Cited by 1,456Diabetes and associated disordersGenetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

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Genetics of Type 1 Diabetes in Finland, Todd, John A, the Wellcome Trust Case Control Consortium, Walker, Neil M, Cooper, Jason D, Smyth, Deborah J, Downes, Kate, Plagnol, Vincent, Bailey, Rebecca, Nejentsev, Sergey, Field, Sarah F, Payne, Felicity, Lowe, Christopher E, Szeszko, Jeffrey S, Hafler, Jason P, Zeitels, Lauren, Yang, Jennie H M, Vella, Adrian, Nutland, Sarah, Stevens, Helen E, Schuilenburg, Helen, Coleman, Gillian, Maisuria, Meeta, Meadows, William, Smink, Luc J, Healy, Barry, Burren, Oliver S, Lam, Alex A C, Ovington, Nigel R, Allen, James, Adlem, Ellen, Leung, Hin-Tak, Wallace, Chris, Howson, Joanna M M, Guja, Cristian, Ionescu-Tîrgovişte, Constantin, Simmonds, Matthew J, Heward, Joanne M, Gough, Stephen C L, Dunger, David B, Wicker, Linda S, Clayton, David G·2007·Nature Genetics

DOI 10.1038/ng2068PMC PMC2492393

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Abstract

The Wellcome Trust Case Control Consortium (WTCCC) primary genome-wide association (GWA) scan on seven diseases, including the multifactorial autoimmune disease type 1 diabetes (T1D), shows associations at P < 5 × 10−7 between T1D and six chromosome regions: 12q24, 12q13, 16p13, 18p11, 12p13 and 4q27. Here, we attempted to validate these and six other top findings in 4,000 individuals with T1D, 5,000 controls and 2,997 family trios independent of the WTCCC study. We confirmed unequivocally the associations of 12q24, 12q13, 16p13 and 18p11 (Pfollow-up ≤ 1.35 × 10−9; Poverall ≤ 1.15 × 10−14), leaving eight regions with small effects or false-positive associations. We also obtained evidence for chromosome 18q22 (Poverall = 1.38 × 10−8) from a GWA study of nonsynonymous SNPs. Several regions, including 18q22 and 18p11, showed association with autoimmune thyroid disease. This study increases the number of T1D loci with compelling evidence from six to at least ten.

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Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
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Self-citation
Association study of the IL18RAP locus in three European populations with coeliac disease
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Authors: Finland, G. O. T. 1. D. I., Todd, J. A., the Wellcome Trust Case Control Consortium, Walker, N. M., Cooper, J. D., Smyth, D. J., Downes, K., Plagnol, V., Bailey, R., Nejentsev, S., Field, S. F., Payne, F., Lowe, C. E., Szeszko, J. S., Hafler, J. P., Zeitels, L., Yang, J. H. M., Vella, A., Nutland, S., Stevens, H. E., Schuilenburg, H., Coleman, G., Maisuria, M., Meadows, W., Smink, L. J., Healy, B., Burren, O. S., Lam, A. A. C., Ovington, N. R., Allen, J., Adlem, E., Leung, H.-T., Wallace, C., Howson, J. M. M., Guja, C., Ionescu-Tîrgovişte, C., Simmonds, M. J., Heward, J. M., Gough, S. C. L., Dunger, D. B., Wicker, L. S., & Clayton, D. G.
Affiliations: University of Cambridge (GB)
Mayo Clinic (US)
Queen Mary University of London (GB)
University of Birmingham (GB)
Corresponding author: Todd, John A
ORCID: Todd, John A
Walker, Neil M
Cooper, Jason D
Smyth, Deborah J
Downes, Kate
Plagnol, Vincent
Nejentsev, Sergey
Payne, Felicity
Yang, Jennie H M
Vella, Adrian
Schuilenburg, Helen
Burren, Oliver S
Allen, James
Wallace, Chris
Howson, Joanna M M
Guja, Cristian
Simmonds, Matthew J
Dunger, David B
Wicker, Linda S
Clayton, David G
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2007-06-06
Volume: 39
Issue: 7
Pages: 857-864
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng2068
PMC: PMC2492393
OpenAlex: W2014077667
Semantic Scholar: 15428b611f4dc565b437064d6d67ac0dfdc439e8
Cited by: 1,456
References: 32
Citations by year: 2026: 13 · 2025: 37 · 2024: 34 · 2023: 28 · 2022: 30 · 2021: 53 · 2020: 53 · 2019: 54 · 2018: 41 · 2017: 51 · 2016: 41 · 2015: 67 · 2014: 87 · 2013: 102 · 2012: 110
FWCI: 95.32
Type: journal article
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
Lincoln Repository (University of Lincoln) (acceptedVersion)
PubMed Central (acceptedVersion)
UCL Discovery (University College London) (submittedVersion)
Figshare (submittedVersion, cc-by)
University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
Bristol Research (University of Bristol) (submittedVersion)
Data Archiving and Networked Services (DANS) (submittedVersion)
Funders: Wellcome Trust (061859/B/00/Z, 061858, 089989)
Diabetes UK
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Diabetes and associated disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
Keywords: type 1 diabetes, genome-wide association study, genetic susceptibility loci, chromosome 12q24, chromosome 12q13, chromosome 16p13, non-synonymous SNPs, autoimmune thyroid disease, Wellcome Trust Case Control Consortium
MeSH terms: Adolescent, Chromosome Mapping, Diabetes Mellitus, Type 1, Humans, Genome, Human, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide

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Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes

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