APOL1 Renal Risk Variants and Sickle Cell Trait Associations With Reduced Kidney Function in a Large Congolese Population-Based Study.
APOL1 Renal Risk Variants and Sickle Cell Trait Associations With Reduced Kidney Function in a Large Congolese Population-Based Study.
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DOI：
10.1016/j.ekir.2021.09.018
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发表时间：
2022-03
影响因子：
6
通讯作者：
Limou S
中科院分区：
文献类型：
--
作者：
Masimango MI;Jadoul M;Binns-Roemer EA;David VA;Sumaili EK;Winkler CA;Limou S
APOL1、GSTM1风险变体和镰状细胞性状（SCT）与非裔美国人（AA）中的慢性肾脏病（CKD）相关。然而，这种证据在撒哈拉以南非洲（SSA）人群中仍然很少。在一项横断面研究中，我们评估了这些风险变异的患病率及其与估计肾小球滤过率（eGFR）、白蛋白尿和CKD的相关性，研究对象为刚果（DRC）南基伍的城市（n = 587）和农村（n = 730）成人。此外，我们评估了APOL1隐性模型（高风险[HR]与低风险[LR]）、SCT携带以及GSTM1基因型的活性与非活性。APOL 1基因G1和G2等位基因频率分别为8.7%和9.1%，HR基因型频率为3.2%。SCT和GSTM1无效等位基因频率分别为3.8%和51.2%。APOL1 HR与较低的eGFR相关（P = 0.047，比值比[OR] = 4）。SCT患者eGFR较低（P = 0.018），白蛋白尿较高（P = 0.032），CKD风险增加2.4倍（P = 0.031）。APOL 1 HR和SCT与较低的eGFR协同相关（P交互作用= 0.012）。GSTM1无效等位基因与任何肾脏结局均无显著相关性。我们的研究强调了APOL1和SCT变异对DRC患者肾脏预后较差的影响，并主张在SSA环境中进行进一步的遗传学研究。
APOL1, GSTM1 risk variants, and sickle cell trait (SCT) are associated with chronic kidney disease (CKD) among African Americans (AAs). Nevertheless, such evidence remains scarce in sub-Saharan Africa (SSA) populations. In a cross-sectional study, we evaluated the prevalence of these risk variants and their association with estimated glomerular filtration rate (eGFR), albuminuria, and CKD in urban (n = 587) and rural (n = 730) adults from South-Kivu, DR Congo (DRC). Furthermore, we evaluated APOL1 recessive model (high risk [HR] vs. low risk [LR]), SCT carriage, and the active versus inactive GSTM1 genotypes. The frequencies of the APOL1 G1 and G2 alleles were 8.7% and 9.1%, respectively, and 3.2% carried the HR genotype. SCT and GSTM1 null allele frequencies were 3.8% and 51.2%, respectively. APOL1 HR was associated with lower eGFR (P = 0.047, odds ratio [OR] = 4). Individuals with SCT exhibited lower eGFR (P = 0.018), higher albuminuria (P = 0.032), and 2.4× increased risk of CKD (P = 0.031). APOL1 HR and SCT were synergistically associated with lower eGFR (Pinteraction = 0.012). The GSTM1 null allele was not significantly associated with any renal outcomes. Our study highlighted the impact of APOL1 and SCT variants on poorer renal outcomes in the DRC and advocates for further genetic studies in SSA settings.
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DOI：
10.1126/science.1193032
发表时间：
2010-08-13
期刊：
Science (New York, N.Y.)
影响因子：
--
作者：
Genovese G;Friedman DJ;Ross MD;Lecordier L;Uzureau P;Freedman BI;Bowden DW;Langefeld CD;Oleksyk TK;Uscinski Knob AL;Bernhardy AJ;Hicks PJ;Nelson GW;Vanhollebeke B;Winkler CA;Kopp JB;Pays E;Pollak MR
通讯作者：
Pollak MR
先天免疫途径调节肾病基因载脂蛋白L1。
影响因子：
19.6
作者：
通讯作者：
--
影响因子：
6
作者：
Ekulu, Pepe M.;Nkoy, Agathe B.;Levtchenko, Elena N.
通讯作者：
Levtchenko, Elena N.
影响因子：
13.6
作者：
Kopp, Jeffrey B.;Nelson, George W.;Winkler, Cheryl A.
通讯作者：
Winkler, Cheryl A.
影响因子：
4.2
作者：
Barker, Mikaela K.;Henderson, Amanda M.;Karakochuk, Crystal D.
通讯作者：
Karakochuk, Crystal D.