A polymorphism of matrix Gla protein gene is associated with kidney stone in the Chinese Han population |
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Authors: | Xiuli Lu Bing Gao Zehui Liu Xiurong Tian Xu Mao Newton Emmanuel Qiwen Zhu Chunling Xiao |
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Institution: | 1. School of Life Sciences, Liaoning University, Shenyang 110036, China;2. China–Japan Kidney Stone Research Center, Shenyang Medical College, 146 Huanghe North Street, Shenyang 110034, China;3. Key Laboratory of Environment and Population Health of Liaoning Education Ministry, Shenyang Medical College, 146 Huanghe North Street, Shenyang 110034, China |
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Abstract: | PurposeMatrix 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 methods728 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.ResultsWe identified 18 polymorphisms including four tag SNPs. A tag SNPrs4236 was associated with kidney stones. The G allele carrier had a 1.373-fold reduced kidney stone risk compared with A allele carriers in SNPrs4236 (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.ConclusionsOur findings showed that SNPrs4236 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. |
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Keywords: | MGP Matrix Gla protein SNPs Single nucleotide polymorphisms htSNP Haplotype tagging SNP OR Odds ratio CI Confidence interval LD Linkage disequilibrium COM Calcium oxalate monohydrate LR-PCR Long range PCR |
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