Study on genetic polymorphism of human mismatch repair gene hMLH1 and susceptibility of papillary thyroid carcinoma in Chinese Han people / 中华预防医学杂志

<p><b>OBJECTIVE</b>To explore the associations between the single nucleotide polymorphism of human mismatch repair gene hMLH1 and the papillary thyroid carcinoma (PTC) in Chinese Han people.</p><p><b>METHODS</b>A hospital based 1:1 matched case-control study was carried out. The single nucleotide polymorphism (-93G > A, 1151T > A and 655A > G) for 204 pairs of cases with PTC as well as healthy controls was identified by PCR-RFLP, PCR-ASO and DNA sequencing.</p><p><b>RESULTS</b>With univariate analysis, we found that compared to 1151TT genotype, the TA genotype could increase the PTC risk marginally, with odds ratio (OR) of 2.15 (95%CI: 0.99 - 4.85); While the mutant genotype TA + AA could increase the PTC risk statistically significant, with OR of 2.15(95%CI: 1.02 - 4.69). With 2 x 4 cross-over study, we found that compared to -93GG and 1151TT genotypes, individuals with both -93GA + AA and 1151TA + AA could increase the PTC risk marginally, with OR of 2.50 (95%CI: 0.96 - 6.67); While, compared to 655AA and 1151TT genotypes, individuals with both 655AA and 1151TA + AA could increase the PTC risk statistically significant, with OR of 2.50 (95%CI: 1.02 - 4.73). Multivariate and conditional logistic regression analysis showed the genotype of 1151TA, the history of receiving CT diagnosis, the history of tumor, the negative life events and eating seafood frequently could increase the risk of PTC, with OR of 6.79 (95%CI: 3.18 - 14.49), 3.35 (95%CI: 1.93 - 5.80), 39.03 (95%CI: 3.70 - 41.60) and 3.98 (95%CI: 1.81 - 8.73); While, eating fruit frequently could decrease the PTC risk.</p><p><b>CONCLUSION</b>The 1151TA + AA genotype, the history of receiving CT diagnosis, the history of tumor, the negative life events and eating seafood frequently were the risk factors of PTC, while eating fruit frequently was the protective factor.</p>

Association of genetic polymorphisms and haplotypes in hMLH1 and hMSH3 gene with the risk of papillary thyroid carcinoma / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the relationship of the genetic polymorphisms and the haplotypes in hMLH1 and hMSH3 gene with the risk of papillary thyroid carcinoma (PTC) in Chinese Hans.</p><p><b>METHODS</b>A hospital based 1:1 matched case-control study was carried out. The polymorphisms for 204 pairs of PTC cases and healthy controls were identified by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and allele specific oligonucleotide (PCR-ASO) assays.</p><p><b>RESULTS</b>(1) The PTC risk was marginally increased in the hMLH1 1151TA genotype, with odds ratio (OR) of 2.15 (95%CI: 0.99-4.85); the PTC risk was significantly increased in the mutant genotype 1151TA+AA, with OR of 2.15 (95%CI: 1.02-4.69); (2) The haplotypes of -93G, 1151A, 655A in the hMLH1 gene could increase the PTC risk, with OR of 2.67 (95%CI: 1.16-6.53, P=0.011), compared with the haplotype of -93G, 1151T, 655A; (3) Compared to 3124A, 2835G haplotype in hMSH3 gene, the 3124G, 2835A haplotype could increase the PTC risk marginally, with OR of 3.08 (95%CI: 0.92-13.25).</p><p><b>CONCLUSION</b>The 1151T/A polymorphism in hMLH1 was associated with PTC; both the haplotype of -93G, 1151A, 655A in hMLH1 and the 3124G, 2835A haplotype in hMSH3 were associated with PTC.</p>