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

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. +8 more·1994·Nature

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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Crossref · 10.1038/371130a0

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  • Linkage analysis of sibling pairs affected by type 1 diabetes identified an area on chromosome 11p15 that was subsequently mapped to a region upstream of the insulin gene as associated with type 1 diabetes.

    “In the 1990s, linkage analysis of sibling pairs affected by type 1 diabetes identified an area on chromosome 11p15 (ref. 49) that was subsequently mapped to a region upstream of the insulin gene50–52 as associated with type 1 diabetes.”

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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)
Venue
Nature
Published
1994-09
Volume
371
Issue
6493
Pages
130-136
ISSN
  • 0028-0836 (ISSN-L)
  • 1476-4687
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
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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