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Haplotype analysis of XRCC1 (at codons 194 and 399) and breast cancer risk, a case–control study

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Abstract

DNA in most cells is regularly damaged by endogenous and exogenous mutagens. Among DNA repair systems, the base excision repair pathway is responsible for the repair of oxidative DNA damage and single-strand breaks. The X-ray repair cross-complementation group 1 (XRCC1) protein plays an important role in base excision repair. Several polymorphisms in the XRCC1 gene have been described, including Arg194Trp (db SNP rs. 1799782). Since it has been suggested that the XRCC1 codon 194 polymorphism might be associated with significant alterations in the DNA repair capacity, the present study was undertaken. Blood samples from 186 females with breast cancer and 187 age- and sex-matched healthy individuals were collected. The genotypes were determined using a polymerase chain reaction-restriction fragment length polymorphism method. Allele frequency of 194Trp was low in both cancer patients and controls (0.0968 and 0.0802, respectively) and exhibited a similar distribution within both groups (odd ratio = 1.22, 95% confidence interval: 0.74–2.04, P = 0.426). The association between Arg194Trp polymorphism and breast cancer risk was not significant neither in Trp/Trp (P = 1.0) nor Arg/Trp (P = 0.273) genotypes compared with the Arg/Arg genotype. The close physical proximity of the polymorphisms at codons 194 and 399 of XRCC1 place them in linkage disequilibrium (patients: D′ = 0.8386, P < 0.001; controls: D′ = 1.0, P < 0.001). However, no significant difference between frequencies of the four types of haplotypes among cases and controls (P > 0.05) was noted.

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Acknowledgements

The authors are indebted to the participants for their close cooperation. The authors are indebted to Dr. Maryam Ansari-Lari for critical reading of the manuscript and for her contribution in discussion. This study was supported by Shiraz University.

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Authors and Affiliations

  1. Department of Biology, College of Sciences, Shiraz University, Shiraz, 71454, Iran

    Mostafa Saadat, Leila Kohan & Iraj Saadat

  2. Institute of Biotechnology, Shiraz University, Shiraz, Iran

    Mostafa Saadat & Iraj Saadat

  3. Department of Chemotherapy, Shiraz University of Medical Sciences, Shiraz, Iran

    Shahpour Omidvari

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  1. Mostafa Saadat
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  2. Leila Kohan
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  3. Iraj Saadat
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  4. Shahpour Omidvari
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Correspondence to Mostafa Saadat.

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Saadat, M., Kohan, L., Saadat, I. et al. Haplotype analysis of XRCC1 (at codons 194 and 399) and breast cancer risk, a case–control study. Comp Clin Pathol 19, 345–349 (2010). https://doi.org/10.1007/s00580-009-0875-y

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  • DOI: https://doi.org/10.1007/s00580-009-0875-y

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