rs1760944
This is a regulatory region variant variant in the APEX1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (3)
▶Estrogen receptors alpha (rs2234693 and rs9340799), and beta (rs4986938 and rs1256049) genes polymorphism in prostate cancer: Evidence for association with risk and histopathological tumor characteristics in Iranian menMeta-analysisN=69,809Mohammad Reza Safarinejad et al.(2012)· Molecular Carcinogenesis
A meta-analysis of 80 studies (69 publications) with 26,428 cancer cases and 43,381 controls evaluating the ESR1 PvuII rs2234693 T>C polymorphism and cancer susceptibility. Overall, the T allele showed modest decreased cancer risk (OR=0.95, 95% CI=0.91-0.99), with stronger associations for specific cancer types: prostate cancer (TT vs. CC: OR=0.79), leiomyoma (T vs. C: OR=0.82), and hepatocellular carcinoma (TT vs. CC: OR=0.45). The authors conclude that ESR1 PvuII polymorphism has minimal impact on overall cancer susceptibility.
▶Genetic polymorphisms in APE1 are associated with renal cell carcinoma risk in a Chinese populationAssociationN=1,244Qiang Cao et al.(2011)· Molecular Carcinogenesis
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.
▶Genetic variation in the base excision repair pathway and bladder cancer riskAssociationN=2,299Jonine D. Figueroa et al.(2007)· Human Genetics
Case-control study of 1,150 bladder cancer cases and 1,149 controls analyzing 43 SNPs in 12 base excision repair (BER) genes. Significant associations with bladder cancer risk were found for OGG1 rs125701 (OR=0.78, 95% CI 0.63-0.96, decreased risk), PARP1 rs1136410/V762A (OR=1.24, 95% CI 1.02-1.51, increased risk), and POLB rs3136717 (OR=1.30, 95% CI 1.04-1.62, increased risk). Meta-analysis of XRCC1 rs25487 (Q399R) across 7 studies showed no overall association with bladder cancer risk.
About APEX1
The APEX gene encodes the major AP endonuclease in human cells. It encodes the APEX endonuclease, a DNA repair enzyme with apurinic/apyrimidinic (AP) activity. Such AP activity sites occur frequently in DNA molecules by spontaneous hydrolysis, by DNA damaging agents or by DNA glycosylases that remove specific abnormal bases. The AP sites are the most frequent pre-mutagenic lesions that can prevent normal DNA replication. Splice variants have been found for this gene; all encode the same protein. Disruptions in the biological functions related to APEX are associated with many various malignancies and neurodegenerative diseases.[provided by RefSeq, Dec 2019]
View all APEX1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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