A common Ile 823 Met variant of ATP-binding cassette transporter A1 gene (ABCA1) alters high density lipoprotein cholesterol level in Japanese population

Harada, Tomohiro; Imai, Yasushi; Nojiri, Takefumi; Morita, Hiroyuki; Hayashi, Doubun; Maemura, Koji; Fukino, Keiko; Kawanami, Daiji; Nishimura, Go; Tsushima, Kensuke; Monzen, Koshiro; Yamazaki, Tadashi; Mitsuyama, Satoshi; Shintani, Toshimichi; Watanabe, Narimasa; Seto, Kumiko; Sugiyama, Takao; Nakamura, Fúmitaka; Ohno, Minoru; Hirata, Yasunobu; Yamazaki, Tsutomu; Nagai, Ryozo

doi:10.1016/s0021-9150(03)00135-7

Cited by 46 publications

(43 citation statements)

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“…The present study revealed that the ABCA1I823M polymorphism was not associated with the HDL-C level, inconsistent with a previous report (Harada et al 2003). This discrepancy may be due to the study design, since a small-scale association study has relatively weak statistical power.…”

Section: Discussioncontrasting

confidence: 99%

“…Moreover, the frequency of the I823 allele in the previous study (allele frequency 0.492) was different from that in the Suita population (0.36) and JSNP information (0.38). Thus, the subjects in the previous study did not seem to be representative of the general Japanese population, as noted by Harada et al (2003).…”

Section: Discussionmentioning

confidence: 81%

“…2), we selected nine SNPs for genotyping from the public database (JSNP, http://snp.ims.u-tokyo.ac.jp) (Iida et al 2001;Hirakawa et al 2002). Well-known common variants, ABCA1 R219K and I823M, were also selected (Wang et al 2000;Clee et al 2001;Harada et al 2003).…”

Section: Dna Studiesmentioning

confidence: 99%

“…Patients with TD show characteristic HDL deficiency, defective apolipoprotein-mediated phospholipid and cholesterol efflux from cells, and the accumulation of macrophage foam cells in various tissues, including arteries (Clifton-Bligh et al 1972). Recent epidemiological studies have reported that ABCA1 polymorphisms were associated with the HDL-C level (Wang et al 2000;Clee et al 2001;Lutucuta et al 2001;Harada et al 2003). However, few of these findings have been replicated, and there are inconsistencies among previous association studies.…”

Section: Introductionmentioning

confidence: 99%

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A promoter variant of the ATP-binding cassette transporter A1 gene alters the HDL cholesterol level in the general Japanese population

et al. 2004

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To investigate the effects of polymorphisms in the ATP-binding cassette transporter A1 (ABCA1) gene on the high-density lipoprotein cholesterol (HDL-C) level and the incidence of myocardial infarction (MI), we performed association studies. Sequence analysis identified 14 polymorphisms in the promoter region of ABCA1. After considering linkage disequilibrium, three polymorphisms in the promoter region and 11 polymorphisms from the JSNP database were determined in 1,880 subjects recruited from the Suita Study, representing the general population in Japan. We evaluated the association between the ABCA1 genotype and HDL-C level adjusted not only for standard factors, but also for genetic factors including ApoA1 and ApoE genotypes. Of the 14 polymorphisms tested, the G()273)C (P=0.0074), C()297)T (P=0.0195), and IMS-JST071749(P=0.0093) polymorphisms were significantly associated with the HDL-C level in the Suita population. We could reconfirm that the G()273)C genotype was influential in another set of subjects (P=0.0310, n=743). However, the distribution of the ABCA1 G()273)C genotype in subjects with MI (n=598) was not different from that in the control population (n=801). These results indicate that ABCA1 G()273)C has a significant effect on the HDL-C level in the general Japanese population, but not on the incidence of MI.

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Section: Discussioncontrasting

confidence: 99%

Section: Discussionmentioning

confidence: 81%

Section: Dna Studiesmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A promoter variant of the ATP-binding cassette transporter A1 gene alters the HDL cholesterol level in the general Japanese population

et al. 2004

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“…ABCA1 in macrophages within the arterial wall facilitates removal of cholesterol and is likely to have antiatherogenic effects. Therefore, genetic variation in ABCA1 could influence the speed by which atherosclerosis develops, and thus the risk of IHD, exactly as was observed in the present study.Several studies have reported associations between V825I/ I883M and increased plasma HDL-C levels 8,15,16 and associations between R1587K and a decreased HDL-C or apoAI. 8,14,17 For in silico prediction of ABCA1 SNPs please see the Data Supplements Expanded Results.…”

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confidence: 99%

Genetic Variation in ABCA1 Predicts Ischemic Heart Disease in the General Population

Frikke‐Schmidt

Nordestgaard

Jensen

et al. 2008

ATVB

121

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Objective-We tested the hypothesis that 6 nonsynonymous single nucleotide polymorphisms (SNPs) in ATP-BindingCassette transporter A1 (ABCA1) affect risk of ischemic heart disease (IHD) in the general population. Methods and Results-We genotyped 9259 individuals from the Danish general population followed for 25 years. Two SNPs (V771M and V825I) were previously associated with increases in HDL-C, 1 (R1587K) with decreased HDL-C, whereas 3 (R219K, I883M and E1172D) did not affect HDL-C levels. Despite this, 5 out of 6 SNPs (V771M, V825I, I883M, E1172D, R1587K) predicted increased risk of IHD. Similar results were obtained in a verification sample with 932 IHD cases versus 7999 controls. A stepwise regression approach identified V771M, I883M, and E1172D as the most important predictors of IHD and additive effects on IHD risk were present for V771M/I883M and I883M/E1172D pairs. Conclusions-We show that 3 of 6 nonsynonymous SNPs in ABCA1 predict risk of IHD in the general population.(Arterioscler Thromb Vasc Biol. 2008;28:180-186.)Key Words: atherosclerosis Ⅲ cardiovascular diseases Ⅲ genetics Ⅲ lipids Ⅲ lipoproteins I schemic heart disease (IHD) is the most common cause of death in developed countries, 1 and a low level of plasma high-density lipoprotein cholesterol (HDL-C) is a major risk factor for IHD in the general population. 2 An important atheroprotective property of the HDL particle is thought to be its key function in reverse cholesterol transport mobilizing cellular cholesterol from arterial wall macrophages to lipid poor plasma apolipoproteins, a transport that is mediated by the transmembrane ATP-BindingCassette transporter A1 (ABCA1). 3 Mutations in the ABCA1 gene cause rare mendelian HDL deficiency syndromes characterized in the homozygous form by almost complete absence of HDL particles in plasma, but only a modest if any increase in risk of IHD, and in the heterozygous form by half-normal HDL-C levels. 4 -7 Recently, we and others have shown that both rare and common variants in the ABCA1 gene also contribute to HDL-C levels in the general population. 8,9 Whether common genetic variation in ABCA1 predicts risk of IHD in the general population is currently unknown.This study was performed to test the hypothesis that 6 nonsynonymous single nucleotide polymorphisms (SNPs) in ABCA1 affect risk of IHD in the general population. Methods Subjects General Population SampleThe Copenhagen City Heart Study is a prospective study of the Danish general population initiated in 1976 to 1978 with follow-up examinations in 1981 to 1983 and 1991 to 1994. 10,11 Individuals were selected based on the Central Population Register Code to reflect the adult Danish general population aged 20 to 80ϩ years. In the present study we included 9259 individuals from the 1991 to 1994 examination, whom we genotyped for all nonsynonymous SNPs (R219K, V771M, V825I, I883M, E1172D, R1587K) identified by resequencing ABCA1 in 190 individuals of Danish ancestry. 8 Information on diagnosis of IHD (nϭ1170; World Health Organization; Inte...

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Common gene polymorphism in ATP‐binding cassette transporter A1 and coronary artery disease: A genetic association study and a structural analysis

Karimian

Momeni

Farmohammadi

et al. 2020

J of Cellular Biochemistry

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A common Ile 823 Met variant of ATP-binding cassette transporter A1 gene (ABCA1) alters high density lipoprotein cholesterol level in Japanese population

Cited by 46 publications

References 29 publications

A promoter variant of the ATP-binding cassette transporter A1 gene alters the HDL cholesterol level in the general Japanese population

A promoter variant of the ATP-binding cassette transporter A1 gene alters the HDL cholesterol level in the general Japanese population

Genetic Variation in ABCA1 Predicts Ischemic Heart Disease in the General Population

Common gene polymorphism in ATP‐binding cassette transporter A1 and coronary artery disease: A genetic association study and a structural analysis

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