rs2228000

Chromosome : 3 , Position: 14158387

Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.

Reference Allele: G

Alternative Alleles: A

Associated Genes

XPC

CHCHD4

LSM3

TMEM43

SLC6A6

WNT7A

CCDC174

GRIP2

Summary

rs2228000, also known as Ala499Val and A499V, is a SNP in the DNA nuclear excision repair gene xeroderma pigmentosum complementation group C XPC gene. The Val (V) allele is encoded by the rs2228000(T) allele.

A meta-analysis of 11 studies with 5581 cancer cases and 6351 controls concluded that rs2228000(T;T) homozygotes had an increased overall cancer risk (odds ratio of 1.24, CI: 1.08-1.42) compared with (C;C) homozygotes. This was primarily a risk for bladder cancer.[PMID 18771913]

[PMID 21622940] Single Nucleotide Polymorphisms in DNA Repair Genes and Association with Breast Cancer Risk in the WEB Study

[PMID 21739480] Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis

[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

[PMID 17498315] Sequence variations in DNA repair gene XPC is associated with lung cancer risk in a Chinese population: a case-control study.

[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18544627] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.

[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.

[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.

[PMID 18711149] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.

[PMID 18854777] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.

[PMID 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.

[PMID 19270000] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.

[PMID 19706757] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.

[PMID 20141440] Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.

[PMID 21273643] In vitro functional effects of XPC gene rare variants from bladder cancer patients.

[PMID 23335232] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx

[PMID 23400628] Associations of Lys939Gln and Ala499Val polymorphisms of the XPC gene with cancer susceptibility: a meta-analysis

[PMID 24264314] Association between CCND1 and XPC polymorphisms and bladder cancer risk: a meta-analysis based on 15 case-control studies

[PMID 22902050] Using haplotype analysis to elucidate significant associations between genes and Hodgkin lymphoma.

[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.

[PMID 23436679] Xeroderma pigmentosum genes and melanoma risk.

[PMID 25759212] A distinct and replicable variant of the squamous cell carcinoma gene inositol polyphosphate-5-phosphatase modifies the susceptibility of arsenic-associated skin lesions in Bangladesh

[PMID 26339355] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma

More Information

rs2228000 may contribute to the recurrence risk of squamous cell carcinoma of the oropharynx (SCCOP) (HR = 1.6) [R].

rs2228000 (no reported alleles) had a significant effect on lung cancer survival especially in stage III-IV patients treated with platinum-based chemotherapy without surgical operation [R].

When compared to the ''GG'' genotype subjects carrying ''GA+AA'' genotypes had a 1.57-fold increased risk of lung cancer in a Chinese population [R].

The ''A'' allele had a susceptible association for Hodgkin lymphoma [R].

The ''GA'' and ''AA'' genotypes had a decreased risk of melanoma (OR= 0.15; p < 0.001) [R].

Population Alleles Frequency

ethhicity	frequency
African/African-American	0.0895
Latino/Admixed American	0.2565
Ashkenazi Jewish	0.2118
East Asian	0.3629
European	0.2485
Other (population not assigned)	0.2514

Frequently Asked Questions

Why Are Alleles for This SNP Different Elsewhere? Major vs. Reference Allele Is My Variant Good or Bad? SNP vs. Mutation

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