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Published on: June 16, 2014
An African perspective on the genetic risk of chronic kidney disease: a systematic review
Cindy George1, Yandiswa Y Yako2, Ikechi G Okpechi3,4
1Non-Communicable Diseases Research Unit, South African Medical Research Council, Parow Valley, PO Box 19070, Cape Town, South Africa. cindy.george@mrc.ac.za.
Insights
Genetic studies on chronic kidney disease (CKD) in African populations are limited. While some gene variants show associations, more large-scale research is needed to identify specific CKD risk polymorphisms in these groups.
Area of Science:
- Genetics
- Nephrology
- Population Health
Background:
- Chronic kidney disease (CKD) disproportionately affects individuals of African ethnicity.
- Genetic factors are implicated in CKD, yet genetic association studies in African populations are scarce.
Purpose of the Study:
- To systematically review and evaluate existing studies on genetic risk factors for CKD in African populations.
- To identify specific genetic polymorphisms associated with CKD, end-stage renal disease (ESRD), or related traits in individuals of African descent.
Main Methods:
- A systematic review adhering to the HuGE handbook and PRISMA protocol was conducted.
- Studies investigating the association of polymorphisms with prevalent CKD, ESRD, or CKD-associated traits in African populations were included.
- A narrative synthesis of evidence was performed due to the limited number of studies on specific single nucleotide polymorphisms (SNPs).
Main Results:
- 30 polymorphisms across 11 genes were examined using a candidate-gene approach.
- Variants in APOL1, apoE, eNOS, XPD, XRCC1, renalase, ADIPOQ, and CCR2 genes showed associations with CKD or related traits.
- APOL1 gene SNPs (rs73885319, rs60910145) and haplotypes demonstrated consistent associations with prevalent CKD across different population groups.
Conclusions:
- Current evidence is insufficient to pinpoint specific polymorphisms increasing CKD risk in African populations.
- Large-scale genetic studies are essential to elucidate susceptibility polymorphisms unique to African populations.
- Further research is needed to understand the genetic underpinnings of CKD in this demographic.
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.
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