The DOI matches its Crossref record; 49 of the 49 references it cites were found in a registry or an index.
A genome-wide search for human type 1 diabetes susceptibility genes
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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“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.”
From 100 years of insulin: celebrating the past, present and future of diabetes therapy (2021) · cites this paper as [49]
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Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results
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Metadata
- 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
- 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
- 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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