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Association of chromosome 9p21 SNPs with cardiovascular phenotypes in morbid obesity using electronic health record data - Descarga este documento en PDF. Documentación en PDF para descargar gratis. Disponible también para leer online.

Genomic Medicine

, Volume 2, Issue 1–2, pp 33–43

First Online: 26 July 2008Received: 21 April 2008Revised: 12 June 2008Accepted: 24 June 2008DOI: 10.1007-s11568-008-9023-z

Cite this article as: Wood, G.C., Still, C.D., Chu, X. et al. HUGO J 2008 2: 33. doi:10.1007-s11568-008-9023-z

Abstract

Genomic medicine research requires substantial time and resources to obtain phenotype data. The electronic health record offers potential efficiencies in addressing these temporal and economic challenges, but few studies have explored the feasibility of using such data for genetics research. The main objective of this study was to determine the association of two genetic variants located on chromosome 9p21 conferring susceptibility to coronary heart disease and type 2 diabetes with a variety of clinical phenotypes derived from the electronic health record in a population of morbidly obese patients. Data on more than 100 clinical measures including diagnoses, laboratory values, and medications were extracted from the electronic health records of a total of 709 morbidly obese body mass index BMI ≥ 40 kg-m patients. Two common single nucleotide polymorphisms located at chromosome 9p21 recently linked to coronary heart disease and type 2 diabetes McPherson et al. Science 316:1488–1491, 2007; Saxena et al. Science 316:1331–1336, 2007; Scott et al. Science 316:1341-1345, 2007 were genotyped to assess statistical association with clinical phenotypes. Neither the type 2 diabetes variant nor the coronary heart disease variant was related to any expected clinical phenotype, although high-risk type 2 diabetes-coronary heart disease compound genotypes were associated with several coronary heart disease phenotypes. Electronic health records may be efficient sources of data for validation studies of genetic associations.

KeywordsSNP Morbid obesity Electronic health record Cardiovascular disease Type 2 diabetes  Download fulltext PDF



Autor: G. Craig Wood - Christopher D. Still - Xin Chu - Meghan Susek - Robert Erdman - Christina Hartman - Stephanie Yeager - Ma

Fuente: https://link.springer.com/







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