rs4331426

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.

Replication study of two TB susceptibility SNPs (rs4331426 and rs2335704) identified in African populations. In a cohort of 1,385 Chinese TB cases and 1,280 controls, only rs4331426 showed significant association (p=0.011), but with opposite effect direction: the G allele was protective in Chinese (OR=0.62, 95% CI 0.44-0.87) versus risk-increasing in African populations (OR=1.19, 95% CI 1.12-1.26). No significant association was found for rs2335704 (p=0.91).

This is a special issue of the Italian medical journal BeAdfiles (September 2012) dedicated to genetic conditioning in HIV and hepatitis virus infections. It reviews the major genetic polymorphisms that influence disease progression, treatment response, and drug toxicity in HIV and chronic hepatitis B and C infections, with particular emphasis on IL28B polymorphisms (rs809917 and others) predicting HCV treatment response to interferon-alpha and ribavirin therapy, and ITPA gene variants protecting against ribavirin-induced anemia. The issue also covers pharmacogenetic markers (CYP2B6, ABCB1, HLA-B*5701) and their clinical applications in antiretroviral therapy.