AI Article Synopsis
- The study investigates the genetic factors related to colorectal cancer, specifically examining the SLC10A2 gene and its possible links to sporadic and familial forms of the disease.
- Despite previous reports suggesting a potential association between certain SLC10A2 variants and colorectal adenoma, the research found no significant relationships with either type of colorectal cancer in their sample.
- The conclusion suggests that while SLC10A2 may play a role in the early stages of colorectal neoplasia, it is not a major risk factor for developing colorectal cancer.
Article Abstract
Background: The genetics of sporadic and non-syndromic familial colorectal cancer (CRC) is not well defined. However, genetic factors that promote the development of precursor lesions, i.e. adenomas, might also predispose to CRC. Recently, an association of colorectal adenoma with two variants (c.507C>T;p.L169L and c.511G>T;p.A171S) of the ileal sodium dependent bile acid transporter gene (SLC10A2) has been reported. Here, we reconstructed haplotypes of the SLC10A2 gene locus and tested for association with non-syndromic familial and sporadic CRC compared to 'hyper-normal' controls who displayed no colorectal polyps on screening colonoscopy.
Methods: We included 150 patients with sporadic CRC, 93 patients with familial CRC but exclusion of familial adenomatous polyposis and Lynch's syndrome, and 204 'hyper-normal' controls. Haplotype-tagging SLC10A2 gene variants were identified in the Hapmap database and genotyped using PCR-based 5' exonuclease assays with fluorescent dye-labelled probes. Haplotypes were reconstructed using the PHASE algorithm. Association testing was performed with both SNPs and reconstructed haplotypes.
Results: Minor allele frequencies of all SLC10A2 polymorphisms are within previously reported ranges, and no deviations from Hardy-Weinberg equilibrium are observed. However, we found no association with any of the SLC10A2 haplotypes with sporadic or familial CRC in our samples (all P values > 0.05).
Conclusion: Common variants of the SLC10A2 gene are not associated with sporadic or familial CRC. Hence, albeit this gene might be associated with early stages of colorectal neoplasia, it appears not to represent a major risk factor for progression to CRC.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2492852 | PMC |
| http://dx.doi.org/10.1186/1471-2350-9-70 | DOI Listing |
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