Abstract:
Human genome variations, typically represented by genome-wide single nucleotide polymorphisms (SNPs), define human disease risks. “Genotype imputation” is a widely used approach in data analysis of human genetics. By applying genotype imputation to the ~500,000 genome-wide SNP genotype data obtained using SNP microarrays, one can computationally impute genotype data of the ~10,000,000 unobserved (i.e. ungenotyped) SNPs. Recently, genotype imputation was applied to the variations in the Human leukocyte antigen (HLA) genes, which is called “HLA imputation”. We have applied HLA imputation to the Japanese population, and identified that population-specific long HLA haplotypes characterize the HLA gene structures of the populations. We also reported that amino acid polymorphisms of the multiple classical HLA genes have risk of Graves’ disease, an autoimmune disease of thyroid.
Best,
Alex