Common Genetic Variation in
            <i>ABCA1</i>
            Is Associated With Altered Lipoprotein Levels and a Modified Risk for Coronary Artery Disease

Clee, Susanne M.; Zwinderman, A. H.; Engert, James C.; Zwarts, K.Y.; Molhuizen, H.O.F.; Roomp, Kirsten; Jukema, J. Wouter; Wijland, M. Van; Dam, Marjel van; Hudson, Thomas J.; Brooks-Wilson, A; Genest, Jacques; Kastelein, J.J.P.; Hayden, Michael R.

doi:10.1161/01.cir.103.9.1198

Cited by 266 publications

(245 citation statements)

References 25 publications

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“…To our knowledge, no previous study has reported the prevalence of ABCA1 gene mutations in a population with low HDL-C. Our results may be interpreted to mean that mutations in the ABCA1 gene, which have been found in patients with TD and FHA, are not present to a high degree in the general population with low HDL-C. This has also been suggested previously by Clee and coworkers (10,11 ). A weakness of the current study is in limiting the screening to only 7 of the initially described mutations, whereas Ͼ30 mutations have now been reported in the ABCA1 gene (4 -9 ).…”

Section: To the Editorsupporting

confidence: 87%

Absence of ABCA1 Mutations in Individuals with Low Serum HDL-Cholesterol

2003

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Section: To the Editorsupporting

confidence: 87%

Absence of ABCA1 Mutations in Individuals with Low Serum HDL-Cholesterol

2003

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“…These findings have established that inefficient RCT by HDLs is a causal factor in atherogenesis in such individuals. However, because ABCA1 transporter mutations are rare and a common genetic variation at the locus contributes only slightly to typical variations in HDL-cholesterol (25,26 ), they provide no guidance on the extent to which RCT underlies the association between HDL-cholesterol and CHD in the general population. To address this question, we have tested by case-control study the hypothesis that clinically manifested CHD is associated more strongly with pre-␤-HDL concentration than with HDL-cholesterol in Japanese men.…”

mentioning

confidence: 99%

Association of Coronary Heart Disease with Pre-β-HDL Concentrations in Japanese Men

Hashimoto¹,

Kujiraoka²,

Egashira³

et al. 2004

Clinical Chemistry

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Background:In individuals heterozygous for ABCA1 transporter mutations, defective reverse cholesterol transport (RCT) causes low HDL-cholesterol and premature coronary heart disease (CHD). However, the extent to which impaired RCT underlies premature CHD in others with low HDL-cholesterol is not known. The primary acceptors of cell cholesterol are a minor subclass of lipid-poor pre-␤-HDLs. These are generated during remodeling of ␣-HDLs, which account for almost all HDL-cholesterol. We studied the strength of the association of CHD with pre-␤-HDL concentrations in Japanese men. Methods: Blood was collected from 42 men with clinical CHD and 44 healthy controls 40 -70 years of age. Pre-␤-HDL was assayed by crossed immunoelectrophoresis. Results: Cases had lower HDL-cholesterol (؊23%), total apolipoprotein A-I (؊26%), and pre-␤-HDL (؊55%; all P <0.001) concentrations; lower pre-␤-HDL:␣-HDL ratios (؊45%; P <0.001); and higher plasma triglycerides (20%; P <0.03) than the controls. On stepwise logistic regression, CHD was associated most strongly with pre-␤-HDL concentrations. On ROC analysis, pre-␤-

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“…Several common polymorphisms have been reported in the coding and promoter regions of the ABCA1 gene [25,26]. Some are associated with altered plasma lipid levels and with the development of CAD.…”

Section: Introductionmentioning

confidence: 99%

“…For example, the R219K polymorphism is associated with progression of atherosclerosis and with elevated triglyceride (TG) and HDL-C levels in familial hypercholesterolemia patients from Spain [27]. Other single-nucleotide polymorphisms in the coding region had milder effects on plasma lipids and atherosclerosis [25].…”

Section: Introductionmentioning

confidence: 99%

Linkage Analysis by a Transmission/Disequilibrium Test of Russian Sibling Pairs with Coronary Artery Disease

Tupitsina

Slominsky

Yufereva

et al. 2007

Balkan Journal of Medical Genetics

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We studied the association between coronary artery disease (CAD) and polymorphisms of the ABCA1, ACE, AGT, eNOS and EFNB3 genes in 85 Russian patients with angiography-proven CAD and 100 of their siblings. No gene analyzed had a z-score value of more than 2.47 for CAD or for its main clinical presentations due to sibling transmission/ disequilibrium test (S-TDT). However, the DD genotype of ACE is significantly more prevalent in siblings with CAD [p = 0.025, relative risk (RR) 2.8], angina (p = 0.028, RR = 3.3) and myocardial infarction (MI) (p = 0.018, RR = 5.5). An increased risk of CAD, and its main manifestations, was associated with the R1587 allele of the ABCA1 gene: the RR for developing CAD was 4.88, for MI 6.18, and for angina 3.69 for siblings who were carriers of the R1587R and R1587K genotypes. Index of stenosis was significantly higher in probands with the K219K and R219K genotypes (p = 0.001). The combination of genotype K219K with R219K was more frequent among siblings with CAD (p = 0.044, RR = 2.38), arterial hypertension (p = 0.023, RR = 2.87) and angina (p = 0.027, RR = 3.3). Thus, none

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Common Genetic Variation in ABCA1 Is Associated With Altered Lipoprotein Levels and a Modified Risk for Coronary Artery Disease

Abstract: These data suggest that common variation in ABCA1 significantly influences plasma lipid levels and the severity of CAD.

Cited by 266 publications

References 25 publications

Absence of ABCA1 Mutations in Individuals with Low Serum HDL-Cholesterol

Absence of ABCA1 Mutations in Individuals with Low Serum HDL-Cholesterol

Association of Coronary Heart Disease with Pre-β-HDL Concentrations in Japanese Men

Linkage Analysis by a Transmission/Disequilibrium Test of Russian Sibling Pairs with Coronary Artery Disease

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