Abstract
BackgroundAs a mismatch repair (MMR) gene, hMLH1 plays an important role in the maintenance of chromosomal integrity. Several studies have investigated the associations of hMLH1 -93G>A (rs1800734) and Ile219Val (rs1799977) in diverse tumor types with discordant results, but their roles in ovarian cancer in the Chinese population remains to be elucidated.MethodsIn a case-control analysis, we assessed the association between these two polymorphisms and ovarian cancer risk in 421 ovarian cancer patients and 689 control subjects in the Chinese population using logistic regression.ResultsWe found that the variant hMLH1 genotypes (-93AA and AG) are associated with risk of ovarian cancer (adjusted odds ratio [OR] = 2.02, 95% confidence interval [CI] = 1.42–2.89) compared with the -93GG genotype. The A allele increases the risk of ovarian cancer in a dose-dependent manner (P<10−4). Functional test showed that -93A allele increased hMLH1 promoter transcriptional activity and the luciferase activity. However, no significant difference was found in the genotype frequencies at the Ile219Val site between the cases and controls.ConclusionsThese findings indicate that the -93G>A polymorphism in hMLH1 may affect ovarian cancer susceptibility in the Chinese population.
Highlights
Ovarian cancer is one of the most common types of gynecological malignancies [1]
We found that the variant hMLH1 genotypes (-93AA and AG) are associated with risk of ovarian cancer compared with the -93GG genotype
These findings indicate that the -93G>A polymorphism in hMLH1 may affect ovarian cancer susceptibility in the Chinese population
Summary
Ovarian cancer is one of the most common types of gynecological malignancies [1]. Globally, as of 2010, approximately 160,000 people had died from ovarian cancer, up from 113,000 in PLOS ONE | DOI:10.1371/journal.pone.0135822 August 14, 2015hMLH1 Polymorphism and Ovarian Cancer1990 [2]. Ovarian cancer is one of the most common types of gynecological malignancies [1]. Because a standard therapy exists but does not obtain ideal outcomes, ovarian cancer remains a therapeutic challenge. Recent studies indicate that there is significant difference in the clinical outcomes of radical operation and adjuvant platinum-based chemotherapy for individuals with different genetic polymorphisms, suggesting that genetic susceptibility plays an important role in an individual’s risk of developing ovarian cancer [5, 6]. Several studies have investigated the associations of hMLH1 -93G>A (rs1800734) and Ile219Val (rs1799977) in diverse tumor types with discordant results, but their roles in ovarian cancer in the Chinese population remains to be elucidated.
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