Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population.

IF 4.6 2区 医学 Q1 UROLOGY & NEPHROLOGY Clinical Kidney Journal Pub Date : 2024-12-06 eCollection Date: 2025-02-01 DOI:10.1093/ckj/sfae397
Dror Ben-Ruby, Danit Atias-Varon, Maayan Kagan, Guy Chowers, Omer Shlomovitz, Keren Slabodnik-Kaner, Neta Mano, Shany Avayou, Yariv Atsmony, Dana Levin, Edo Dotan, Ronit Calderon-Margalit, Alla Shnaider, Yosef S Haviv, Ohad S Birk, Noam Hadar, Yair Anikster, Noa Berar Yanay, Gil Chernin, Etty Kruzel-Davila, Pazit Beckerman, Benaya Rozen-Zvi, Gabriel T Doctor, Horia C Stanescu, Revital Shemer, Elon Pras, Haike Reznik-Wolf, Ayelet Hashahar Nahum, Dan Dominissini, Karl Skorecki, Asaf Vivante
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Abstract

Background and hypothesis: The two apolipoprotein L1 (APOL1) variants, G1 and G2, are common in populations of sub-Saharan African ancestry. Individuals with two of these alleles (G1 or G2) have an increased risk for a spectrum of non-diabetic chronic kidney diseases. However, these variants are typically not observed outside of populations that self-identify as current continental Africans or having clear recent African ancestry such as, most notably, African Americans, and other large population groups in the Americas and several European countries. We hypothesized that the diverse ethnic groups within the Israeli population may exhibit varying levels of recent African ancestry. Therefore, it is plausible that APOL1 risk alleles might be present even in individuals who do not self-identify as being of sub-Saharan African descent.

Methods: We non-selectively screened people with kidney failure across Israel for APOL1 risk variants using restriction fragment length polymorphism.

Results: We recruited 1744 individuals from 38 dialysis units in Israel. We identified eight patients of Moroccan Jewish, Bedouin, or Muslim Arab ancestry, who carry at least one G1 or G2 allele. None of the eight patients carried the protective APOL1 p.N264K variant. Furthermore, despite all Bedouin individuals being G2 heterozygous, the G2 minor allele frequency was significantly enriched in kidney failure cases compared to ethnically matched controls (P = .006).

Conclusions: These findings show that APOL1 G1 and G2 allelic variants are present in populations previously not appreciated to possess recent sub-Saharan ancestry and suggest that a single G2 risk variant may confer increased risk for chronic kidney disease in certain population contexts.

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以色列透析人群中APOL1 G1和G2变异的多民族患病率
背景和假设:两种载脂蛋白L1 (APOL1)变异,G1和G2,在撒哈拉以南非洲血统人群中很常见。具有这两种等位基因(G1或G2)的个体患非糖尿病性慢性肾脏疾病的风险增加。然而,这些变异通常不会在自认为是当前非洲大陆人或具有明确的近期非洲血统的人群之外观察到,例如,最值得注意的是非裔美国人,以及美洲和几个欧洲国家的其他大型人口群体。我们假设以色列人口中的不同种族群体可能表现出不同程度的近期非洲血统。因此,即使在不自认为是撒哈拉以南非洲后裔的个体中也可能存在APOL1风险等位基因,这是合理的。方法:我们使用限制性片段长度多态性非选择性筛选以色列肾衰竭患者的APOL1风险变异。结果:我们从以色列的38个透析单位招募了1744名患者。我们确定了8例摩洛哥犹太人、贝都因人或穆斯林阿拉伯血统的患者,他们携带至少一个G1或G2等位基因。8例患者均未携带APOL1 p.N264K保护性变异。此外,尽管所有贝都因人都是G2杂合子,但与种族匹配的对照组相比,肾衰竭病例中G2次要等位基因频率显著增加(P = 0.006)。结论:这些研究结果表明,APOL1 G1和G2等位基因变异存在于以前未被认为具有最近撒哈拉以南祖先的人群中,并且表明单个G2风险变异可能会增加某些人群中慢性肾脏疾病的风险。
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来源期刊
Clinical Kidney Journal
Clinical Kidney Journal Medicine-Transplantation
CiteScore
6.70
自引率
10.90%
发文量
242
审稿时长
8 weeks
期刊介绍: About the Journal Clinical Kidney Journal: Clinical and Translational Nephrology (ckj), an official journal of the ERA-EDTA (European Renal Association-European Dialysis and Transplant Association), is a fully open access, online only journal publishing bimonthly. The journal is an essential educational and training resource integrating clinical, translational and educational research into clinical practice. ckj aims to contribute to a translational research culture among nephrologists and kidney pathologists that helps close the gap between basic researchers and practicing clinicians and promote sorely needed innovation in the Nephrology field. All research articles in this journal have undergone peer review.
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