The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.

<h4>Background</h4>ABCA1 genetic variation is known to play a role in HDL-C levels and various studies have also implicated ABCA1 variation in cardiovascular risk. The functional ABCA1/R230C variant is frequent in the Mexican population and has been consistently associated with low HDL-C...

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Autores principales:	Teresa Villarreal-Molina, Carlos Posadas-Romero, Sandra Romero-Hidalgo, Erika Antúnez-Argüelles, Araceli Bautista-Grande, Gilberto Vargas-Alarcón, Eric Kimura-Hayama, Samuel Canizales-Quinteros, Juan Gabriel Juárez-Rojas, Rosalinda Posadas-Sánchez, Guillermo Cardoso-Saldaña, Aída Medina-Urrutia, María Del Carmen González-Salazar, Rocío Martínez-Alvarado, Esteban Jorge-Galarza, Alessandra Carnevale
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2012
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/792bb8f0c5e14517a3153b68e3eaeb02
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spelling	oai:doaj.org-article:792bb8f0c5e14517a3153b68e3eaeb022021-11-18T08:09:12ZThe ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.1932-620310.1371/journal.pone.0049285https://doaj.org/article/792bb8f0c5e14517a3153b68e3eaeb022012-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23152888/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>ABCA1 genetic variation is known to play a role in HDL-C levels and various studies have also implicated ABCA1 variation in cardiovascular risk. The functional ABCA1/R230C variant is frequent in the Mexican population and has been consistently associated with low HDL-C concentrations. Although it has been associated with other cardiovascular risk factors such as obesity and type 2 diabetes mellitus, it is not known whether it is associated with coronary artery disease (CAD).<h4>Aim</h4>The purpose of the study was to analyze whether the ABCA1/R230C variant is associated with premature CAD in a case-control association study (GEA or Genetics of Atherosclerotic Disease), and to explore whether BMI modulates the effect of the C230 allele on other metabolic traits using a population-based design.<h4>Results</h4>The C230 allele was significantly associated with both lower HDL-C levels and a lower risk of premature CAD as compared to controls (OR = 0.566; P(add) = 1.499×10(-5)). In addition, BMI modulated the effect of R230C on body fat distribution, as the correlation between BMI and visceral to subcutaneous adipose tissue (a metric of the propensity to store fat viscerally as compared to subcutaneously) was negative in RR homozygous individuals, but positive in premenopausal women bearing the C230 allele, with a statistically significant interaction (P = 0.005). BMI-R230C interaction was also significant for triglyceride levels in women regardless of their menopausal status (P = 0.036).<h4>Conclusion</h4>This is the first study assessing the effect of the R230C/ABCA1 variant in remature CAD. C230 was associated with both decreased HDL-C levels and a lower risk of premature CAD, and gender-specific BMI-R230C interactions were observed for different metabolic traits. These interactions may help explain inconsistencies in associations, and underscore the need to further analyze interactions of this functional and frequent variant with diet, exercise and other environmental factors.Teresa Villarreal-MolinaCarlos Posadas-RomeroSandra Romero-HidalgoErika Antúnez-ArgüellesAraceli Bautista-GrandeGilberto Vargas-AlarcónEric Kimura-HayamaSamuel Canizales-QuinterosJuan Gabriel Juárez-RojasRosalinda Posadas-SánchezGuillermo Cardoso-SaldañaAída Medina-UrrutiaMaría Del Carmen González-SalazarRocío Martínez-AlvaradoEsteban Jorge-GalarzaAlessandra CarnevalePublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 7, Iss 11, p e49285 (2012)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Teresa Villarreal-Molina Carlos Posadas-Romero Sandra Romero-Hidalgo Erika Antúnez-Argüelles Araceli Bautista-Grande Gilberto Vargas-Alarcón Eric Kimura-Hayama Samuel Canizales-Quinteros Juan Gabriel Juárez-Rojas Rosalinda Posadas-Sánchez Guillermo Cardoso-Saldaña Aída Medina-Urrutia María Del Carmen González-Salazar Rocío Martínez-Alvarado Esteban Jorge-Galarza Alessandra Carnevale The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.
description	<h4>Background</h4>ABCA1 genetic variation is known to play a role in HDL-C levels and various studies have also implicated ABCA1 variation in cardiovascular risk. The functional ABCA1/R230C variant is frequent in the Mexican population and has been consistently associated with low HDL-C concentrations. Although it has been associated with other cardiovascular risk factors such as obesity and type 2 diabetes mellitus, it is not known whether it is associated with coronary artery disease (CAD).<h4>Aim</h4>The purpose of the study was to analyze whether the ABCA1/R230C variant is associated with premature CAD in a case-control association study (GEA or Genetics of Atherosclerotic Disease), and to explore whether BMI modulates the effect of the C230 allele on other metabolic traits using a population-based design.<h4>Results</h4>The C230 allele was significantly associated with both lower HDL-C levels and a lower risk of premature CAD as compared to controls (OR = 0.566; P(add) = 1.499×10(-5)). In addition, BMI modulated the effect of R230C on body fat distribution, as the correlation between BMI and visceral to subcutaneous adipose tissue (a metric of the propensity to store fat viscerally as compared to subcutaneously) was negative in RR homozygous individuals, but positive in premenopausal women bearing the C230 allele, with a statistically significant interaction (P = 0.005). BMI-R230C interaction was also significant for triglyceride levels in women regardless of their menopausal status (P = 0.036).<h4>Conclusion</h4>This is the first study assessing the effect of the R230C/ABCA1 variant in remature CAD. C230 was associated with both decreased HDL-C levels and a lower risk of premature CAD, and gender-specific BMI-R230C interactions were observed for different metabolic traits. These interactions may help explain inconsistencies in associations, and underscore the need to further analyze interactions of this functional and frequent variant with diet, exercise and other environmental factors.
format	article
author	Teresa Villarreal-Molina Carlos Posadas-Romero Sandra Romero-Hidalgo Erika Antúnez-Argüelles Araceli Bautista-Grande Gilberto Vargas-Alarcón Eric Kimura-Hayama Samuel Canizales-Quinteros Juan Gabriel Juárez-Rojas Rosalinda Posadas-Sánchez Guillermo Cardoso-Saldaña Aída Medina-Urrutia María Del Carmen González-Salazar Rocío Martínez-Alvarado Esteban Jorge-Galarza Alessandra Carnevale
author_facet	Teresa Villarreal-Molina Carlos Posadas-Romero Sandra Romero-Hidalgo Erika Antúnez-Argüelles Araceli Bautista-Grande Gilberto Vargas-Alarcón Eric Kimura-Hayama Samuel Canizales-Quinteros Juan Gabriel Juárez-Rojas Rosalinda Posadas-Sánchez Guillermo Cardoso-Saldaña Aída Medina-Urrutia María Del Carmen González-Salazar Rocío Martínez-Alvarado Esteban Jorge-Galarza Alessandra Carnevale
author_sort	Teresa Villarreal-Molina
title	The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.
title_short	The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.
title_full	The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.
title_fullStr	The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.
title_full_unstemmed	The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.
title_sort	abca1 gene r230c variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (gea) study.
publisher	Public Library of Science (PLoS)
publishDate	2012
url	https://doaj.org/article/792bb8f0c5e14517a3153b68e3eaeb02
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The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease: the genetics of atherosclerotic disease (GEA) study.

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