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ORAI1 基因多态性与台湾人群慢性肾脏病的关系。

Genetic polymorphisms of ORAI1 and chronic kidney disease in Taiwanese population.

机构信息

Division of Nephrology, Department of Medicine, Kaohsiung Medical University Hospital/Kaohsiung Medical University, Kaohsiung 807, Taiwan.

Department of Pharmacy, Taipei Medical University Hospital, Taipei 110, Taiwan ; Department of Clinical Pharmacy, College of Medicine, Taipei Medical University, Taipei 110, Taiwan ; Clinical Research Center, Taipei Medical University Hospital, Taipei 110, Taiwan.

出版信息

Biomed Res Int. 2014;2014:290863. doi: 10.1155/2014/290863. Epub 2014 Mar 17.

Abstract

Taiwan has very high incidence and prevalence of chronic kidney disease (CKD), which easily progresses to end-stage renal disease (ESRD). The association between inflammation and CKD has been explored in several studies. ORAI1 functions as a pore-forming subunit of the store-operated calcium channels which are involved in the regulation of immune system. Hence, we conducted a case-control study to determine whether the genetic polymorphisms of ORAI1 gene is a susceptibility factor to CKD and its clinical features in a Taiwanese population. Five hundred seventy-nine CKD patients from a hospital-based CKD care program were included in the study. Five tagging single nucleotide polymorphisms (tSNPs) of ORAI1 were selected from the genotyping data of the Han Chinese population from the HapMap project. Among these polymorphisms, rs12313273 was found to be significantly associated with elevated serum calcium levels, which has been linked to increased risk of death in CKD patients. To have a better management of serum calcium, we suggest that ORAI1 polymorphisms might be used as a potential biomarker for initiating non-calcium-based phosphate binder in CKD patients in the future.

摘要

台湾地区慢性肾脏病(CKD)的发病率和患病率非常高,容易进展为终末期肾病(ESRD)。已有多项研究探讨了炎症与 CKD 之间的关系。ORAI1 作为钙库操纵性钙通道的孔形成亚基,参与免疫系统的调节。因此,我们进行了一项病例对照研究,以确定 ORAI1 基因的遗传多态性是否是台湾人群 CKD 及其临床特征的易感因素。本研究纳入了来自医院 CKD 护理计划的 579 名 CKD 患者。从 HapMap 项目的汉族人群基因分型数据中选择了 ORAI1 的 5 个标签单核苷酸多态性(tSNP)。在这些多态性中,rs12313273 与血清钙水平升高显著相关,而血清钙水平升高与 CKD 患者的死亡风险增加有关。为了更好地管理血清钙水平,我们建议将来可以将 ORAI1 多态性作为 CKD 患者开始使用非钙基磷酸盐结合剂的潜在生物标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5fdf/3976823/6fc1fd98e6b4/BMRI2014-290863.001.jpg

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