Intronic polymorphisms of the SMAD7 gene in association with colorectal cancer
| Autor: | Saman Milanizadeh, Nastaran Saeedi, Shaghayegh Derakhshani, Behzad Damavand, Seyed Reza Mohebbi, Mohammad Reza Zali, Hamid Asadzadeh Aghdaie, Pedram Azimzadeh |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Oncology
Male Cancer Research medicine.medical_specialty Genotype Epidemiology Population Single-nucleotide polymorphism Genome-wide association study Biology Iran Bioinformatics Polymorphism Single Nucleotide Smad7 Protein Sex Factors Asian People Internal medicine medicine Humans Genetic Predisposition to Disease Risk factor education Genetic association education.field_of_study Public Health Environmental and Occupational Health Case-control study Odds ratio Case-Control Studies Female Colorectal Neoplasms Polymorphism Restriction Fragment Length Genome-Wide Association Study |
| Zdroj: | Asian Pacific journal of cancer prevention : APJCP. 16(1) |
| ISSN: | 2476-762X 1295-3717 |
| Popis: | Based on genome-wide association studies (GWAS) a linkage between several variants such as single nucleotide polymorphisms (SNPs) in intron 3 of SMAD7 (mothers against decapentaplegic homolog7) were, rs12953717, rs4464148 and rs4939827 has been noted for susceptibility to colorectal cancer (CRC). In this study we investigated the relationship of rs12953717 and rs4464148 with risk of CRC among 487 Iranian individuals based on a case- control study. Genotyping of SNPs was performed by PCR-RFLP and for confirming the outcomes, 10% of genotyping cases were sequenced with RFLP. Comparing the case and control group, we have found significant association between the rs4464148 SNP and lower risk of CRC. The AG genotype showed decreased risk with and odds ratio of 0.635 (adjusted OR=0.635, 95% CI: 0.417-0.967, p=0.034). There was no significant difference in the distribution of SMAD7 gene rs12953717 TT genotype between two groups of the population evaluated (adjusted OR=1.604, 95% CI: 0.978-2.633, p=0.061). On the other hand, rs12953717 T allele showed a statistically significant association with CRC risk (adjusted OR=1.339, 95% CI: 1.017-1.764, p=0.037). In conclusion, we found a significant association between CRC risk and the rs4464148 AG genotype. Furthermore, the rs12953717 T allele may act as a risk factor. This association may be caused by alternative splicing of pre mRNA. Although we observed a strong association with rs4464148 GG genotype in affected women, we did not detect the same association in CRC male patients. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|