Type-1 diabetes
Wikipedia's article on type-1 diabetes (T1D) is a good starting point.
The article at emedicine is written by a doctor for a general audience, and omim provides a summary for researchers.
Classically, the highest risk factor for type-1 diabetes is associated with HLA genotypes DR3/4 and DQ8. SNPs rs2040410 and rs7454108 encode the corresponding alleles, and a genoset (Gs121) evaluates Promethease users to assess whether they are DR3/4 or DQ8 carriers.
Genes likely to affect susceptibility include the following. [PMID 19430480]
Many other SNPs may contribute to the likelihood and severity of type-1 diabetes, including:
- Twelve SNPs published in 2007 from a large, multi-lab consortium's effort [PMID 17554300]:
- rs7574865 is associated with type-1 diabetes in addition to multiple autoimmune disorders such as rheumatoid arthritis and lupus
- rs3087243 is the best studied SNP in the negative regulator CTLA4 linked to Type-1 diabetes in some populations. [PMID 15629882]
- A particular mutation raises risk 80%
- rs237025 may increase the risk of both type 1 and type 2 diabetes.[PMID 17374705]
- rs3772534 has been reported to increase the risk of T1D (type 1 diabetes) in a Danish population studied, but in a larger English study, this did not replicate [PMID 17209142]
- rs1990760 has some association with T1D [PMID 16699517]
- rs2296336, a SNP in the ITPR3 gene, is associated with T1D in a Swedish population [PMID 16960798]
Islet transplantation seems to be emerging as an effective treatment [1]
Type 1 Diabetes
NEJM Shared and Distinct Genetic Variants in type-1 diabetes and celiac disease
- rs11594656
- rs11755527
- rs12708716
- rs12722495
- rs1464510
- rs1738074
- rs17810546
- rs1799864
- rs1893217
- rs1990760
- rs2069763
- rs2292239
- rs229541
- rs2476601
- rs2816316
- rs3087243
- rs3184504
- rs333
- rs3788013
- rs3825932
- rs41295061
- rs45450798
- rs478582
- rs6441961
- rs6822844
- rs689
- rs6897932
- rs763361
- rs917997
- rs947474
- rs9811792
DeCode reports that the following SNPs also contribute to susceptibility to T1D: