucleotide polymorphisms identified by case–control association studies, Graves’ disease is one of the most common forms of autoimmune thyroid disease. In this study, we aimed to determine whether any observed differences in genetic associations are inf...

Descripción completa

Detalles Bibliográficos
Autores principales: Yan, Chen‐Yan, Ma, Yu‐Ru, Sun, Feng, Zhang, Rui‐Jia, Fang, Ya, Zhang, Qian‐Yue, Wu, Feng‐Yao, Zhao, Shuang‐Xia, Song, Huai‐Dong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336758/
https://www.ncbi.nlm.nih.gov/pubmed/32342657
http://dx.doi.org/10.1002/mgg3.1249
_version_ 1783554383951167488
author Yan, Chen‐Yan
Ma, Yu‐Ru
Sun, Feng
Zhang, Rui‐Jia
Fang, Ya
Zhang, Qian‐Yue
Wu, Feng‐Yao
Zhao, Shuang‐Xia
Song, Huai‐Dong
author_facet Yan, Chen‐Yan
Ma, Yu‐Ru
Sun, Feng
Zhang, Rui‐Jia
Fang, Ya
Zhang, Qian‐Yue
Wu, Feng‐Yao
Zhao, Shuang‐Xia
Song, Huai‐Dong
author_sort Yan, Chen‐Yan
collection PubMed
description BACKGROUND: With several susceptibility single nucleotide polymorphisms identified by case–control association studies, Graves’ disease is one of the most common forms of autoimmune thyroid disease. In this study, we aimed to determine whether any observed differences in genetic associations are influenced by sex in Chinese Han populations. METHODS: A total of 8,835 patients with Graves’ disease and 9,936 sex‐matched healthy controls were enrolled in the study. Confirmed by a two‐staged association analysis, sex‐specific analyses among 20 Graves’ disease susceptibility loci were conducted. RESULTS: A significant sex‐gene interaction was detected primarily at rs5912838 on Xq21.1 between the GPR174 and ITM2A genes, whereby male Graves’ disease patients possessed a significantly higher frequency of risk alleles than their female counterparts. Interestingly, compared to women, male patients with Graves’ disease had a higher cumulative genetic risk and higher persistent thyroid stimulating hormone receptor antibody‐positive rate after receiving antithyroid drug therapy for at least 1 year. CONCLUSION: The findings of this study suggest the existence of one potential sex‐specific Graves’ disease variant on Xq21.1. This could increase our understanding of the pivotal mechanism behind Graves’ disease and ultimately aid in identifying possible therapeutic targets.
format Online
Article
Text
id pubmed-7336758
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-73367582020-07-08 Candidate gene associations reveal sex‐specific Graves’ disease risk alleles among Chinese Han populations Yan, Chen‐Yan Ma, Yu‐Ru Sun, Feng Zhang, Rui‐Jia Fang, Ya Zhang, Qian‐Yue Wu, Feng‐Yao Zhao, Shuang‐Xia Song, Huai‐Dong Mol Genet Genomic Med Original Articles BACKGROUND: With several susceptibility single nucleotide polymorphisms identified by case–control association studies, Graves’ disease is one of the most common forms of autoimmune thyroid disease. In this study, we aimed to determine whether any observed differences in genetic associations are influenced by sex in Chinese Han populations. METHODS: A total of 8,835 patients with Graves’ disease and 9,936 sex‐matched healthy controls were enrolled in the study. Confirmed by a two‐staged association analysis, sex‐specific analyses among 20 Graves’ disease susceptibility loci were conducted. RESULTS: A significant sex‐gene interaction was detected primarily at rs5912838 on Xq21.1 between the GPR174 and ITM2A genes, whereby male Graves’ disease patients possessed a significantly higher frequency of risk alleles than their female counterparts. Interestingly, compared to women, male patients with Graves’ disease had a higher cumulative genetic risk and higher persistent thyroid stimulating hormone receptor antibody‐positive rate after receiving antithyroid drug therapy for at least 1 year. CONCLUSION: The findings of this study suggest the existence of one potential sex‐specific Graves’ disease variant on Xq21.1. This could increase our understanding of the pivotal mechanism behind Graves’ disease and ultimately aid in identifying possible therapeutic targets. John Wiley and Sons Inc. 2020-04-27 /pmc/articles/PMC7336758/ /pubmed/32342657 http://dx.doi.org/10.1002/mgg3.1249 Text en © 2020 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Original Articles
Yan, Chen‐Yan
Ma, Yu‐Ru
Sun, Feng
Zhang, Rui‐Jia
Fang, Ya
Zhang, Qian‐Yue
Wu, Feng‐Yao
Zhao, Shuang‐Xia
Song, Huai‐Dong
Candidate gene associations reveal sex‐specific Graves’ disease risk alleles among Chinese Han populations
title Candidate gene associations reveal sex‐specific Graves’ disease risk alleles among Chinese Han populations
title_full Candidate gene associations reveal sex‐specific Graves’ disease risk alleles among Chinese Han populations
title_fullStr Candidate gene associations reveal sex‐specific Graves’ disease risk alleles among Chinese Han populations
title_full_unstemmed Candidate gene associations reveal sex‐specific Graves’ disease risk alleles among Chinese Han populations
title_short Candidate gene associations reveal sex‐specific Graves’ disease risk alleles among Chinese Han populations
title_sort candidate gene associations reveal sex‐specific graves’ disease risk alleles among chinese han populations
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7336758/
https://www.ncbi.nlm.nih.gov/pubmed/32342657
http://dx.doi.org/10.1002/mgg3.1249
work_keys_str_mv AT yanchenyan candidategeneassociationsrevealsexspecificgravesdiseaseriskallelesamongchinesehanpopulations
AT mayuru candidategeneassociationsrevealsexspecificgravesdiseaseriskallelesamongchinesehanpopulations
AT sunfeng candidategeneassociationsrevealsexspecificgravesdiseaseriskallelesamongchinesehanpopulations
AT zhangruijia candidategeneassociationsrevealsexspecificgravesdiseaseriskallelesamongchinesehanpopulations
AT fangya candidategeneassociationsrevealsexspecificgravesdiseaseriskallelesamongchinesehanpopulations
AT zhangqianyue candidategeneassociationsrevealsexspecificgravesdiseaseriskallelesamongchinesehanpopulations
AT wufengyao candidategeneassociationsrevealsexspecificgravesdiseaseriskallelesamongchinesehanpopulations
AT zhaoshuangxia candidategeneassociationsrevealsexspecificgravesdiseaseriskallelesamongchinesehanpopulations
AT songhuaidong candidategeneassociationsrevealsexspecificgravesdiseaseriskallelesamongchinesehanpopulations