XRCC1
From SNPedia
is a | gene |
is | mentioned by |
EntrezGene | 7515 |
PheGenI | 7515 |
VariationViewer | 7515 |
ClinVar | XRCC1 |
GeneCards | XRCC1 |
dbSNP | 7515 |
Diseases | XRCC1 |
SADR | 7515 |
HugeNav | 7515 |
wikipedia | XRCC1 |
XRCC1 | |
gopubmed | XRCC1 |
EVS | XRCC1 |
HEFalMp | XRCC1 |
MyGene2 | XRCC1 |
23andMe | XRCC1 |
# SNPs | 14 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
rs12611088 | 0 | 43,568,650 | |
rs1799782 | 1.4 | 43,553,422 | |
rs2307166 | 0 | 43,544,178 | |
rs25486 | 0 | 43,551,746 | |
rs25487 | 2 | 43,551,574 | |
rs25489 | 0 | 43,552,260 | |
rs2682585 | 0 | 43,577,136 | |
rs2854501 | 0 | 43,555,849 | |
rs2854509 | 0 | 43,570,445 | |
rs3213245 | 0 | 43,575,535 | |
rs3213255 | 0 | 43,573,355 | |
rs3213337 | 0 | 43,557,785 | |
rs761564262 | 0 | 43,546,884 | |
rs915927 | 0 | 43,553,075 |
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]