Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.
Background: Recent genome-wide association studies in which selected community populations are used have identified genomic signals in SCN10A influencing PR duration. The extent to which this can be demonstrated in cohorts derived from electronic medical records is unknown.Methods and Results: We pe...
| Publicado en: | Circulation Vol. 122; no. 20; pp. 2016 - 2022 |
|---|---|
| Autores principales: | , , , , , , , , , , , , , , , , , , , |
| Formato: | research Journal Article |
| Publicado: |
Lippincott Williams & Wilkins
11/16/2010
|
| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=108189157&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 108189157 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 00097322 1FV jtl: Circulation issn: 00097322 maglogo: N pubinfo: dt: 11/16/2010 vid: 122 iid: 20 pid: 433 pub: Lippincott Williams & Wilkins place: Baltimore, Maryland artinfo: ui: 108189157 108189157 NLM21041692 2010866147 10.1161/CIRCULATIONAHA.110.948828 NLM21041692 PMC2991609 108189157 ppf: 2016 ppct: 6 formats: tig: atl: Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science. aug: au: Denny JC Ritchie MD Crawford DC Schildcrout JS Ramirez AH Pulley JM Basford MA Masys DR Haines JL Roden DM Denny, Joshua C Ritchie, Marylyn D Crawford, Dana C Schildcrout, Jonathan S Ramirez, Andrea H Pulley, Jill M Basford, Melissa A Masys, Daniel R Haines, Jonathan L Roden, Dan M affil: Office of Personalized Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232-0575, USA sug: subj: Resource Databases Electrocardiography Electronic Health Records Heart Physiopathology Polymorphism, Genetic Membrane Proteins Adult Aged Female Sequence Analysis Genotype Male Middle Age Adult: 19-44 years Aged: 65+ years Middle Aged: 45-64 years Female Male ab: Background: Recent genome-wide association studies in which selected community populations are used have identified genomic signals in SCN10A influencing PR duration. The extent to which this can be demonstrated in cohorts derived from electronic medical records is unknown.Methods and Results: We performed a genome-wide association study on 2334 European American patients with normal ECGs without evidence of prior heart disease from the Vanderbilt DNA databank, BioVU, which accrues subjects from routine patient care. Subjects were identified by combinations of natural language processing, laboratory queries, and billing code queries of deidentified medical record data. Subjects were 58% female, of mean (± SD) age 54 ± 15 years, and had mean PR intervals of 158 ± 18 ms. Genotyping was performed with the use of the Illumina Human660W-Quad platform. Our results identify 4 single nucleotide polymorphisms (rs6800541, rs6795970, rs6798015, rs7430477) linked to SCN10A associated with PR interval (P=5.73 × 10(-7) to 1.78 × 10(-6)).Conclusions: This genome-wide association study confirms a gene heretofore not implicated in cardiac pathophysiology as a modulator of PR interval in humans. This study is one of the first replication genome-wide association studies performed with the use of an electronic medical records-derived cohort, supporting their further use for genotype-phenotype analyses. pubtype: Academic Journal doctype: research Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
|---|