Common variants of xeroderma pigmentosum genes and prostate cancer risk |
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| Authors: | Aneta Mirecka,Katarzyna Paszkowska-Szczur,Rodney J. Scott,Bohdan Gó rski,Thierry van de Wetering,Dominika Wokołorczyk,Tomasz Gromowski,Pablo Serrano-Fernandez,Cezary Cybulski,Aniruddh Kashyap,Satish Gupta,Adam Gołąb,Marcin Słojewski,Andrzej Sikorski,Jan Lubiński,Tadeusz Dębniak |
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| Affiliation: | 1. Department of Genetics and Pathology, Pomeranian Medical University, Poland;2. School of Biomedical Sciences, University of Newcastle, Australia;3. Postgraduate School of Molecular Medicine, Warsaw Medical University, Poland;4. Department of Urology, Pomeranian Medical University, Poland |
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| Abstract: | The genetic basis of prostate cancer (PC) is complex and appears to involve multiple susceptibility genes. A number of studies have evaluated a possible correlation between several NER gene polymorphisms and PC risk, but most of them evaluated only single SNPs among XP genes and the results remain inconsistent. Out of 94 SNPs located in seven XP genes (XPA–XPG) a total of 15 SNPs were assayed in 720 unselected patients with PC and compared to 1121 healthy adults. An increased risk of disease was associated with the XPD SNP, rs1799793 (Asp312Asn) AG genotype (OR = 2.60; p < 0.001) and with the AA genotype (OR = 531; p < 0.0001) compared to the control population. Haplotype analysis of XPD revealed one protective haplotype and four associated with an increased disease risk, which showed that the A allele (XPD rs1799793) appeared to drive the main effect on promoting prostate cancer risk. Polymorphism in XPD gene appears to be associated with the risk of prostate cancer. |
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| Keywords: | PC, prostate cancer XP genes, xeroderma pigmentosum GWAS, genome wide association studies SNP, single nucleotide polymorphism OR, odds ratio CI, confidence interval HWE, Hardy&ndash Weinberg equilibrium DRE, digital rectal examination |
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