Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes
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Authors
Maier, Lisa M
Smyth, Deborah J
Vella, Adrian
Payne, Felicity
Cooper, Jason
Pask, Rebecca
Lowe, Christopher E
Hulme, John S
Smink, Luc J
Fraser, Heather
Moule, Carolyn
Hunter, Kara M
Chamberlain, Giselle
Walker, Neil M
Nutland, Sarah
Undlien, Dag E
Ronningen, Kjersti S
Guja, Cristian
Ionescu-Tirgoviste, Constantin
Savage, David A
Strachan, David P
Peterson, Laurence
Todd, John
Wicker, Linda
Twells, Rebecca CJ
Publication Date
2005-02-18ISSN
1471-2156
Language
English
Type
Article
Metadata
Show full item recordCitation
Maier, L. M., Smyth, D. J., Vella, A., Payne, F., Cooper, J., Pask, R., Lowe, C. E., et al. (2005). Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes. https://doi.org/10.1186/1471-2156-6-9
Abstract
Abstract Background One strategy to help identify susceptibility genes for complex, multifactorial diseases is to map disease loci in a representative animal model of the disorder. The nonobese diabetic (NOD) mouse is a model for human type 1 diabetes. Linkage and congenic strain analyses have identified several NOD mouse Idd (insulin dependent diabetes) loci, which have been mapped to small chromosome intervals, for which the orthologous regions in the human genome can be identified. Here, we have conducted re-sequencing and association analysis of six orthologous genes identified in NOD Idd loci: NRAMP1/SLC11A1 (orthologous to Nramp1/Slc11a1 in Idd5.2), FRAP1 (orthologous to Frap1 in Idd9.2), 4-1BB/CD137/TNFRSF9 (orthologous to 4-1bb/Cd137/Tnrfrsf9 in Idd9.3), CD101/IGSF2 (orthologous to Cd101/Igsf2 in Idd10), B2M (orthologous to B2m in Idd13) and VAV3 (orthologous to Vav3 in Idd18). Results Re-sequencing of a total of 110 kb of DNA from 32 or 96 type 1 diabetes cases yielded 220 single nucleotide polymorphisms (SNPs). Sixty-five SNPs, including 54 informative tag SNPs, and a microsatellite were selected and genotyped in up to 1,632 type 1 diabetes families and 1,709 cases and 1,829 controls. Conclusion None of the candidate regions showed evidence of association with type 1 diabetes (P values > 0.2), indicating that common variation in these key candidate genes does not play a major role in type 1 diabetes susceptibility in the European ancestry populations studied.
Identifiers
External DOI: https://doi.org/10.1186/1471-2156-6-9
This record's URL: http://www.dspace.cam.ac.uk/handle/1810/237687
Rights
Rights Holder: Maier et al.; licensee BioMed Central Ltd.
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