The XRCC1 gene encodes a DNA repair gene, and polymorphisms in DNA repair genes have been studied particularly for their relation to cancer risk.
SNPs in XRCC1 include:
- rs25489, known as Arg280His
- rs1799782, known as Arg194Trp
- rs25487, known as Gln399Arg
One particular study of salivary gland carcinomas (SGC) reports:
- The XRCC1 1915C allele was associated with a lower SGC risk, and the XRCC1 rs1799782 194Trp allele was associated with a higher SGC risk. Multivariate analysis demonstrated that individuals who had the 1915 polymorphic homozygous CC genotype (OR, 0.4, CI: 0.2-0.9, p=.017) had a significantly lower risk of SGC, and individuals who had the Arg194Trp heterozygous CT genotype (OR, 1.6, CI: 1.0-2.6, p=.059) had a higher, borderline significant risk. The CGTTGG haplotype was associated with a higher SGC risk (OR, 3.5, CI: 1.1-11.3, p=.036).[PMID 17559126]