A polymorphism of matrix Gla protein gene is associated with kidney stone in the Chinese Han population

Purpose: Matrix Gla protein (MGP) is a molecular determinant regulating the extracellular matrix calcification. To further confirm whether the MGP genetic polymorphism was universally associated with the risk of kidney stone, we investigated the association of genetic polymorphisms of MGP with kidney stone in the Chinese Han population. Materials and methods: 728 subjects were recruited for the study. We firstly re-sequenced the human genomic MGP gene including the 1500 bp promoter, 5'-UTR, 4 exons and 3'-untranslated regions, identified single nucleotide polymorphisms (SNPs) in MGP, and performed an association analysis with kidney stones in 54 subjects of the Chinese Han population. A candidate tag SNP was genotyped in total subjects using an allele specific PCR, and further analyzed the association with kidney stone. Results: We identified 18 polymorphisms including four tag SNPs. A tag SNPr54236 was associated with kidney stones. The G allele carrier had a 1.373-fold reduced kidney stone risk compared with A allele carriers in SNPr54236 (odds ratios (OR) = 1.373; 95%CI, 1.051-1.793; p = 0.019). However, we did not find an association between the polymorphism and clinical characteristics of kidney stones. Conclusions: Our findings showed that SNPr54236 of the MGP gene is associated with kidney stones in the Chinese Han population, and influences the genetic susceptibility to kidney stones. In the future, functional assays of the polymorphism should permit a better understanding of the role of MGP genetic variants and kidney stones. (C) 2012 Elsevier B.V. All rights reserved.