作者
Mark D Elliott, Maddalena Marasa, Enrico Cocchi, Natalie Vena, Jun Y Zhang, Atlas Khan, Sarath Krishna Murthy, Shiraz Bheda, Hila Milo Rasouly, Gundula Povysil, Krzysztof Kiryluk, Ali G Gharavi
发表日期
2023/5/1
期刊
Journal of the American Society of Nephrology
卷号
34
期号
5
页码范围
909-919
出版商
LWW
简介
Background
APOL1 genotype has significant effects on kidney disease development and progression that vary among specific causes of kidney disease, suggesting the presence of effect modifiers.
Methods
We assessed the risk of kidney failure and the eGFR decline rate in patients with CKD carrying high-risk (N= 239) and genetically matched low-risk (N= 1187) APOL1 genotypes. Exome sequencing revealed monogenic kidney diseases. Exome-wide association studies and gene-based and gene set–based collapsing analyses evaluated genetic modifiers of the effect of APOL1 genotype on CKD.
Results
Compared with genetic ancestry-matched patients with CKD with low-risk APOL1 genotypes, those with high-risk APOL1 genotypes had a higher risk of kidney failure (Hazard Ratio [HR]= 1.58), a higher decline in eGFR (6.55 versus 3.63 ml/min/1.73 m 2/yr), and were younger at time of kidney failure (45.1 versus …
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MD Elliott, M Marasa, E Cocchi, N Vena, JY Zhang… - Journal of the American Society of Nephrology, 2023