Journal article
Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
- 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<10(-10)): 1q23/FCRL3 with IA-2A and 9q34/ABO with PCA. Eleven of 52 non-MHC T1D loci showed evidence of association with at least one autoantibody at a false discovery rate of 16%: 16p11/IL27-IA-2A, 2q24/IFIH1-IA-2A and PCA, 2q32/STAT4-TPOA, 10p15/IL2RA-GADA, 6q15/BACH2-TPOA, 21q22/UBASH3A-TPOA, 1p13/PTPN22-TPOA, 2q33/CTLA4-TPOA, 4q27/IL2/TPOA, 15q14/RASGRP1/TPOA, and 12q24/SH2B3-GADA and TPOA. Analysis of the TPOA-associated loci in 2,477 cases with Graves' disease identified two new AITD loci (BACH2 and UBASH3A).
- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Preview, Version of record, pdf, 132.5KB, Terms of use)
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- Publisher copy:
- 10.1371/journal.pgen.1002216
Authors
- Publisher:
- Public Library of Science
- Journal:
- PLoS genetics More from this journal
- Volume:
- 7
- Issue:
- 8
- Article number:
- e1002216
- Publication date:
- 2011-08-01
- DOI:
- EISSN:
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1553-7404
- ISSN:
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1553-7390
- Language:
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English
- Keywords:
-
- UUID:
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uuid:dfa0b353-30c3-466a-a962-32d4555fb166
- Local pid:
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pubs:179686
- Source identifiers:
-
179686
- Deposit date:
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2012-12-19
Terms of use
- Copyright holder:
- Plagnol et al
- Copyright date:
- 2011
- Notes:
- Copyright 2011 Plagnol et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
- Licence:
- CC Attribution (CC BY)
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