Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comparative Study
. 2008 Feb;134(2):263-70.
doi: 10.1007/s00432-007-0283-0. Epub 2007 Jul 26.

Polymorphisms of the DNA repair gene xeroderma pigmentosum groups A and C and risk of esophageal squamous cell carcinoma in a population of high incidence region of North China

Wei Guo  1 , Rong Miao Zhou, Ling Ling Wan, Na Wang, Yan Li, Xiao Juan Zhang, Xiu Juan Dong
Affiliations
Comparative Study

Polymorphisms of the DNA repair gene xeroderma pigmentosum groups A and C and risk of esophageal squamous cell carcinoma in a population of high incidence region of North China

Wei Guo et al. J Cancer Res Clin Oncol. 2008 Feb.

Abstract

Aim: Inherited polymorphisms of DNA repair genes may contribute to variations in DNA repair capacity (DRC) and genetic susceptibility to different cancers. The aim of this study was to determine whether single nucleotide polymorphisms (SNPs) of xeroderma pigmentosum group A (XPA) and XPC can influence the risk of esophageal squamous cell carcinoma (ESCC).

Methods: In this report, one SNP of XPA and three SNPs of XPC were genotyped by polymerase-chain reaction (PCR) and PCR-restriction fragment length polymorphism (PCR-RFLP) assay in 327 ESCC patients and 612 healthy controls in a high incidence region of North China.

Results: Family history of upper gastrointestinal cancers (UGIC) may increase the risk of developing ESCC. The overall genotype and allelotype distributions of XPA A23G in ESCC patients were significantly different from that in healthy controls (P < 0.05). The A/G + G/G genotype significantly decreased the risk of developing ESCC compared with A/A genotype. When stratified for family history of UGIC, compared with A/A genotype, A/G + G/G genotype significantly decreased the risk of ESCC in groups with negative history of UGIC. The overall genotype and allelotype distributions of XPC intron 9 PAT(+/-) and exon 15 Lys939Gln and exon 8 Val499Ala in ESCC patients were not significantly different from that in healthy controls (P > 0.05). When stratified for smoking status and UGIC family history, compared with A/A genotype, C/C genotype of exon 15 Lys939Gln significantly increased the risk of developing ESCC in non-smoker group.

Conclusions: We concluded that XPA23 polymorphism may be useful markers for identifying individuals at risk of developing ESCC. C/C genotype of XPC exon 15 may be one of the factors that affect the risk of developing ESCC in nonsmoking population in the high incidence region of China.

PubMed Disclaimer

Figures

Fig. 1
Fig. 1
XPA A23G genotype 1: G/G genotype; 2,5:A/A genotype; 3,4,6,7: A/G genotype; 8: negative control; 9: 100 bp DNA marker
Fig. 2
Fig. 2
XPC PAT+/− genotype 1,3,6: +/− genotype; 2:+/+ genotype; 4,5: −/− genotype; 7: negative control; 8: 100 bp DNA marker
Fig. 3
Fig. 3
XPC Ala499Val genotype 1: 100 bp DNA marker; 2,4,8: T/T genotype; 3,6,9,10,11: C/C genotype; 5,7,12: C/T genotype
Fig. 4
Fig. 4
XPC Lys939Gln genotype 1:100 bp DNA marker; 2,8: A/C genotype; 3,4,10: C/C genotype; 5,6,7,9: A/A genotype
See this image and copyright information in PMC

References

    1. Batty DP, Wood RD (2000) Damage recognition in nucleotide excision repair of DNA. Gene 241:193–204 - PubMed
    1. Bonn D (1998) How DNA-repair pathways may affect cancer risk. Lancet 351:42 - PubMed
    1. Butkiewicz D, Rusin M, Enewold L, Shields PG, Chorazy M, Harris CC (2001) Genetic polymorphisms in DNA repair genes and risk of lung cancer. Carcinogenesis 22:593–597 - PubMed
    1. Butkiewicz D, Rusin M, Harris CC, Chorazy M (2000) Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population. Hum Mutat 15:577–578 - PubMed
    1. Casson AG, Zheng Z, Evans SC, Veugelers PJ, Porter GA, Guernsey DL (2005) Polymorphisms in DNA repair genes in the molecular pathogenesis of esophageal (Barrett) adenocarcinoma. Carcinogenesis 26:1536–1541 - PubMed

Publication types