Abstract
Purpose: Colorectal cancer (CRC) is one of the common cancers with a high mortality rate worldwide. In Iran, there has been a trend of increased incidence of colorectal cancer in the last three decades that necessitates the early diagnosis. Genetic factors have an influential role in its etiology along with the conventional risk factors such as age, diet, and lifestyle.
Results from GWAS have shown significant associations between SMAD7 gene variants and risk of CRC. This study aimed to assess the association of certain polymorphisms as well as haplotypes of this gene and risk of colorectal cancer.
Methods and materials: This study was designed as a case–control association study. After obtaining ethical approval and informed consent, blood samples from 209 patients with colorectal cancer were collected and DNA was extracted. Four variants: rs4939827, rs34007497, rs8085824 and rs8088297 were genotyped using ARMS-PCR method.
Results: SMAD7 rs4939827 in the recessive and co-dominant models was associated with colorectal cancer risk [TT/CT + CC: OR = 2.90, 95%CI (1.38–6.09), p = 0.005; CC + TT/CT: OR = 1.66, 95%CI (1.00–2.75), p = 0.01]. Haplotype analysis indicated that some SNP combinations including two for-SNPs haplotypes of T-T-C-C and T-C-C-A were significantly associated with CRC risk.
Conclusion: Based on the identified association of SMAD7 gene variations and haplotypes with colorectal cancer risk in our population, genetic variations in this gene region may have a role in CRC development. This data may shed light on the genetic predisposition of CRC which involves different pathways including TGF-β.
| Original language | English |
|---|---|
| Article number | 8 |
| Number of pages | 9 |
| Journal | BMC Medical Genomics |
| Volume | 15 |
| Issue number | 1 |
| Early online date | 11 Jan 2022 |
| DOIs | |
| Publication status | Published - Dec 2022 |
Bibliographical note
Funding Information:This work was based on the Master of Science thesis of Ms. Maryam Alidoust and was financially supported by Mashhad University of Medical Sciences (Grant No: 951659).
Data Availability Statement
The datasets created during the current study are not publicly accessible due to the possibility of compromising the privacy of individuals. According to the written approval forms accepted by the Ethics Committee of the Mashhad University of Medical Sciences (MUMS), the data will only be available to researchers within project. The data would be available upon request from the corresponding authors (according to the MUMS rules and regulations).The online version contains supplementary material available at https://doi.org/10.1186/s12920-021-01150-3.
Keywords
- Association study
- Colorectal cancer
- GWAS
- Polymorphisms
- SMAD7
Access to Document
- Alidoust_etal_BMCMG_Association_of_SMAD7_VOR
This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.