A novel GPR30 rs10235056 A>G polymorphism associated with post-transcriptional regulation in lymphoblastoid cell lines.

Considering the role of variants in the 3' untranslated region (3'UTR) of GPR30 gene remains unclear, we analyzed the association between the variants at the GPR30 gene 3'UTR miRNA binding sites and their mRNA expression using the data from the HapMap online database. Nine single nucleotide polymorphisms (SNPs) in GPR30 gene 3'UTR had available minor allele frequency (MAF) values which were obtained. And the frequency distribution of all the selected GPR30 gene 3'UTR variants genotypes among the different populations and pairwise linkage disequilibrium (LD) values were calculated. In addition, correlation analysis of the selected GPR30 variants genotypes and their mRNA expression in the lymphoblastoid cell lines was performed, which showed that only rs10235056 was significantly associated with GPR30 mRNA expression (p = 0.028), but rs4266553 (p = 0.304), rs3808353 (p = 0.900), rs3808354 (p = 0.739) and rs1133043 (p = 0.913) were insignificant. Taken together, the present study provides the first evidences that the GPR30 rs10235056 A > G polymorphism could be a putative variant mediating its post-transcriptional regulation, which might support its use as markers of cancer risk and individualized treatment.