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非洲视角下慢性肾脏病的遗传风险:一项系统综述

An African perspective on the genetic risk of chronic kidney disease: a systematic review.

作者信息

George Cindy, Yako Yandiswa Y, Okpechi Ikechi G, Matsha Tandi E, Kaze Folefack Francois J, Kengne Andre P

机构信息

Non-Communicable Diseases Research Unit, South African Medical Research Council, Parow Valley, PO Box 19070, Cape Town, South Africa.

Department of Human Biology, Faculty of Health Sciences, Walter Sisulu University, Mthatha, South Africa.

出版信息

BMC Med Genet. 2018 Oct 19;19(1):187. doi: 10.1186/s12881-018-0702-x.

Abstract

BACKGROUND

Individuals of African ethnicity are disproportionately burdened with chronic kidney disease (CKD). However, despite the genetic link, genetic association studies of CKD in African populations are lacking.

METHODS

We conducted a systematic review to critically evaluate the existing studies on CKD genetic risk inferred by polymorphism(s) amongst African populations in Africa. The study followed the HuGE handbook and PRISMA protocol. We included studies reporting on the association of polymorphism(s) with prevalent CKD, end-stage renaldisease (ESRD) or CKD-associated traits. Given the very few studies investigating the effects of the same single nucleotide polymorphisms (SNPs) on CKD risk, a narrative synthesis of the evidence was conducted.

RESULTS

A total of 30 polymorphisms in 11 genes were investigated for their association with CKD, ESRD or related traits, all using the candidate-gene approach. Of all the included genes, MYH9, AT1R and MTHFR genes failed to predict CKD or related traits, while variants in the APOL1, apoE, eNOS, XPD, XRCC1, renalase, ADIPOQ, and CCR2 genes were associated with CKD or other related traits. Two SNPs (rs73885319, rs60910145) and haplotypes (G-A-G; G1; G2) of the apolipoprotein L1 (APOL1) gene were studied in more than one population group, with similar association with prevalent CKD observed. The remaining polymorphisms were investigated in single studies.

CONCLUSION

According to this systematic review, there is currently insufficient evidence of the specific polymorphisms that poses African populations at an increased risk of CKD. Large-scale genetic studies are warranted to better understand susceptibility polymorphisms, specific to African populations.

摘要

背景

非洲裔个体患慢性肾脏病(CKD)的负担过重。然而,尽管存在遗传联系,但非洲人群中关于CKD的遗传关联研究却很缺乏。

方法

我们进行了一项系统综述,以严格评估非洲人群中由多态性推断的CKD遗传风险的现有研究。该研究遵循HuGE手册和PRISMA方案。我们纳入了报告多态性与CKD患病率、终末期肾病(ESRD)或CKD相关特征之间关联的研究。鉴于研究同一单核苷酸多态性(SNP)对CKD风险影响的研究非常少,我们对证据进行了叙述性综合分析。

结果

共研究了11个基因中的30个多态性与CKD、ESRD或相关特征的关联,均采用候选基因方法。在所有纳入的基因中,MYH9、AT1R和MTHFR基因未能预测CKD或相关特征,而载脂蛋白L1(APOL1)、载脂蛋白E(apoE)、内皮型一氧化氮合酶(eNOS)、XPD、XRCC1、肾酶、脂联素(ADIPOQ)和CCR2基因的变异与CKD或其他相关特征有关。载脂蛋白L1(APOL1)基因的两个SNP(rs73885319、rs60910145)和单倍型(G-A-G;G1;G2)在多个群体中进行了研究,观察到与CKD患病率有相似的关联。其余多态性仅在单一研究中进行了调查。

结论

根据这项系统综述,目前尚无足够证据表明特定多态性会使非洲人群患CKD的风险增加。有必要开展大规模遗传研究,以更好地了解非洲人群特有的易感性多态性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0cd6/6194564/94fd156049fa/12881_2018_702_Fig1_HTML.jpg

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