rs3547

This variant is located in the XRCC1 gene.

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ClinVar annotation

Benign★★★☆
2 submitters1 publication

Spinocerebellar ataxia, autosomal recessive 26; not provided

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Research that mentions this SNP (1)

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Association of 12 polymorphic variants conferring genetic risk to lung cancer in Indian population: An extensive meta‐analysis
Meta-analysisN=19,556Debmalya Sengupta et al.(2017)· Environmental and Molecular Mutagenesis

A comprehensive meta-analysis of 50 case-control studies from the Indian subcontinent identified genetic variants modifying lung cancer risk, finding FDR-corrected associations for rs3547/XRCC1 (OR=1.83-2.72) and rs1048943/CYP1A1 (OR=2.07). The rs1048943/CYP1A1 variant showed strongest associations with adenocarcinoma (OR=3.38) and squamous cell carcinoma (OR=3.53) with significant effect modification by smoking status. Global meta-analysis confirmed rs1048943/CYP1A1 association across world populations (OR=1.22, p=0.01).

Traits studied:Lung adenocarcinomaLung cancerSmall cell lung carcinomaSquamous cell carcinoma
PubMedDOIMetascience Observatory

About XRCC1

The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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