Seven newly identified loci for autoimmune thyroid disease

Jason D. Cooper; Matthew J. Simmonds; Neil M. Walker; Oliver Burren; Oliver J. Brand; Hui Guo; Chris Wallace; Helen Stevens; Gillian Coleman; Wellcome Trust Case Control Consortium; Jayne A. Franklyn; John A. Todd; Stephen C.L. Gough; Craig Mowat

doi:10.1093/hmg/dds357

Seven newly identified loci for autoimmune thyroid disease

Jason D. Cooper (Lead / Corresponding author), Matthew J. Simmonds, Neil M. Walker, Oliver Burren, Oliver J. Brand, Hui Guo, Chris Wallace, Helen Stevens, Gillian Coleman, Wellcome Trust Case Control Consortium, Jayne A. Franklyn, John A. Todd, Stephen C.L. Gough, Craig Mowat (Contributing member)

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Abstract

Autoimmune thyroid disease (AITD), including Graves' disease (GD) and Hashimoto's 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.

Original language	English
Pages (from-to)	5202-5208
Number of pages	7
Journal	Human Molecular Genetics
Volume	21
Issue number	23
DOIs	https://doi.org/10.1093/hmg/dds357
Publication status	Published - 1 Dec 2012

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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10.1093/hmg/dds357Licence: CC BY-NC

Final published versionFinal published version, 145 KBLicence: CC BY-NC

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title = "Seven newly identified loci for autoimmune thyroid disease",

abstract = "Autoimmune thyroid disease (AITD), including Graves' disease (GD) and Hashimoto's 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.",

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AU - Guo, Hui

AU - Wallace, Chris

AU - Stevens, Helen

AU - Coleman, Gillian

AU - Wellcome Trust Case Control Consortium

AU - Franklyn, Jayne A.

AU - Todd, John A.

AU - Gough, Stephen C.L.

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AB - Autoimmune thyroid disease (AITD), including Graves' disease (GD) and Hashimoto's 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.

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Seven newly identified loci for autoimmune thyroid disease

Abstract

ASJC Scopus subject areas

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