Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between.

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Genetic Analysis of 103 Candidate Genes for Coronary Artery Disease and Associated Phenotypes in a Founder Population Reveals a New Association between Endothelin-1 and High-Density Lipoprotein Cholesterol  Guillaume Paré, David Serre, Diane Brisson, Sonia S. Anand, Alexandre Montpetit, Gérald Tremblay, James C. Engert, Thomas J. Hudson, Daniel Gaudet  The American Journal of Human Genetics  Volume 80, Issue 4, Pages 673-682 (April 2007) DOI: 10.1086/513286 Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 1 Overview of the association analysis. The family and case-control samples were combined to perform an association analysis (i.e., the joint analysis). Twelve associations proved to be statistically significant. Of these, 10 are either known in the literature or in LD with known functional SNPs. The two remaining associations are new and thus were tested in the validation sample. The association between rs5370 and HDL cholesterol concentrations was confirmed in the validation sample. The American Journal of Human Genetics 2007 80, 673-682DOI: (10.1086/513286) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 2 Association between HDL cholesterol concentrations and rs2292318 (in LCAT). Age- and sex-adjusted, log-transformed HDL cholesterol concentrations are shown as a function of rs2292318 genotype (for family and case-control samples combined). A box-and-whisker plot is used; by graphically displaying the median and the end of the 1st and 3rd quartiles, these plots provide a robust assessment of the associations observed. Overall, 1,106 G/G, 307 A/G, and 19 A/A individuals are represented (P=.00002). The American Journal of Human Genetics 2007 80, 673-682DOI: (10.1086/513286) Copyright © 2007 The American Society of Human Genetics Terms and Conditions

Figure 3 Association between the HDL cholesterol concentrations and rs5370 (in EDN1). Age- and sex-adjusted, log-transformed HDL cholesterol concentrations are shown as a function of rs5370 genotype with both sexes combined (“Total”). Overall, 894 G/G, 474 T/G, and 64 T/T individuals are represented using a box-and-whisker plot (P=.00001). Data are also shown for both sexes separately—525 G/G, 256 T/G, and 28 T/T males are represented (P=.14), and 369 G/G, 218 T/G, and 36 T/T females are represented (P=.00001). All three box-and-whisker plots were made by combining the family and case-control samples. By graphically displaying the median and the end of the 1st and 3rd quartiles, these plots provide a robust assessment of the associations observed. The American Journal of Human Genetics 2007 80, 673-682DOI: (10.1086/513286) Copyright © 2007 The American Society of Human Genetics Terms and Conditions