rs1130409

Population-based case-control study of 601 Connecticut women with non-Hodgkin lymphoma (NHL) and frequency-matched controls examining interactions between DNA repair gene polymorphisms and body mass index. Suggestive gene-BMI interactions were observed for BRCA1 rs799917 (OR=1.7), XRCC1 rs1799782 (OR=1.5), ERCC2 rs13181 (OR=2.0), and other DNA repair genes in modifying NHL risk. After multiple testing correction, significant interactions remained for WRN rs1801195 with T-cell lymphoma (P=0.004) and ERCC2 rs13181 with diffuse large B-cell lymphoma (P=0.002).

This study examined PAH-related DNA adduct levels in 111 female never-smokers from Iran, evaluating 21 SNPs in 14 xenobiotic metabolism genes and 12 SNPs in 8 DNA repair genes. DNA adduct levels were significantly lower with NAT2 slow alleles (β=-0.24, p=0.01) and ERCC5 non-risk genotype (β=0.16, p=0.04), but higher with MPO risk alleles (β=0.21, p=0.01). The combination of phase I genes and measured NER capacity explained 17% more variation in adduct levels than environmental exposure alone (r²=0.24 vs 0.07), demonstrating the importance of genetic polymorphisms in PAH metabolism and DNA repair capacity.

This review examines the role of oxidative DNA damage and its repair via base excision repair (BER) glycosylases (hOGG1, MUTYH, NEIL1-3, NTH1) in sporadic colorectal cancer (CRC) pathogenesis, prognosis, and treatment. The authors discuss hereditary syndromes (MUTYH-associated polyposis, NTHL1-associated tumor syndrome) that provide direct evidence linking oxidative DNA damage to CRC, and review conflicting evidence on common variants such as hOGG1 Ser326Cys and MUTYH polymorphisms in sporadic CRC risk. They also address the contribution of intestinal dysbiosis to oxidative damage and potential therapeutic strategies targeting DNA repair pathways.

This dissertation investigated sex differences in melanoma using Connecticut Tumor Registry and Minnesota Skin Health study cohorts. Multiple SNPs in DNA repair genes (RFC1, ERCC4, ERCC5, ERCC6, PARP1, FBRSL1) and immune response genes (SMAD3, CXCL8, IFNγ, IL-17A) were associated with Breslow thickness and interacted with UV exposure to modify melanoma progression. Notably, rs4253114 (ERCC6) was the only SNP significant in both male and female sex-stratified analyses. UV exposure showed opposite effects between sexes: inversely associated with male mortality (HR 0.5-0.9 range) but not associated with female survival; skin awareness reduced Breslow thickness in females but not males.

Case-control study of 612 RCC patients and 632 controls in a Chinese population found that the APE1 1349 T>G polymorphism (rs1130409) GG genotype was associated with significantly increased renal cell carcinoma risk (adjusted OR = 1.47, 95% CI = 1.10-1.95). The -656 T>G polymorphism (rs1760944) showed no significant association, but individuals homozygous for both risk alleles had a 2.17-fold increased RCC risk.