rs717620

This pilot study investigated associations between genetic polymorphisms in transporter genes (SLC19A1, ABCC2, ABCB1, ABCC1, ABCC3, ABCG2) and clinical response to methotrexate (MTX) in 100 Chinese rheumatoid arthritis (RA) patients. Multiple SNPs showed significant associations with MTX response: SLC19A1 rs12659 and rs3788200 major alleles were associated with EULAR good/moderate response (RR=1.42-1.45, p=0.03-0.04); ABCC2 rs3740066 major allele was associated with DAS28-ESR low disease activity (RR=0.67, p=0.02). Haplotype analysis identified significant associations of SLC19A1 and ABCC2 haplotypes with clinical response outcomes.

Case-control study of 1,000 Han Chinese individuals (450 epilepsy cases, 550 controls) examining associations between STX1B polymorphisms and epilepsy treatment response. The rs140820592 variant showed significant association with reduced epilepsy risk (OR=0.542, p=0.004) and drug-resistant epilepsy risk (OR=0.260, p=0.004), with eQTL analysis confirming rs140820592 regulates STX1B expression in brain tissues.

This comprehensive study genotyped 53 polymorphisms in three ABC transporter genes (ABCB1, ABCC2, and ABCG2) in 377 lung cancer patients (206 NSCLC and 171 SCLC) to assess their impact on chemotherapy response and survival. SNP rs717620 in ABCC2 was strongly associated with shorter progression-free survival and overall survival in SCLC patients but not NSCLC, indicating ABCC2 genetic variation is an important factor in SCLC survival following chemotherapy.

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.

A case-control study of 113 advanced non-small cell lung cancer (NSCLC) patients found that MRP2 C-24T (rs717620) and GSTP1 Ile105Val (rs1695) polymorphisms significantly predicted response to platinum-based chemotherapy. Patients carrying variant alleles (MRP2 C→T and GSTP1 A→G) showed improved treatment response, with adjusted ORs of 4.493 (P=0.002) and 2.881 (P=0.022) respectively. A DNA microarray-based genotyping method was used for SNP analysis.