Genome-wide study of resistant hypertension identified from electronic health records

被引：32

作者：

Dumitrescu, Logan ^{[1
]}

Ritchie, Marylyn D. ^{[2
]}

Denny, Joshua C. ^{[3
,4
]}

El Rouby, Nihal M. ^{[5
,6
]}

McDonough, Caitrin W. ^{[5
,6
]}

Bradford, Yuki ^{[2
]}

Ramirez, Andrea H. ^{[4
]}

Bielinski, Suzette J. ^{[7
]}

Basford, Melissa A. ^{[8
]}

Chai, High Seng ^{[9
]}

Peissig, Peggy ^{[10
]}

Carrell, David ^{[11
]}

Pathak, Jyotishman ^{[9
]}

Rasmussen, Luke V. ^{[12
]}

Wang, Xiaoming ^{[3
]}

Pacheco, Jennifer A. ^{[13
]}

Kho, Abel N. ^{[14
]}

Hayes, M. Geoffrey ^{[14
]}

Matsumoto, Martha ^{[9
]}

Smith, Maureen E. ^{[13
]}

Li, Rongling ^{[15
]}

Cooper-DeHoff, Rhonda M. ^{[5
,6
,16
]}

Kullo, Iftikhar J. ^{[17
]}

Chute, Christopher G. ^{[18
]}

Chisholm, Rex L. ^{[13
]}

Jarvik, Gail P. ^{[19
]}

Larson, Eric B. ^{[11
]}

Carey, David ^{[20
]}

McCarty, Catherine A. ^{[21
]}

Williams, Marc S. ^{[22
]}

Roden, Dan M. ^{[4
,23
]}

Bottinger, Erwin ^{[24
]}

Johnson, Julie A. ^{[5
,6
,25
]}

de Andrade, Mariza ^{[9
]}

Crawford, Dana C. ^{[16
]}

机构：

[1] Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, Nashville, TN 37212 USA

[2] Geisinger Hlth Syst, Biomed & Translat Informat, Danville, PA USA

[3] Vanderbilt Univ, Dept Biomed Informat, 221 Kirkland Hall, Nashville, TN 37235 USA

[4] Vanderbilt Univ, Dept Med, Nashville, TN USA

[5] Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL USA

[6] Univ Florida, Coll Pharm, Ctr Pharmacogen, Gainesville, FL USA

[7] Mayo Clin, Div Epidemiol, Rochester, MN USA

[8] Vanderbilt Univ, Res Off, 221 Kirkland Hall, Nashville, TN 37235 USA

[9] Mayo Clin, Div Biomed Stat & Informat, Dept Hlth Sci Res, Rochester, MN USA

[10] Marshfield Clin Res Fdn, Biomed Informat Res Ctr, Marshfield, WI USA

[11] Grp Hlth Res Inst, Seattle, WA USA

[12] Northwestern Univ, Dept Prevent Med, Div Hlth & Biomed Informat, Chicago, IL 60611 USA

[13] Northwestern Univ, Ctr Genet Med, Chicago, IL 60611 USA

[14] Northwestern Univ, Dept Med, Feinberg Sch Med, Chicago, IL 60611 USA

[15] NHGRI, Div Genom Med, Bethesda, MD 20892 USA

[16] Case Western Reserve Univ, Inst Computat Biol, Epidemiol & Biostat, Cleveland, OH 44106 USA

[17] Mayo Clin, Dept Cardiovasc Dis, Rochester, MN USA

[18] Johns Hopkins Univ, Div Gen Internal Med, Baltimore, MD USA

[19] Univ Washington, Med Ctr, Dept Med, Seattle, WA 98195 USA

[20] Geisinger Hlth Syst, Weis Ctr Res, Danville, PA USA

[21] Essentia Inst Rural Hlth, Duluth, MN USA

[22] Geisinger Hlth Syst, Genom Med Inst, Danville, PA USA

[23] Vanderbilt Univ, Dept Pharmacol, Nashville, TN USA

[24] Mt Sinai, Charles R Bronfman Inst Personalized Med, New York, NY USA

[25] Univ Florida, Coll Med, Div Cardiovasc Med, Gainesville, FL USA

来源：

PLOS ONE | 2017年 / 12卷 / 02期

关键词：

GENETIC EPIDEMIOLOGY RESEARCH; CORONARY-ARTERY-DISEASE; BLOOD-PRESSURE RESPONSE; MEDICAL-RECORDS; EMERGE NETWORK; CONTROL RATES; QUALITY-CONTROL; PULSE PRESSURE; MEAN ARTERIAL; ADULT HEALTH;

D O I：

10.1371/journal.pone.0171745

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Resistant hypertension is defined as high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes. Despite the important health consequences of resistant hypertension, few studies of resistant hypertension have been conducted. To perform a genome-wide association study for resistant hypertension, we defined and identified cases of resistant hypertension and hypertensives with treated, controlled hypertension among > 47,500 adults residing in the US linked to electronic health records (EHRs) and genotyped as part of the electronic MEdical Records & GEnomics (eMERGE) Network. Electronic selection logic using billing codes, laboratory values, text queries, and medication records was used to identify resistant hypertension cases and controls at each site, and a total of 3,006 cases of resistant hypertension and 876 controlled hypertensives were identified among eMERGE Phase I and II sites. After imputation and quality control, a total of 2,530,150 SNPs were tested for an association among 2,830 multi-ethnic cases of resistant hypertension and 876 controlled hypertensives. No test of association was genome-wide significant in the full dataset or in the dataset limited to European American cases (n = 1,719) and controls (n = 708). The most significant finding was CLNK rs13144136 at p = 1.00x10(-6) (odds ratio = 0.68; 95% CI = 0.58-0.80) in the full dataset with similar results in the European American only dataset. We also examined whether SNPs known to influence blood pressure or hypertension also influenced resistant hypertension. None was significant after correction for multiple testing. These data highlight both the difficulties and the potential utility of EHR-linked genomic data to study clinically-relevant traits such as resistant hypertension.

引用

页数：19

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