PubMed 21041692

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Title: Identification of genomic predictors of atrioventricular conduction: using electronic medical records as a tool for genome science.

Authors: Joshua C Denny, Marylyn D Ritchie, Dana C Crawford, Jonathan S Schildcrout, Andrea H Ramirez, Jill M Pulley, Melissa A Basford, Daniel R Masys, Jonathan L Haines, Dan M Roden

Journal, date & volume: Circulation, 2010 Nov 16 , 122, 2016-21

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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.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)).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.