Abstract
Genetic polymorphisms in gene encoding X-ray repair cross-complementation group 1 (MIM: 194360; XRCC1) have been defined. Previous studies have revealed that there was significant difference between populations for allelic frequency of Arg194Trp (rs. 1799782) and Arg399Gln (rs. 25487) polymorphisms of XRCC1. In order to get more insight into the genetic structure of Afghanistan populations the present study was carried out. Present study was done on 656 (257 Pashtuns, 217 Tajiks, 120 Hazaras, and 62 Uzbeks) unrelated healthy Afghanis refuges living in Fars province (southern Iran). Genotypes for Arg194Trp and Arg399Gln polymorphisms of the XRCC1 were detected by RFLP-PCR method. The prevalence of the 194Trp allele in Pashtuns, Tajiks, Hazaras, and Uzbeks was 0.072, 0.085, 0.108, and 0.145, respectively. The frequency of the 399Gln in Pashtuns, Tajiks, Hazaras, and Uzbeks was 0.362, 0.378, 0.296, and 0.234, respectively. There was significant difference between these ethnic groups for the genotypic distributions of the Arg194Trp (χ2 = 16.70, df = 6, P = 0.010) and Arg399Gln (χ2 = 12.67, df = 6, P = 0.049) polymorphisms. Based on the complete dataset, these polymorphisms showed significant linkage disequilibrium. There was significant difference between the ethnic groups for prevalence of the haplotypes (χ2 = 16.67, df = 6, P = 0.011). Uzbeks showed significant difference with the other ethnic groups (χ2 = 10.09, df = 2, P = 0.006). The allelic frequencies of 194Trp and 399Gln in Pashtuns and Tajiks seem to be more similar to the Caucasians than the Asian populations. However, Uzbeks seems to be intermediate between Afghanis’ Caucasian (Pashtuns and Tajiks) and Asians.
Similar content being viewed by others
References
Hung RJ, Hall J, Bernnan P et al (2005) Genetic polymorphisms in the base excision repair pathway and cancer risk: a huge review. Am J Epidemiol 162:925–942
Duell EJ, Wiencke JK, Cheng TJ et al (2000) Polymorphisms in the DNA repair gene XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells. Carcinogenesis 21:965–971
Moullan N, Cox DG, Angèle S et al (2003) Polymorphisms in the DNA repair gene XRCC1, breast cancer risk, and response to radiotherapy. Cancer Epidemiol Biomarkers Prev 12:1168–1174
Saadat M, Ansari-Lari M (2009) Polymorphism of XRCC1 (at codon 399) and susceptibility to breast cancer, a meta-analysis of the literatures. Breast Cancer Res Treat 115:137–144
Masoudi M, Saadat I, Omidvari S et al (2010) Additive effects of genetic variations of xenobiotic detoxification enzymes and DNA repair gene XRCC1 on the susceptibility to breast cancer. Breast Cancer Res Treat 120:263–265
Saadat M, Pakyari N, Farrashbandi H (2008) Genetic polymorphism in the DNA repair gene XRCC1 and susceptibility to schizophrenia. Psychiatry Res 157:241–245
Derakhshandeh S, Saadat I, Farrashbandi H et al (2009) Association between genetic polymorphism of XRCC1 Arg194Trp and risk of schizophrenia. Psychiatry Res 169:186
Agarwal DP, Goedde HW, Benkmann HG et al (1976) Genetic polymorphism of C3 and serum levels of immunoglobulins, C3, C4 components of complement and C3-proactivator in four different populations of Afghanistan. Hum Genet 33:67–72
Goedde HW, Flatz G, Rahimi AG et al (1977) The acetylator polymorphism in four populations of Afghanistan. Hum Hered 27:383–388
Goedde HW, Benkmann HG, Flatz G et al (1977) Red cell enzyme polymorphisms in different populations of Afghanistan. Ann Hum Biol 4:225–232
Papiha SS, Roberts DF, Rahimi AG (1977) Genetic polymorphisms in Afghanistan. Ann Hum Biol 4:233–241
Rahimi AG, Goedde HW, Flatz G et al (1977) Serum protein polymorphisms in four populations of Afghanistan. Am J Hum Genet 29:356–360
Saify K, Saadat I, Saadat M (2012) Genetic polymorphisms of glutathione S-transferase T1 (GSTT1) and M1 (GSTM1) in selected populations of Afghanistan. Mol Biol Rep 39:7855–7859
Saadat M, Kohan L, Omidvari S (2008) Genetic polymorphisms of XRCC1 (codon 399) and susceptibility to breast cancer in Iranian women, a case-control study. Breast Cancer Res Treat 111:549–553
Saify K, Saadat M (2012) Consanguineous marriages in Afghanistan. J Biosoc Sci 44:73–81
Saadat M, Tajbakhsh K (2012) Prevalence of consanguineous marriages in west and south of Afghanistan. J Biosoc Sci 15:1–7 [Epub ahead of print]
Mohamadynejad P, Saadat M (2008) Genetic polymorphisms of XRCC1 (at codons 194 and 399) in Shiraz population (Fars province, southern Iran). Mol Biol Rep 35:669–672
Ratnasinghe D, Yao SX, Tangrea JA et al (2001) Polymorphisms of the DNA repair gene XRCC1 and lung cancer risk. Cancer Epidemiol Biomarkers Prev 10:119–123
Shu XO, Cai Q, Gao YT et al (2003) A population-based case control study of the Arg399Gln polymorphism in DNA repair gene XRCC1 and risk of breast cancer. Cancer Epidemiol Biomarkers Prev 12:1462–1467
Weng Z, Lu Y, Weng H et al (2008) Effect of the XRCC1 gene-environment interactions on DNA damage in healthy Japanese workers. Environ Mol Mutagen 49:708–719
Kim SU, Park SK, Yoo KY et al (2002) XRCC1 genetic polymorphism and breast cancer risk. Pharmacogenetics 12:335–338
Sangrajrang S, Schmezer P, Burkholder I et al (2008) Polymorphisms in three base excision repair genes and breast cancer risk in Thai women. Breast Cancer Res Treat 111:279–288
Kiffmeyer WR, Langer E, Davies SM et al (2004) Genetic polymorphisms in the Hmong population: implications for cancer etiology and survival. Cancer 100:411–417
Sigurdson AJ, Land CE, Bhatti P et al (2010) Thyroid nodules, polymorphic variants in DNA repair and RETrelated genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan. Radiat Res 171:77–88
Chacko P, Rajan B, Joseph T et al (2005) Polymorphisms in DNA repair gene XRCC1 and increased genetic susceptibility to breast cancer. Breast Cancer Res Treat 89:15–21
Deligezer U, Dalay N (2004) Association of the XRCC1 gene polymorphisms with cancer risk in Turkish breast cancer patients. Exp Mol Med 36:572–575
Matullo G, Guarrera S, Sacerdote C et al (2005) Polymorphisms/haplotypes in DNA repair genes and smoking: a bladder cancer case-control study. Cancer Epidemiol Biomarkers Prev 14:2569–2578
Figueroa JD, Malats N, Real FX et al (2007) Genetic variation in the pathway and bladder cancer risk. Hum Genet 121:233–242
Varzim G, Monteiro E, Silva RA et al (2003) CYP1A1 and XRCC1 gene polymorphisms in SCC of the larynx. Eur J Cancer Prev 12:495–499
Kowalski M, Przybylowska K, Rusin P et al (2009) Genetic polymorphisms in DNA base excision repair gene XRCC1 and the risk of squamous cell carcinoma of the head and neck. J Exp Clin Cancer Res 28:37
Zienolddiny S, Campa D, Lind H et al (2006) Polymorphisms of DNA repair genes and risk of non-small cell lung cancer. Carcinogenesis 3:560–567
Forsti A, Angelini S, Festa F et al (2004) Single nucleotide polymorphisms in breast cancer. Oncol Rep 11:917–922
Gsur A, Bernhart K, Baierl A et al (2011) No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk. Cancer Epidemiol 35:e38–e41
Seedhouse C, Bainton R, Lewis M et al (2002) The genotype distribution of the XRCC1 gene indicates a role for base excision repair in the development of therapy-related acute myeloblastic leukemia. Blood 100:3761–3766
De Ruyck K, Szaumkessel M, De Rudder I et al (2007) Polymorphisms in base-excision repair and nucleotide-excision repair genes in relation to lung cancer risk. Mutat Res 631:101–110
Pachkowski BF, Winkel S, Kubota Y et al (2006) XRCC1 genotype and breast cancer: functional studies and epidemiologic data show interactions between XRCC1 codon Arg194Trp His and smoking. Cancer Res 66:2860–2868
Rossit AR, Cabral IR, Hackel C et al (2002) Polymorphisms in the DNA repair gene XRCC1 and susceptibility to alcoholic liver cirrhosis in older Southeastern Brazilians. Cancer Lett 180:173–182
Abdel-Rahman SZ, Soliman AS, Bondy ML et al (2000) Inheritance of the 194Trp and the 399Gln variant alleles of the DNA repair gene XRCC1 are associated with increased risk of early-onset colorectal carcinoma in Egypt. Cancer Lett 159:79–86
Rafiee L, Saadat M (2011) Prevalence of consanguineous marriages among Iranian Georgians. J Biosoc Sci 43:47–50
Rafiee L, Saadat I, Saadat M (2010) Glutathione S-transferase genetic polymorphisms (GSTM1, GSTT1 and GSTO2) in three Iranian populations. Mol Biol Rep 37:155–158
Saadat M, Saadat I (2012) Prevalence of G6721T polymorphism of XRCC7 in an Iranian population. EXCLI J 11:93–97
Acknowledgments
The authors are indebted to the participants for their close cooperation. This study was supported by Shiraz University.
Disclosure
No competing financial interests exist.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Saify, K., Saadat, I. & Saadat, M. First survey of the two polymorphisms (Arg194Trp and Arg399Gln) in XRCC1 gene in four Afghanistan populations and comparison with worldwide data. Mol Biol Rep 40, 5281–5284 (2013). https://doi.org/10.1007/s11033-013-2628-x
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11033-013-2628-x