Seven newly identified loci for autoimmune thyroid disease

被引：124

作者：

Cooper, Jason D. ^{[1
]}

Simmonds, Matthew J. ^{[2
]}

Walker, Neil M. ^{[1
]}

Burren, Oliver ^{[1
]}

Brand, Oliver J. ^{[2
]}

Guo, Hui ^{[1
]}

Wallace, Chris ^{[1
]}

Stevens, Helen ^{[1
]}

Coleman, Gillian ^{[1
]}

Franklyn, Jayne A. ^{[3
]}

Todd, John A. ^{[1
]}

Gough, Stephen C. L. ^{[2
,4
]}

机构：

[1] Univ Cambridge, Addenbrookes Hosp,Dept Med Genet, NIHR Cambridge Biomed Res Ctr,Cambridge Inst Med, Juvenile Diabet Res Fdn,Wellcome Trust Diabet & I, Cambridge CB2 2QQ, England

[2] Univ Oxford, Churchill Hosp, Oxford Ctr Diabet Endocrinol & Metab, Oxford, England

[3] Univ Birmingham, Inst Biomed Res, Sch Clin & Expt Med, Birmingham, W Midlands, England

[4] Churchill Hosp, NIHR Oxford Biomed Res Ctr, Oxford OX3 7LJ, England

来源：

HUMAN MOLECULAR GENETICS | 2012年 / 21卷 / 23期

基金：

英国惠康基金; 美国国家卫生研究院; 英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; RHEUMATOID-ARTHRITIS; SUSCEPTIBILITY LOCI; FUNCTIONAL VARIANT; MULTIPLE COMMON; GRAVES-DISEASE; RISK; METAANALYSIS;

D O I：

10.1093/hmg/dds357

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

070307 [化学生物学]; 071010 [生物化学与分子生物学];

摘要：

Autoimmune thyroid disease (AITD), including Graves disease (GD) and Hashimotos thyroiditis (HT), is one of the most common of the immune-mediated diseases. To further investigate the genetic determinants of AITD, we conducted an association study using a custom-made single-nucleotide polymorphism (SNP) array, the ImmunoChip. The SNP array contains all known and genotype-able SNPs across 186 distinct susceptibility loci associated with one or more immune-mediated diseases. After stringent quality control, we analysed 103 875 common SNPs (minor allele frequency 0.05) in 2285 GD and 462 HT patients and 9364 controls. We found evidence for seven new AITD risk loci (P 1.12 10(6); a permutation test derived significance threshold), five at locations previously associated and two at locations awaiting confirmation, with other immune-mediated diseases.

引用

页码：5202 / 5208

页数：7

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