SLC12A3 基因 Arg913Gln 变异与 2 型糖尿病和 Gitelman 综合征的糖尿病肾病有关：系统评价。
Arg913Gln variation of SLC12A3 gene is associated with diabetic nephropathy in type 2 diabetes and Gitelman syndrome: a systematic review.
机构信息
División Académica Multidisciplinaria de Comalcalco, Universidad Juárez Autónoma de Tabasco, C. P. 86650, Comalcalco, Tabasco, Mexico.
Secretaría de Salud, Hospital General de Comalcalco, Departamento de Laboratorio de Análisis Clínicos, C.P. 86300, Comalcalco, Tabasco, Mexico.
出版信息
BMC Nephrol. 2019 Oct 28;20(1):393. doi: 10.1186/s12882-019-1590-9.
BACKGROUND
Diabetic nephropathy is a global common cause of chronic kidney disease and end-stage renal disease. A lot of research has been conducted in biomedical sciences, which has enhanced understanding of the pathophysiology of diabetic nephropathy and has expanded the potential available therapies. An increasing number of evidence suggests that genetic alterations play a major role in development and progression of diabetic nephropathy. This systematic review was focused on searching an association between Arg913Gln variation in SLC12A3 gene with diabetic nephropathy in individuals with Type 2 Diabetes and Gitelman Syndrome.
METHODS
An extensive systematic review of the literature was completed using PubMed, EBSCO and Cochrane Library, from their inception to January 2018. The PRISMA guidelines were followed and the search strategy ensured that all possible studies were identified to compile the review. Inclusion criteria for this review were: 1) Studies that analyzed the SLC12A3 gene in individuals with Type 2 Diabetes and Gitelman Syndrome. 2) Use of at least one analysis investigating the association between the Arg913Gln variation of SLC12A3 gene with diabetic nephropathy. 3) Use of a case-control or follow-up design. 4) Investigation of type 2 diabetes mellitus in individuals with Gitelman's syndrome, with a history of diabetic nephropathy.
RESULTS
The included studies comprised 2106 individuals with diabetic nephropathy. This review shows a significant genetic association in most studies in the Arg913Gln variation of SLC12A3 gene with the diabetic nephropathy, pointing out that the mutations of this gene could be a key predictor of end-stage renal disease.
CONCLUSIONS
The results showed in this systematic review contribute to better understanding of the association between the Arg913Gln variation of SLC12A3 gene with the pathogenesis of diabetic nephropathy in individuals with T2DM and GS.
背景
糖尿病肾病是全球慢性肾脏病和终末期肾病的共同病因。生物医学科学领域进行了大量研究，这些研究增进了对糖尿病肾病病理生理学的理解，并扩大了潜在的治疗方法。越来越多的证据表明，遗传改变在糖尿病肾病的发生和发展中起主要作用。本系统评价的重点是搜索 SLC12A3 基因中 Arg913Gln 变异与 2 型糖尿病和 Gitelman 综合征个体中糖尿病肾病之间的关联。
方法
使用 PubMed、EBSCO 和 Cochrane Library 进行了广泛的系统文献检索，检索时间从建库至 2018 年 1 月。遵循 PRISMA 指南，并确保搜索策略能够确定所有可能的研究来汇编综述。本综述的纳入标准为：1）分析 2 型糖尿病和 Gitelman 综合征个体中 SLC12A3 基因的研究；2）至少使用一种分析方法研究 SLC12A3 基因 Arg913Gln 变异与糖尿病肾病之间的关联；3）使用病例对照或随访设计；4）研究 Gitelman 综合征个体中的 2 型糖尿病，伴有糖尿病肾病病史。
结果
纳入的研究包括 2106 例糖尿病肾病患者。本综述表明，在大多数研究中，SLC12A3 基因 Arg913Gln 变异与糖尿病肾病之间存在显著的遗传相关性，指出该基因突变可能是终末期肾病的关键预测因子。
结论
本系统评价的结果有助于更好地理解 SLC12A3 基因 Arg913Gln 变异与 T2DM 和 GS 个体中糖尿病肾病发病机制之间的关联。
Zotero 插件