Impact of a Missense Variation (p.S150R:AGCAGG) in the XRCC2 Gene on Susceptibility to Colorectal Cancer
| Autor: | Behta Keshavarz-Pakseresht, Seyed Ataollah Sadat-Shandiz, Shaghayegh Derakhshani, Ali Nasri-Nasrabadi, Fahimeh Baghbani-Arani, Atefeh Shirkavand, Mona Sadat-Larijani |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Male Genotype Colorectal cancer Mutation Missense Biology Iran Polymorphism Single Nucleotide General Biochemistry Genetics and Molecular Biology XRCC2 03 medical and health sciences Gene Frequency Polymorphism (computer science) Risk Factors medicine Missense mutation Humans Genetic Predisposition to Disease Allele Allele frequency Alleles Aged Cancer Middle Aged medicine.disease DNA-Binding Proteins 030104 developmental biology Cancer research Female Colorectal Neoplasms |
| Zdroj: | Clinical laboratory. 64(3) |
| ISSN: | 1433-6510 |
| Popis: | Background The X-ray repair complementing defective repair in Chinese hamster cells 2 (XRCC2) is an important protein in response to DNA double-strand breaks (DSBs) in human cells. XRCC2, as a functional protein in the homologous recombination repair (HRR) process, has been identified to have several polymorphisms which might be associated with the risk of cancer. Therefore, we aimed to investigate a novel missense variation (AGC>AGG, p.Ser150Arg) in the XRCC2 gene for colorectal cancer susceptibility. Methods We studied 291 colorectal cancer (CRC) patients and 140 healthy individuals. ARMS PCR method was used to detect the AGC>AGG (p.Ser150Arg) variation in the XRCC2 gene. Results The results showed that there was a significant differential among CRC and controls in the genotypic and allelic frequencies (p AGG, p.Ser150Arg. Our results demonstrated that the G allele of XRCC2; AGC>AGG, p.Ser150Arg was associated with increased CRC risk (odds ratio = 59.04, 95% confidence interval = 18.6 - 186). This variation also influenced CRC cancer susceptibility in smokers (p Conclusions The G allele of XRCC2; AGC>AGG, p.Ser150Arg, may be a potential marker for CRC in Iranians and investigations in other populations are warranted for further universal application in CRC detection and prediction. |
| Databáze: | OpenAIRE |
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