Leveraging informatics for genetic studies: use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease
Leveraging informatics for genetic studies: use of the electronic medical record to enable a genome-wide association study of peripheral arterial disease
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DOI：
10.1136/jamia.2010.004366
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发表时间：
2010-09-01
影响因子：
6.4
通讯作者：
Chute, Christopher G.
中科院分区：
文献类型：
--
作者：
Kullo, Iftikhar J.;Fan, Jin;Chute, Christopher G.
背景利用电子病历（EMR）进行全基因组关联研究（GWAS）是一个很有意义的研究。方法通过招募非侵入性下肢动脉评估或负荷心电图的患者，建立DNA和血浆的生物储存库。外周动脉疾病（PAD）定义为静息/运动后踝臂指数（ABI）小于或等于0.9，有下肢血运重建史或腿部动脉可压缩性差。对照组为无PAD证据的患者。从EMR中提取人口统计学数据和实验室检查值。药物使用和吸烟状况通过临床笔记的自然语言处理来确定。其他危险因素和合并症的基础上确定ICD-9-CM代码，药物使用和实验室data.Results 1802例ABI异常，115例非动脉粥样硬化性血管疾病，如血管炎，Buerger病，创伤和栓塞（表型）的基础上ICD-9-CM诊断代码，并被排除。PAD病例（66 +/- 11岁，64%男性）比对照组（61 +/- 8岁，60%男性）年龄大，但地理分布和种族组成相似。在PAD病例中，1444例（85.6%）有ABI异常，233例（13.8%）动脉可压缩性差，10例（0.6%）有下肢血运重建史。在95例患者和100名对照者的随机样本中，基于EMR的算法确定的危险因素和合并症与人工记录审查相比具有良好的一致性;精确度范围为67%至100%，召回率范围为84%至100%。与EMR相关的生物储存库可能提供一种相对有效的GWAS方法。
Background There is significant interest in leveraging the electronic medical record (EMR) to conduct genome-wide association studies (GWAS).Methods A biorepository of DNA and plasma was created by recruiting patients referred for non-invasive lower extremity arterial evaluation or stress ECG. Peripheral arterial disease (PAD) was defined as a resting/post-exercise ankle-brachial index (ABI) less than or equal to 0.9, a history of lower extremity revascularization, or having poorly compressible leg arteries. Controls were patients without evidence of PAD. Demographic data and laboratory values were extracted from the EMR. Medication use and smoking status were established by natural language processing of clinical notes. Other risk factors and comorbidities were ascertained based on ICD-9-CM codes, medication use and laboratory data.Results Of 1802 patients with an abnormal ABI, 115 had non-atherosclerotic vascular disease such as vasculitis, Buerger's disease, trauma and embolism (phenocopies) based on ICD-9-CM diagnosis codes and were excluded. The PAD cases (66 +/- 11 years, 64% men) were older than controls (61 +/- 8 years, 60% men) but had similar geographical distribution and ethnic composition. Among PAD cases, 1444 (85.6%) had an abnormal ABI, 233 (13.8%) had poorly compressible arteries and 10 (0.6%) had a history of lower extremity revascularization. In a random sample of 95 cases and 100 controls, risk factors and comorbidities ascertained from EMR-based algorithms had good concordance compared with manual record review; the precision ranged from 67% to 100% and recall from 84% to 100%.Conclusion This study demonstrates use of the EMR to ascertain phenocopies, phenotype heterogeneity and relevant covariates to enable a GWAS of PAD. Biorepositories linked to EMR may provide a relatively efficient means of conducting GWAS.