A Genome-Wide Association Study of Red Blood Cell Traits Using the Electronic Medical Record
A Genome-Wide Association Study of Red Blood Cell Traits Using the Electronic Medical Record
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DOI：
10.1371/journal.pone.0013011
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发表时间：
2010-09-28
期刊：
影响因子：
3.7
通讯作者：
Chute, Christopher G.
中科院分区：
文献类型：
--
作者：
Kullo, Iftikhar J.;Ding, Keyue;Chute, Christopher G.
背景：电子病历（EMR）是进行全基因组关联研究（GWAS）的高通量表型分析的潜在来源，包括那些与医学相关的数量性状。我们描述了使用梅奥诊所EMR对外周动脉疾病（PAD）患者和非PAD对照组进行红细胞（RBC）特征的GWAS。方法和主要发现：从1994年1月至2009年9月的EMR中提取血红蛋白水平、红细胞压积、红细胞计数、平均红细胞体积、平均红细胞血红蛋白和平均红细胞血红蛋白浓度的结果。在3,411例患者的35,159个RBC特征值中，我们排除了1,165例患者的12,864个值，这些值是在住院期间或血液学疾病、恶性肿瘤或使用影响RBC特征的药物的情况下测量的，最终的基因分型样本为3,012个，其中80%的患者有>= 2测量值。每个红细胞特征的中位数用于遗传分析，该分析使用年龄，性别和PAD状态调整的加性模型进行。我们鉴定出4个基因位点与(P
Background: The Electronic Medical Record (EMR) is a potential source for high throughput phenotyping to conduct genome-wide association studies (GWAS), including those of medically relevant quantitative traits. We describe use of the Mayo Clinic EMR to conduct a GWAS of red blood cell (RBC) traits in a cohort of patients with peripheral arterial disease (PAD) and controls without PAD.Methodology and Principal Findings: Results for hemoglobin level, hematocrit, RBC count, mean corpuscular volume, mean corpuscular hemoglobin, and mean corpuscular hemoglobin concentration were extracted from the EMR from January 1994 to September 2009. Out of 35,159 RBC trait values in 3,411 patients, we excluded 12,864 values in 1,165 patients that had been measured during hospitalization or in the setting of hematological disease, malignancy, or use of drugs that affect RBC traits, leaving a final genotyped sample of 3,012, 80% of whom had >= 2 measurements. The median of each RBC trait was used in the genetic analyses, which were conducted using an additive model that adjusted for age, sex, and PAD status. We identified four genomic loci that were associated (P