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Association between calcium-sensing receptor (CaSR) R990G, CaSR A986S, and CaSR Q1011E gene polymorphisms and the risk of urolithiasis: a meta-analysis
Egyptian Journal of Medical Human Genetics ( IF 1.2 ) Pub Date : 2019-12-31 , DOI: 10.1186/s43042-019-0045-y
Besut Daryanto , Basuki Bambang Purnomo , Atma Gunawan , Fredo Tamara , Saga Aditya Hutama , Ema Dianita Mayasari , Arum Gladys Kusumaningrum , Jonny Karunia Fajar

In the last two decades, studies have been widely carried out to assess the association between single-nucleotide polymorphisms (SNPs) of calcium-sensing receptor (CaSR) gene in exon 7 and the risk of urolithiasis. However, inconsistency across the studies was reported. Therefore, our current study aimed to perform a meta-analysis concerning the association between the risk of urolithiasis and the gene polymorphisms of CaSR R990G, CaSR A986S, and CaSR Q1011E. Published papers from PubMed, Embase, Cohcrane, and Web of science were included for the study, and they were analyzed using fixed or random effect model. A total of 11 papers consisting of eight papers evaluating CaSR R990G, nine papers evaluating CaSR A986S, and five papers evaluating CaSR Q1011E were included in our analysis. Our pooled calculation found that protective effect against urolithiasis was observed in R allele and RR genotype of CaSR R990G and A allele and AA genotype of CaSR A986S. Conversely, increased susceptibility to urolithiasis was found in G allele and RG genotype of CaSR R990G and S allele of CaSR A986S. Interestingly, our findings in sub-group analysis confirmed that the correlation between CaSR R990G and urolithiasis was found in Caucasian population. Meanwhile, in Asian population, the association was observed in CaSR A986S. CaSR R990G and CaSR A986S, but not CaSR Q1011E, are associated with the risk of urolithiasis.

中文翻译:

钙敏感受体 (CaSR) R990G、CaSR A986S 和 CaSR Q1011E 基因多态性与尿石症风险之间的关联:荟萃分析

在过去的二十年中,已广泛开展研究以评估外显子 7 中钙敏感受体 (CaSR) 基因的单核苷酸多态性 (SNP) 与尿石症风险之间的关联。然而,报告了研究之间的不一致。因此,我们目前的研究旨在对尿石症风险与 CaSR R990G、CaSR A986S 和 CaSR Q1011E 基因多态性之间的关联进行荟萃分析。来自 PubMed、Embase、Cohcrane 和 Web of science 的已发表论文被纳入研究,并使用固定或随机效应模型进行分析。我们的分析共包括 11 篇论文,其中包括 8 篇评估 CaSR R990G 的论文、9 篇评估 CaSR A986S 的论文和 5 篇评估 CaSR Q1011E 的论文。我们的汇总计算发现,在 CaSR R990G 的 R 等位基因和 RR 基因型以及 CaSR A986S 的 A 等位基因和 AA 基因型中观察到对尿石症的保护作用。相反,在 CaSR R990G 的 G 等位基因和 RG 基因型以及 CaSR A986S 的 S 等位基因中发现对尿石症的易感性增加。有趣的是,我们在亚组分析中的发现证实了在白种人人群中发现了 CaSR R990G 与尿石症之间的相关性。同时,在亚洲人群中,在 CaSR A986S 中观察到了这种关联。CaSR R990G 和 CaSR A986S,而不是 CaSR Q1011E,与尿石症的风险有关。在 CaSR R990G 的 G 等位基因和 RG 基因型以及 CaSR A986S 的 S 等位基因中发现对尿石症的易感性增加。有趣的是,我们在亚组分析中的发现证实了在白种人人群中发现了 CaSR R990G 与尿石症之间的相关性。同时,在亚洲人群中,在 CaSR A986S 中观察到了这种关联。CaSR R990G 和 CaSR A986S,而不是 CaSR Q1011E,与尿石症的风险有关。在 CaSR R990G 的 G 等位基因和 RG 基因型以及 CaSR A986S 的 S 等位基因中发现对尿石症的易感性增加。有趣的是,我们在亚组分析中的发现证实了在白种人人群中发现了 CaSR R990G 与尿石症之间的相关性。同时,在亚洲人群中,在 CaSR A986S 中观察到了这种关联。CaSR R990G 和 CaSR A986S,而不是 CaSR Q1011E,与尿石症的风险有关。
更新日期:2019-12-31
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