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Genetic polymorphisms of three DNArepair genes (PRKDC, XPD, XRCC1) are related to colorectal cancer susceptibility

Atieh Hashemi, Fahimeh Baghbaniarani, Mona Sadat Larijani


Although the specific causes of colorectal cancer (CRC) are not known, a robust DNA repair capacity may decrease the risk of this malignancy. DNA repair capacity may be reduced by alterations of genes involved in DNA repair process. This may affect susceptibility to carcinogenesis. It is hypothesized that single nucleotide polymorphisms (SNPs) of several DNA repair genes may be a risk factor for CRC susceptibility and prognosis. Using PCRRFLP method, we conducted a casecontrol study to genotype 291 patients with CRC and 140 healthy individuals to determine variants in the PRKDC, XPD and XRCC1 genes. Results showed that the genotypes of XRCC1 c.580C>T polymorphism were associated with the risk of CRC. Compared with CC, CT (odds ratio (OR) = 5.35, P < 0.001) and CT/TT (OR = 4.74, P < 0.001) as well as T allele (OR = 4.95, P < 0.001) were overrepresented among the CRC patients. Variant genotype CC (OR = 2.37; P = 0.042) and C allele of XPD c.2251A>C (OR = 1.37; P =0.028) polymorphism, enhanced the risk of CRC cases. Compared with GG, positive association was also obtained for all genotypes (GT, TT, GT/TT) of PRKDC rs7003908; 6721G>T polymorphism with CRC. Moreover, T allele of PRKDC demonstrated significant risk for CRC (OR = 5.61; P < 0.001). Besides, significant relevance of the PRKDC rs7003908; 6721G>T variations to smoking as well as XPD c.2251A>C variations to smoking and alcohol consumption in individuals with CRC was observed. Our findings indicated that genetic polymorphisms of PRKDC, XRCC1, XPD genes may influence susceptibility of CRC in the Iranian population.

Key words: PRKDC, XPD, XRCC1, colorectal cancer, polymorphisms, cancer susceptibility

Tsitologiya i Genetika 2020, vol. 54, no. 4, pp. 90-92

  1. Department of Pharmaceutical Biotechnology, School of Pharmacy, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  2. Department of Genetics & Biotechnology, School of Biological Science, Varamin-Pishva Branch, Islamic Azad University, Varamin, Iran
  3. Department of Hepatitis and AIDS, Pasteur Institute of Iran, Tehran, Iran

E-mail: fbaghbani

Atieh Hashemi, Fahimeh Baghbaniarani, Mona Sadat Larijani Genetic polymorphisms of three DNArepair genes (PRKDC, XPD, XRCC1) are related to colorectal cancer susceptibility, Tsitol Genet., 2020, vol. 54, no. 4, pp. 90-92.

In "Cytology and Genetics":
Atieh Hashemi, Fahimeh Baghbani-arani & Mona Sadat Larijani Genetic Polymorphisms of Three DNA-Repair Genes (PRKDC, XPD, XRCC1) are Related to Colorectal Cancer Susceptibility, Cytol Genet., 2020, vol. 54, no. 4, pp. 363371
DOI: 10.3103/S0095452720040040


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