In:
Molecular Genetics & Genomic Medicine, Wiley, Vol. 6, No. 4 ( 2018-07), p. 533-540
Abstract:
DNA repair genes are crucial for maintaining genomic stability by preventing mutagenesis and carcinogenesis. The present retrospective cohort study aimed at investigating whether MLH 1 , APEX 1 , MUTYH , OGG 1 , NUDT 1 , XRCC 5, XPA , and ERCC 2 single nucleotide polymorphisms ( SNP s) are associated with colorectal cancer ( CRC ) in Chinese population with Lynch syndrome. Methods From Amsterdam criteria family registry, we identified 270 patients with Lynch syndrome. Hazard ratios ( HR s) and 95% confidence intervals ( CI s) for the association between DNA repair SNP s and CRC were calculated using a weighted Cox proportional hazard regression model. Results Heterozygous variants of rs1799832 in NUDT 1 ( HR = 2.97, 95% CI = 1.51–5.83) and rs13181 in ERCC 2 ( HR = 2.69, 95% CI = 1.10–6.55) were significantly associated with an increased risk of CRC compared with wild‐type homozygous CC and TT genotypes, respectively. However, the variant CG + GG genotype of MUTYH rs3219489 was associated with a decreased risk of CRC ( HR = 0.49, 95% CI = 0.26–0.91) compared with the homozygous CC wild‐type counterparts. Conclusion Our findings revealed that polymorphisms of DNA repair genes that include NUDT 1 , ERCC 2, and MUTYH are associated with CRC in patients with Lynch syndrome in Chinese population. Further studies with large sample size are needed to confirm our findings.
Type of Medium:
Online Resource
ISSN:
2324-9269
,
2324-9269
DOI:
10.1002/mgg3.2018.6.issue-4
Language:
English
Publisher:
Wiley
Publication Date:
2018
detail.hit.zdb_id:
2734884-2
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