rs2280788

Immunogenetic study of pulmonary tuberculosis in a Spanish population (n=577), investigating HLA, KIR genes, and immune response genes. Found associations of HLA alleles (HLA-A*02, HLA-B*07, HLA-C*08, HLA-DRB1*04) with TB susceptibility/resistance, KIR gene distributions with TB progression, CCL5 promoter polymorphisms (rs2280788, rs2107538) with TB susceptibility, IL-17 rs2275913 -152G allele with increased TB risk (OR 1.40), TLR1 rs5743618 (T1805G) in recessive model, and Dectin-1/CARD9 haplotypes (rs3901533, rs7309123, rs16910526, rs4077515) associated with TB susceptibility.

A retrospective case-control study investigating immunogenetic factors in pulmonary tuberculosis (TBP) conducted in Cantabria, Spain with 318 TBP patients, 218 latently infected (ITL) individuals, and 524 healthy controls. Multiple HLA alleles and immune-related genetic polymorphisms were analyzed for association with TB susceptibility. Key findings include HLA-B07, B08, B14, B44 as protective factors against active disease; the IL-17 -152G allele (rs2275913) and GG genotype significantly more frequent in TBP patients (OR 1.40-1.59, p<0.02); TLR1 1805G polymorphism (rs5743618) associated with TB susceptibility; and KIR gene frequency variations between study groups.

Candidate gene association study of 67 genetic variants in 27 inflammation and DNA repair genes with hepatitis A virus (HAV) infection susceptibility in 6,779 NHANES III participants (2,619 non-Hispanic whites, 2,095 non-Hispanic blacks, 2,065 Mexican Americans). Among Mexican Americans, ABCB1 rs1045642 T allele was associated with lower HAV seropositivity risk (OR=0.79, p<0.001), while TGFB1 rs1800469 and XRCC1 rs1799782 T alleles were associated with increased risk (OR=1.38 and 1.57, respectively). CAT rs769214 and CYP2E1 rs2031920 showed marginal associations with decreased and increased HAV risk, respectively.