Polygenic risk scores and kidney traits in the Hispanic/Latino population: The Hispanic Community Health Study/Study of Latinos.
Polygenic risk scores and kidney traits in the Hispanic/Latino population: The Hispanic Community Health Study/Study of Latinos.
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西班牙裔/拉丁裔人口中的多基因风险评分和肾脏特征：西班牙裔社区健康研究/拉丁美洲人研究。
DOI：
10.1016/j.xhgg.2023.100177
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发表时间：
2023-04-13
期刊：
影响因子：
--
通讯作者：
Franceschini, Nora
中科院分区：
文献类型：
--
作者：
Zhou, Laura Y.;Sofer, Tamar;Horimoto, Andrea R. V. R.;Talavera, Gregory A.;Lash, James P.;Cai, Jianwen;Franceschini, Nora
估计肾小球滤过率(EGFR)用于评估肾功能和确定慢性肾脏疾病(CKD)的存在，CKD在美国是一种高度流行的疾病，在西班牙裔/拉丁裔个体的不同亚群中有所不同。多基因风险评分(PRS)是一种流行的方法，它使用大型全基因组关联研究(GWAS)来提供对疾病风险的强有力的估计。然而，由于基于拉美裔/拉丁裔人口的全球人口统计分析的汇总统计数据有限，因此只能使用不同的血统GWAS来计算PRSS。来自其他GWAS参考人群的EGFR PRSS在西班牙裔/拉丁裔人群中的表现尚未得到检查。我们比较了在西班牙裔/拉丁裔个人中使用GWA值显著变异、聚集和阈值(C&T)和PRS-CS预测EGFR的PRS结构，以及使用不同参考GWASMeta分析计算的PRS的组合，这些荟萃分析来自来自西班牙裔社区健康研究/拉丁裔研究的西班牙裔/拉丁裔个人中的欧洲和多种族研究(HCHS/SOL)。所有EGFRPRS均与−高度相关(P<0.05)。此外，EGFR PRS与就诊1或就诊2的CKD流行风险和就诊2发生CKD的风险显著相关，联合PRS具有最好的性能。使用妇女健康倡议SNP健康协会资源(WHI-SHARE)的数据，在另一个拉美裔/拉丁裔个人数据集中复制了这些调查结果。我们比较了多基因风险评分(PRSS)的不同结构，以预测西班牙裔/拉丁裔个体的估计肾小球滤过率(EGFR)，这是一个GWAS很少的群体。构建的PRS与较高的EGFR和较低的慢性肾脏疾病风险高度相关，联合PRS在独立验证中具有最好的性能。
Estimated glomerular filtration rate (eGFR) is used to evaluate kidney function and determine the presence of chronic kidney disease (CKD), a highly prevalent disease in the US that varies among subgroups of Hispanic/Latino individuals. The polygenic risk score (PRS) is a popular method that uses large genome-wide association studies (GWASs) to provide a strong estimate of disease risk. However, due to the limited availability of summary statistics from GWAS meta-analyses based on Hispanic/Latino populations, PRSs can only be computed using different ancestry GWASs. The performance of eGFR PRSs derived from other GWAS reference populations for Hispanic/Latino population has not been examined. We compared PRS constructions for eGFR prediction in Hispanic/Latino individuals using GWAS-significant variants, clumping and thresholding (C&T), and PRS-CS, as well as a combination of PRSs calculated with different reference GWAS meta-analyses from European and multi-ethnic studies in Hispanic/Latino individuals from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). All eGFR PRSs were highly associated with eGFR (p < 1E−20). Additionally, eGFR PRSs were significantly associated with lower risk of prevalent CKD at visit 1 or 2 and incident CKD at visit 2, with the combined PRSs having the best performance. These PRS findings were replicated in an additional dataset of Hispanic/Latino individuals using data from the Women’s Health Initiative SNP Health Association Resource (WHI-SHARe). We compared different constructions of polygenic risk scores (PRSs) for estimated glomerular filtration rate (eGFR) prediction in Hispanic/Latino individuals, a population with few GWASs. Constructed PRSs were highly associated with higher eGFR and lower risk of chronic kidney disease, with combined PRSs having the best performance in an independent validation.
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DOI：
10.1056/nejmoa1114248
发表时间：
2012-07-05
期刊：
The New England journal of medicine
影响因子：
--
作者：
Inker LA;Schmid CH;Tighiouart H;Eckfeldt JH;Feldman HI;Greene T;Kusek JW;Manzi J;Van Lente F;Zhang YL;Coresh J;Levey AS;CKD-EPI Investigators
通讯作者：
CKD-EPI Investigators
影响因子：
5.6
作者：
Lavange, Lisa M.;Kalsbeek, William D.;Sorlie, Paul D.;Aviles-Santa, Larissa M.;Kaplan, Robert C.;Barnhart, Janice;Liu, Kiang;Giachello, Aida;Lee, David J.;Ryan, John;Criqui, Michael H.;Elder, John P.
通讯作者：
Elder, John P.
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：
14.9
作者：
Buniello, Annalisa;MacArthur, Jacqueline A. L.;Parkinson, Helen
通讯作者：
Parkinson, Helen
影响因子：
3.5
作者：
Chen, Christina T. L.;Fernandez-Rhodes, Lindsay;Franceschini, Nora
通讯作者：
Franceschini, Nora