Celiac disease
From SNPedia
Celiac disease, also known as gluten intolerance, is an autoimmune disorder of genetically predisposed individuals, provoked by gluten proteins in wheat and related foods. Wikipedia
SNPs associated with celiac disease are primarily associated with certain HLA-DQ alleles, but there are several other loci that have also been associated. A partial list of SNPs include:
- In a 2003 survey of European studies, more than 85% of celiac patients carry the same HLA-DQ heterodimer DQA1*05 DQB1*02 encoded in cis or in trans [PMID 12209133]; almost all the remaining cases carry either the DQA1*05 or the DQB1*02 part of the DQ heterodimer, or DRB1*04-DQ8. [PMID 14571266]
- A large study of 2,000+ celiac disease patients found SNP associations in 7 chromosomal regions; six harbor genes controlling immune responses, including CCR3, IL12A, IL18RAP, RGS1, SH2B3 (rs3184504) and TAGAP.[PMID 18311140]
- rs2305764, a SNP in the MYO9B gene [PMID 16282976]
- rs13119723 and rs6822844, near the IL21 gene
