Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases

V Plagnol, JM Howson, DJ Smyth, N Walker, JP Hafler, C Wallace, H Stevens, L Jackson, MJ Simmonds, Consortium Type 1 Diabetes Genetics, PJ Bingley, SC Gough, JA Todd

Research output: Contribution to journalArticle (Academic Journal)peer-review

213 Citations (Scopus)

Abstract

The genetic basis of autoantibody production is largely unknown outside of associations located in the major histocompatibility complex (MHC) human leukocyte antigen (HLA) region. The aim of this study is the discovery of new genetic associations with autoantibody positivity using genome-wide association scan single nucleotide polymorphism (SNP) data in type 1 diabetes (T1D) patients with autoantibody measurements. We measured two anti-islet autoantibodies, glutamate decarboxylase (GADA, n = 2,506), insulinoma-associated antigen 2 (IA-2A, n = 2,498), antibodies to the autoimmune thyroid (Graves') disease (AITD) autoantigen thyroid peroxidase (TPOA, n = 8,300), and antibodies against gastric parietal cells (PCA, n = 4,328) that are associated with autoimmune gastritis. Two loci passed a stringent genome-wide significance level (p
Translated title of the contributionGenome-wide association analysis of autoantibody positivity in type 1 diabetes cases
Original languageEnglish
JournalPLoS Genetics
Volume7(8):e1002216
DOIs
Publication statusPublished - Aug 2011

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