Article
Additive and interaction effects at three amino acid positions in HLA-DQ and HLA-DR molecules drive type 1 diabetes risk.
Nature genetics - 1 Aug 2015
Hu Xinli, Deutsch Aaron J, Lenz Tobias L, Onengut-Gumuscu Suna, Han Buhm, Chen Wei-Min, Howson Joanna M M, Todd John A, de Bakker Paul I W, Rich Stephen S, Raychaudhuri Soumya
Abstract excerpt
Variation in the human leukocyte antigen (HLA) genes accounts for one-half of the genetic risk in type 1 diabetes (T1D). Amino acid changes in the HLA-DR and HLA-DQ molecules mediate most of the risk, but extensive linkage disequilibrium complicates the localization of independent effects. Using 18,832 case-control samples, we localized the signal to 3 amino acid positions in HLA-DQ and HLA-DR. HLA-DQβ1 position...
Topics
- Algorithms
- Amino Acids
- Case-Control Studies
- Diabetes Mellitus, Type 1
- Epistasis, Genetic
- Female
- Genotype
- HLA-DQ alpha-Chains
- HLA-DQ beta-Chains
- HLA-DRB1 Chains
- Haplotypes
- Humans
- Logistic Models