Association of chromosome 9p21 SNPs with cardiovascular phenotypes in morbid obesity using electronic health record data.

Genomic Medicine
G Craig WoodGlenn S Gerhard

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(2)) 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...Continue Reading

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Jan 13, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Maria Conceição PereiraIsabel Alonso
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Jun 26, 2020·Frontiers in Genetics·Liwei WangHongfang Liu
May 27, 2021·Annual Review of Genomics and Human Genetics·Jodell E LinderJosh F Peterson

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