ABCMdb

PMID: 21315358

Aguilar-Salinas CA, Canizales-Quinteros S, Rojas-Martinez R, Mehta R, Rodriguez-Guillen R, Ordonez-Sanchez ML, Riba L, Tusie-Luna MT
The non-synonymous Arg230Cys variant (R230C) of the ATP-binding cassette transporter A1 is associated with low HDL cholesterol concentrations in Mexican adults: a population based nation wide study.
Atherosclerosis. 2011 May;216(1):146-50. Epub 2011 Jan 22., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCA1 p.Arg230Cys ABCA1 p.Arg230Cys ABCA1 p.Arg230Cys ABCA1 p.Arg230Cys Atherosclerosis 216 (2011) 146-150 Contents lists available at ScienceDirect Atherosclerosis journal homepage: www.elsevier.com/locate/atherosclerosis The non-synonymous Arg230Cys variant (R230C) of the ATP-binding cassette transporter A1 is associated with low HDL cholesterol concentrations in Mexican adults: A population based nation wide study Carlos A. Aguilar-Salinasa,* , Samuel Canizales-Quinterosb , Rosalba Rojas-Martínezc , Roopa Mehtaa , Rosario Rodriguez-Guillénb , María Luisa Ordo˜nez-Sanchezb , Laura Ribab , María Teresa Tusié-Lunab a Departamento de Endocrinología y Metabolismo del Instituto Nacional de Ciencias Médicas y Nutrición "Salvador Zubirán", Vasco de Quiroga 15, Mexico14000 D.F., Mexico b Unidad de Biología Molecular y Medicina Genómica, Instituto Nacional de Ciencias Médicas y Nutrición, Instituto de Investigaciones Biomédicas de la Universidad Nacional Autónoma de México, México D.F., Mexico c Instituto Nacional de Salud Publica, Cuernavaca, Mor., Mexico a r t i c l e i n f o Article history: Received 7 August 2010 Received in revised form 24 September 2010 Accepted 5 October 2010 Available online 22 January 2011 Keywords: High density lipoproteins ABCA1 Mexico Native Americans a b s t r a c t Objective: To search for an association between the non-synonymous Arg230Cys variant (R230C) of the ATP-binding cassette transporter A1 and low HDL cholesterol levels in a Mexican, population-based nation wide survey. Login to comment 4 ABCA1 p.Arg230Cys The R230C variant was genotyped using TaqMan assays. Login to comment 5 ABCA1 p.Arg230Cys Results: In individuals with the R230C/C230C genotypes (39.03 mg/dl (36.63-41.43)) lower HDL-C levels (p < 0.001) were observed compared to those with the R230R genotype (44.7 mg/dl (43.31-46.24)). Login to comment 10 ABCA1 p.Arg230Cys Conclusion: The non-synonymous Arg230Cys variant of ABCA1 is associated with low levels of HDL cholesterol levels in Mexican adults. Login to comment 18 ABCA1 p.Arg230Cys ABCA1 p.Arg230Cys This is the case for the non-synonymous Arg230Cys variant (R230C, rs9282541) of the ATP-binding cassette transporter A1 (ABCA1) gene in Amerindian populations. Login to comment 25 ABCA1 p.Arg230Cys The R230C variant was strongly associated with hypoalphalipoproteinemia in two different Mexican clinic-based cohorts [2,5]. Login to comment 26 ABCA1 p.Arg230Cys The R230C/C230C genotypes were significantly more frequent in the low HDL-C (≤10 percentile of the Mexican population) than in the high HDL-C group (≥90 percentile) (45% vs. 2.9%, p = 0.00006, p = 0.0005 after adjusting for admixture). Login to comment 28 ABCA1 p.Arg230Cys The R230C variant decreases the activity of the ABCA1 transporter in vitro by 30% [3]. Login to comment 31 ABCA1 p.Arg230Cys In this report we extend our observations and confirm the association between the R230C variant of the ABCA1 and low HDL 0021-9150/$ - see front matter (c) 2011 Elsevier Ireland Ltd. All rights reserved. Login to comment 111 ABCA1 p.Arg230Cys ABCA1 p.Arg230Cys ABCA1 p.Arg230Cys ABCA1 p.Arg230Cys Discussion Our data confirms the association between the non-synonymous Arg230Cys variant (R230C, rs9282541) of the ATP-binding cassette transporter A1 gene and hypoalphalipoproteinemia. Login to comment 127 ABCA1 p.Val825Ile Only two sequence variants (I883 M and V825I) were associated with plasma HDL-C levels in both white men and black men, but the effect of these variants on HDL-C levels was modest (<4 mg/dl). Login to comment 130 ABCA1 p.Arg230Cys The populations sampled have generally been com- Table 2 The effect of the R230C/C230C of ATP-binding cassette transporter A1 gene on the HDL cholesterol concentration is greater in males. Login to comment 131 ABCA1 p.Arg230Cys R230R R230C C230C Absolute difference between C230 and R230R Men HDL cholesterol 42.2(40.6-43.8) 34.8(30.8-38.8)* 31.6(20.6-42.6)* -7.50 ± 2.2* HDL cholesterol adjusted for body mass index 42.2(40.61-43.85) 34.8(30.9-38.7)* 31.4(20.3-42.5)* -7.46 ± 2.1* HDL cholesterol adjusted for waist circumference 42.1(40.5-43.8) 34.9(30.9-41.3)* 30.7(20.2-41.3)* -7.33 ± 2.1* HDL cholesterol adjusted for waist circumference and body mass index 42.1(40.5-43.8) 34.9(30.9-38.8)* 30.7(20.1-41.3)* -7.34 ± 2.1* Women HDL cholesterol 47.2(45.1-49.3) 42.8(41.2-44.3)* 40.9(37.2-44.6)* -4.64 ± 1.0* HDL cholesterol adjusted for body mass index 47.2(45.1-49.3) 42.8(41.2-44.3)* 40.9(37.2-44.6)* -4.61 ± 1.0* HDL cholesterol adjusted for waist circumference 46.8(44.7-48.9) 42.5(41.0-44.1)* 42.1(38.3-45.7)* -4.33 ± 1.0* HDL cholesterol adjusted for waist circumference and body mass index 46.8(44.7-48.9) 42.5(41.0-44.1)* 42.0(38.3-45.7)* -4.34 ± 1.0* Data are medians (95%CI) or medians ± standard error. Login to comment 132 ABCA1 p.Arg230Cys * p-Value < 0.001 comparing R230C or C230C vs. R230R. Login to comment 139 ABCA1 p.Arg230Cys The Arg230Cys variant of the ABCA1 is a population-specific allele that has been shown to be associated with low HDL cholesterol levels in three case/control studies [2,4] and in a genome wide association study [21]. Login to comment 144 ABCA1 p.Arg230Cys The R230C variant decreases the activity of the ABCA1 transporter in vitro by 30%. Login to comment 146 ABCA1 p.Arg230Cys In addition, the proportion of larger HDL-C particles is smaller and the proportion of smaller HDL-C particles increases in R230C/C230C compared to R230R individuals [6]. Login to comment