APOL1 G3 Variant Is Associated with Cardiovascular Mortality and Sudden Cardiac Death in Patients Receiving Maintenance Hemodialysis of European Ancestry.
APOL1 G3 Variant Is Associated with Cardiovascular Mortality and Sudden Cardiac Death in Patients Receiving Maintenance Hemodialysis of European Ancestry.
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APOL1 G3变异与欧洲血液透析患者心血管死亡率和心源性猝死相关
DOI：
10.1159/000525448
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发表时间：
2022
影响因子：
3.8
通讯作者：
Moe, Sharon M.
中科院分区：
文献类型：
--
作者：
Schwantes-An, Tae-Hwi;Robinson-Cohen, Cassianne;Liu, Sai;Zheng, Neil;Stedman, Margaret;Wetherill, Leah;Edenberg, Howard J.;Vatta, Matteo;Foroud, Tatiana M.;Chertow, Glenn M.;Moe, Sharon M.
APOL 1基因中的G1和G2变体在非裔美国人中传递慢性肾脏病（CKD）进展的高风险。APOL 1中的G3变体在欧洲血统（EA）患者中更常见;之前尚未在接受透析的EA患者中探索过与该变体相关的结果。从入组盐酸西那卡塞治疗降低心血管事件的评价（EVOLVE）试验的约一半患者中采集DNA，并对G3变体进行基因分型。我们利用加性遗传模型来检验G3与EVOLVE判定的全因死亡率、心血管死亡率、心源性猝死（SCD）和心力衰竭（HF）终点的相关性。分别分析了EA和AfAn样品。在范德比尔特BioVU中使用ICD代码对与EVOLVE中裁定终点平行的心血管事件进行确认。在EVOLVE中，EA患者的G3与心血管死亡和心源性猝死的裁定终点相关。在来自范德比尔特BioVU的验证队列中，由ICD代码定义的心血管事件和心血管死亡率在透析2至<5年的EA参与者中显示出类似的相关性。在接受透析的EA患者中，APOL 1变异体中的G3与心血管事件和心血管死亡率相关。这表明APOL 1基因的变异在不同祖先的人群中不同，可能导致心血管疾病。
The G1 and G2 variants in the APOL1 gene convey high risk for the progression of chronic kidney disease (CKD) in African Americans. The G3 variant in APOL1 is more common in patients of European Ancestry (EA); outcomes associated with this variant have not been explored previously in EA patients receiving dialysis. DNA was collected from approximately half of the patients enrolled in the Evaluation of Cinacalcet HCl Therapy to Lower Cardiovascular Events (EVOLVE) trial and genotyped for the G3 variants. We utilized an additive genetic model to test associations of G3 with the EVOLVE adjudicated endpoints of all-cause mortality, cardiovascular mortality, sudden cardiac death (SCD), and heart failure (HF). EA and African Ancestry (AfAn) samples were analyzed separately. Validation was done in the Vanderbilt BioVU using ICD codes for cardiovascular events that parallel the adjudicated endpoints in EVOLVE. In EVOLVE, G3 in EA patients were associated with the adjudicated endpoints of cardiovascular mortality and sudden cardiac death. In a validation cohort from the Vanderbilt BioVU, cardiovascular events and cardiovascular mortality defined by ICD codes showed similar associations in EA participants who had been on dialysis for 2 to <5 years. G3 in APOL1 variant was associated with cardiovascular events and cardiovascular mortality in the EA patients receiving dialysis. This suggests that variations in the APOL1 gene that differ in populations of different ancestry may contribute to cardiovascular disease.
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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
影响因子：
13.6
作者：
Granado, Daniel;Mueller, Daria;Weide, Thomas
通讯作者：
Weide, Thomas
影响因子：
19.6
作者：
通讯作者：
--
DOI：
10.1097/mnh.0000000000000704
发表时间：
2021-05-01
影响因子：
3.2
作者：
Bruggeman LA;Sedor JR;O'Toole JF
通讯作者：
O'Toole JF
影响因子：
13.6
作者：
Grams, Morgan E.;Surapaneni, Aditya;Freedman, Barry, I
通讯作者：
Freedman, Barry, I