Haplotype Analyses of DNA Repair Gene Polymorphisms and Their Role in Ulcerative Colitis
| العنوان: | Haplotype Analyses of DNA Repair Gene Polymorphisms and Their Role in Ulcerative Colitis |
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| المؤلفون: | Shaik Abjal Pasha, Md. Aejaz Habeeb, Pratibha Nallari, Aleem Ahmed Khan, Sandeep Kumar Vishwakarma, Shaik A. Sultana, Avinash Bardia, Yugandhar P. Reddy, Santosh K. Tiwari |
| المصدر: | PLoS ONE PLoS ONE, Vol 9, Iss 9, p e108562 (2014) |
| بيانات النشر: | Public Library of Science, 2014. |
| سنة النشر: | 2014 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, DNA Repair, Genotype, lcsh:Medicine, Biology, Inflammatory bowel disease, Gastroenterology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, XRCC3, Gene Frequency, Gene Types, Internal medicine, medicine, Genetics, Humans, Genetic Predisposition to Disease, Allele, lcsh:Science, Genotyping, Alleles, Multidisciplinary, Haplotype, lcsh:R, Biology and Life Sciences, medicine.disease, Ulcerative colitis, Genotype frequency, DNA-Binding Proteins, MutS Homolog 2 Protein, Haplotypes, Genetics of Disease, lcsh:Q, Colitis, Ulcerative, Female, Rad51 Recombinase, Polymorphism, Restriction Fragment Length, Research Article |
| الوصف: | Ulcerative colitis (UC) is a major clinical form of inflammatory bowel disease. UC is characterized by mucosal inflammation limited to the colon, always involving the rectum and a variable extent of the more proximal colon in a continuous manner. Genetic variations in DNA repair genes may influence the extent of repair functions, DNA damage, and thus the manifestations of UC. This study thus evaluated the role of polymorphisms of the genes involved in DNA repair mechanisms. A total of 171 patients and 213 controls were included. Genotyping was carried out by ARMS PCR and PCR-RFLP analyses for RAD51, XRCC3 and hMSH2 gene polymorphisms. Allelic and genotypic frequencies were computed in both control & patient groups and data was analyzed using appropriate statistical tests. The frequency of ‘A’ allele of hMSH2 in the UC group caused statistically significant increased risk for UC compared to controls (OR 1.64, 95% CI 1.16–2.31, p = 0.004). Similarly, the CT genotype of XRCC3 gene was predominant in the UC group and increased the risk for UC by 1.75 fold compared to controls (OR 1.75, 95% CI 1.15–2.67, p = 0.03), further confirming the risk of ‘T’ allele in UC. The GC genotype frequency of RAD51 gene was significantly increased (p = 0.02) in the UC group (50.3%) compared to controls (38%). The GC genotype significantly increased the risk for UC compared to GG genotype by 1.73 fold (OR 1.73, 95% CI 1.14–2.62, p = 0.02) confirming the strong association of ‘C’ allele with UC. Among the controls, the SNP loci combination of hMSH2:XRCC3 were in perfect linkage. The GTC and ACC haplotypes were found to be predominant in UC than controls with a 2.28 and 2.93 fold significant increase risk of UC. |
| اللغة: | English |
| تدمد: | 1932-6203 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2355d9b063875a5710d7ab899bbdeb9bTest http://europepmc.org/articles/PMC4172686Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....2355d9b063875a5710d7ab899bbdeb9b |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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