Cited by 1,276Diabetes and associated disordersGenetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

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A genome-wide search for human type 1 diabetes susceptibility genes

Davies, June L., Kawaguchi, Yoshihiko, Bennett, Simon T., Copeman, James B., Cordell, Heather J., Pritchard, Lynn E., Reed, Peter W., Gough, Stephen C. L., Jenkins, Suzanne C., Palmer, Sheila M., Balfour, Karen M., Rowe, Beth R., Farrall, Martin, Barnett, Anthony H., Bain, Stephen C., Todd, John A.·1994·Nature

DOI 10.1038/371130a0

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Abstract

We have searched the human genome for genes that predispose to type 1 (insulin-dependent) diabetes mellitus using semi-automated fluorescence-based technology and linkage analysis. In addition to IDDM1 (in the major histocompatibility complex on chromosome 6p21) and IDDM2 (in the insulin gene region on chromosome 11p15), eighteen different chromosome regions showed some positive evidence of linkage to disease. Linkages to chromosomes 11q (IDDM4) and 6q (IDDM5) were confirmed by replication, and chromosome 18 may encode a fifth disease locus. There are probably no genes with large effects aside from IDDM1. Therefore polygenic inheritance is indicated, with a major locus at the major histocompatibility complex.

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Authors: Davies, J. L., Kawaguchi, Y., Bennett, S. T., Copeman, J. B., Cordell, H. J., Pritchard, L. E., Reed, P. W., Gough, S. C. L., Jenkins, S. C., Palmer, S. M., Balfour, K. M., Rowe, B. R., Farrall, M., Barnett, A. H., Bain, S. C., & Todd, J. A.
Affiliations: John Radcliffe Hospital (GB)
Centre for Human Genetics (GB)
ORCID: Kawaguchi, Yoshihiko
Bennett, Simon T.
Cordell, Heather J.
Jenkins, Suzanne C.
Farrall, Martin
Barnett, Anthony H.
Bain, Stephen C.
Todd, John A.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 1994-09
Volume: 371
Issue: 6493
Pages: 130-136
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/371130a0
OpenAlex: W2074891952
Cited by: 1,276
References: 49
Citations by year: 2026: 2 · 2025: 5 · 2024: 4 · 2023: 11 · 2022: 6 · 2021: 7 · 2020: 8 · 2019: 11 · 2018: 10 · 2017: 11 · 2016: 7 · 2015: 12 · 2014: 17 · 2013: 17 · 2012: 26
FWCI: 72.19
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
Funders: Wellcome Trust
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, genetic susceptibility, linkage analysis, major histocompatibility complex, chromosome 6p21, chromosome 11q, chromosome 18, polygenic inheritance, disease locus
MeSH terms: Adolescent, Adult, Chromosome Mapping, Chromosomes, Human, Pair 11, Chromosomes, Human, Pair 6, Diabetes Mellitus, Type 1, Genetic Markers, Humans, Genetic Linkage, Major Histocompatibility Complex, Genome, Human, Genetic Predisposition to Disease

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A genome-wide search for human type 1 diabetes susceptibility genes

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