rs5742909

This study investigated five CTLA-4 SNPs (rs733618, rs4553808, rs5742909, rs3087243, rs231775) in 86 multiple myeloma patients and 154 controls to evaluate their association with bortezomib treatment outcomes. The rs733618 GG genotype was associated with significantly lower disease-free survival (0% vs 57.4%, P=0.020) and overall survival (46.3% vs 83.3%, P=0.026) compared to GA+AA carriers, with multivariate analysis showing rs733618 GG as a risk factor for overall survival (HR=0.012, 95% CI=0.001-0.199, P=0.002).

This comprehensive review examines the genomics of schizophrenia and pharmacogenomics of antipsychotic drugs, synthesizing evidence on over 200 genes associated with psychotic disorders. The authors discuss five categories of genes relevant to antipsychotic response: disease-associated genes, mechanism-of-action genes, drug metabolism genes (particularly CYP2D6, CYP2C19, CYP2C9, CYP3A4), drug transporter genes, and pleiotropic genes. The review details pharmacogenomic profiles of 20+ antipsychotic drugs and demonstrates significant ethnic and interindividual variation in drug metabolism phenotypes, with examples including CYP2D6 extensive metabolizers (55.71% of population), intermediate metabolizers (34.7%), poor metabolizers (2.28%), and ultra-rapid metabolizers (7.31%).

This case-control study examined 28 SNPs across CD28, CTLA4, and ICOS genes in 763 German melanoma patients and 734 controls to assess association with melanoma susceptibility and prognosis. While two CD28 polymorphisms (rs3181098 and rs3181100) showed differential allele distribution (OR 1.18, P=0.05 and OR 0.83, P=0.02 respectively), after multiple testing correction no convincing associations with melanoma risk or disease prognosis were detected.

This study investigated the association between three functional CTLA4 polymorphisms (C-318T rs5742909, A49G rs231775, and CT60 rs3087243) and juvenile idiopathic arthritis (JIA) using family-based and case-control analyses in a large cohort (531 JIA families plus 365 independent JIA cases and 551 controls). The authors found no significant associations between any of the CTLA4 variants and JIA overall or most JIA subtypes, and a meta-analysis of published studies also failed to confirm an association between CTLA4 variants and JIA.