Quantitative assessment of the association between L769L and S836S polymorphisms at RET gene and medullary thyroid carcinoma risk

Abstract

RET single nucleotide polymorphisms (SNPs) have been implicated in the pathogenesis and progression of medullary thyroid carcinoma (MTC). Epidemiologic studies have evaluated the association between RET L769L and S836S polymorphisms and predisposition to MTC. However, the results were inconclusive. A literature search was performed using the PubMed database for relevant studies published through October 31, 2013. A total of 13 eligible studies were selected for this meta-analysis, including 1,117 cases and 1,916 controls for L769L and 1,230 cases and 2,246 controls for S836S. The carrier frequency of the variant alleles was 26.3 % in patients with MTC and 24.6 % in controls for L769L polymorphism, and 6.6 % in patients with MTC and 5.0 % in controls for S836S polymorphism. In our pooled analysis of all these studies, the results of our meta-analysis suggested that the RET L769L variant was not significantly associated with an elevated MTC risk (odds ratio (OR) 1.06, 95 % confidence interval (CI) 0.94-1.19). And there was no evidence for the association between the S836S variant and MTC risk (OR 1.20, 95 % CI 0.97-1.49). Moreover, no significant differences were found when considering patients or controls heterozygous or homozygous for RET L769L and S836S polymorphisms. In conclusion, this meta-analysis suggests that RET L769L and S836S polymorphisms may not be associated with MTC development.