Clinical phenotype of APOL1 nephropathy in young relatives of patients with end-stage renal disease.
Clinical phenotype of APOL1 nephropathy in young relatives of patients with end-stage renal disease.
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DOI：
10.1007/s00467-014-3031-0
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发表时间：
2015-06
影响因子：
3
通讯作者：
Jain, Sanjay
中科院分区：
文献类型：
--
作者：
Anyaegbu, Elizabeth I.;Shaw, Andrey S.;Hruska, Keith A.;Jain, Sanjay
关键词：
载脂蛋白 L-1 (APOL1) 基因中的两个编码变体 G1 和 G2 与成年非裔美国人中 ESRD 发病率的增加有关。这些变异与高血压引起的肾病、局灶节段性肾小球硬化和 HIV 相关肾病有关。我们假设，作为一种遗传性疾病，APOL1 肾病具有儿童表型。我们通过对 93 名患有高血压或局灶节段性肾小球硬化症的年轻非洲裔美国人进行病例对照研究，使用基于定制的 TaqMan 等位基因区分测定来确定与 APOL1 风险变异 G1 和 G2 的关联，从而调查了患有高血压或局灶节段性肾小球硬化症和终末期肾病家族史的年轻非裔美国人中 APOL1 变异的发生率。 61 例有肾脏疾病家族史的病例中，有 40 例 (66%) 有两种 APOL-1 风险变异，显着高于病例对照和一般非裔美国人人群的患病率 (p < 0.001)。 24/29 患有肾病的高血压患者有两种 APOL1 风险变异，而 9 名无肾病的高血压患者中没有一人有超过一种风险等位基因。尽管队列规模较小，但我们的研究结果首次强烈表明，有 ESRD 家族史的年轻非裔美国人高血压患者中的 2 个 APOL1 风险等位基因与肾脏疾病密切相关。
Two coding variants, G1 and G2, in the apolipoprotein L-1 (APOL1) gene are associated with increased incidence of ESRD in the adult African American population. These variants associate with hypertension attributed renal disease, focal segmental glomerulosclerosis and HIV associated nephropathy. We hypothesized that as a genetic disease, APOL1 nephropathy has a pediatric phenotype. We investigated the incidence of APOL1 variants in young African Americans with hypertension or focal segmental glomerulosclerosis and a family history of end stage renal disease by conducting a case-control study of 93 pediatric and young adult African Americans with hypertension or focal segmental glomerulosclerosis to determine the association with APOL1 risk variants, G1 and G2, using custom made TaqMan based allelic discrimination assays. Forty of the 61 cases (66%) with a family history of kidney disease had two APOL-1 risk variants, significantly higher than the prevalence in the case controls and the general African American population (p < 0.001). 24/29 patients with hypertension attributed kidney disease had two APOL1 risk variants while none of nine hypertensive patients without kidney disease had more than one risk allele. Although a small cohort, our findings strongly suggest for the first time that 2 APOL1 risk alleles in hypertensive young African Americans with a family history of ESRD are strongly associated with kidney disease.
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影响因子：
5
作者：
通讯作者：
--
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
影响因子：
13.2
作者：
Collins, Allan J.;Foley, Robert N.;Agodoa, Lawrence
通讯作者：
Agodoa, Lawrence
影响因子：
13.6
作者：
Papeta, Natalia;Kiryluk, Krzysztof;Gharavi, Ali G.
通讯作者：
Gharavi, Ali G.
影响因子：
--
作者：
WHITTLE, JC;WHELTON, PK;KLAG, MJ
通讯作者：
KLAG, MJ