Effect of Two Common Polymorphisms in the ATP Binding Cassette Transporter A1 Gene on HDL-Cholesterol Concentration

Woll, Petter S.; Hanson, Naomi Q.; Arends, Valerie L.; Tsai, Michael Y.

doi:10.1373/clinchem.2004.047126

Cited by 17 publications

(11 citation statements)

References 18 publications

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“…Some of the earlier reports are consistent with our results (Woll et al 2005;Pasdar et al 2007;Frikke-Schmidt et al 2008), however, some studies have shown different results (Yamakawa-Kobayashi et al 2003;Porchay et al 2006;Benton et al 2007;Miller et al 2007). Nevertheless, we could not find any correlation between R219K polymorphism and lipid profile except in elevated ApoA1 levels.…”

Section: Discussionsupporting

confidence: 93%

Association of ATP-binding cassette transporter-A1 polymorphism with apolipoprotein AI level in Tehranian population

Halalkhor

Mesbah‐Namin

Daneshpour³

et al. 2011

J Genet

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Section: Discussionsupporting

confidence: 93%

Association of ATP-binding cassette transporter-A1 polymorphism with apolipoprotein AI level in Tehranian population

Halalkhor

Mesbah‐Namin

Daneshpour³

et al. 2011

J Genet

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“…It has been well documented that polymorphisms in these genes are associated with changes in HDL-C concentrations (9–11, 13, 14, 19, 22). The differences in HDL-C concentrations associated with these polymorphisms, however, are not reliable predictors of their potential cardiovascular benefit (9, 10, 19, 24). In the current study, we measured lipoprotein subclasses by NMR to determine whether additional information gained from such measurement yields insights not provided by conventional lipoprotein measurements.…”

Section: Discussionmentioning

confidence: 99%

“…The ABCA1 1051G/A (rs#2230806) and −565C/T (previously designated as −477) (rs#2422493) polymorphisms were genotyped as described by Woll et al (10) and CETP TaqIB (rs#708272), −2505C/A, −629C/A (rs#1800775), R451Q (rs#1800777), and A373P (rs#5880) polymorphisms as described (15–18). …”

Section: Methodsmentioning

confidence: 99%

Associations of Genetic Variants in ATP-Binding Cassette A1 and Cholesteryl Ester Transfer Protein and Differences in Lipoprotein Subclasses in the Multi-Ethnic Study of Atherosclerosis

Tsai

Sharrett

et al. 2009

Clinical Chemistry

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BACKGROUND ATP-binding cassette A1 (ABCA1) and cholesteryl ester transfer protein (CETP) play important roles in the reverse cholesterol transport pathway. The associations of ABCA1 and CETP polymorphisms with lipoprotein subclasses have not been extensively studied. METHODS We genotyped 2 ABCA1 and 5 CETP polymorphisms in 999 participants of the Multi-Ethnic Study of Atherosclerosis (MESA) and studied their associations with HDL and LDL subclass particle concentrations, measured by nuclear magnetic resonance spectroscopy. RESULTS ABCA1 and CETP polymorphisms were associated with different and distinct changes in lipoprotein subclass concentrations. The ABCA1 1051G/A AA genotype, previously found to be associated with cardioprotective effects in this cohort, was associated with a 5.5% higher concentration of small HDL particles (P = 0.024). The CETP TaqIB B2B2, −2505C/A AA, and −629C/A AA genotypes, previously demonstrated to lack cardioprotective effects, were associated with 15.2%, 15.4%, and 11.7% higher HDL cholesterol concentrations, respectively, and 36.5%, 40.7%, and 25.4% higher large HDL particle concentrations (P < 0.0001). The minor alleles of the A373P and R451Q polymorphisms were associated with lower large HDL particle concentrations. CONCLUSIONS Our study of the influence of ABCA1 and CETP genetic variants on lipoprotein subclasses demonstrates the importance of interpreting lipoprotein subclasses within the context of the biochemical processes involved in the alterations. In the case of HDL, the study of subclass particle numbers and sizes may not be sufficiently informative. Assays for HDL function may be needed to supplement quantification of HDL cholesterol and HDL particle numbers and sizes.

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“…The SNPs used were rs2230806 (also designated as rs2234884) which encodes variant R219K (c.969A>G, numbering according to GenBank reference NM_005502) with a reported ~25% minor allele frequency in Caucasian populations [5,7]; rs2066718 which is a V771M (c. 2624A>G) variant with a reported~3% minor allele frequency [5,7]; rs2230808 which encodes a R1587K (c.5073A>G) variant with a reported 26% minor allele frequency [5,7], and finally rs2422493 which is a 5−UTR polymorphism located at −477 in the promoter with a reported 46% minor allele frequency [23,25]. Subsequent to us choosing these SNPs, rs2230808 and rs2066718 variants were reported to be associated with variability in plasma HDL levels [7][8][9] and with plasma cholesterol levels; which further validated their use in this association study.…”

Section: Methodsmentioning

confidence: 99%

ABCA1 polymorphisms and Alzheimer's disease

Vrièze

Compton

Womick

et al. 2007

Neuroscience Letters

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In our search for genetic factors related to the development of Alzheimer's disease, we have genotyped 332 pedigrees for 3 coding polymorphisms in the ABCA1 gene, two of which are known to alter plasma cholesterol levels, as well as a non-coding polymorphism within the promoter. We show an apparent weak association of rs2230806 (p-value= 0.01) with the disease in a sibpair series of Alzheimer's disease that had shown previously evidence for linkage to the chromosome 9 locus where ABCA1 maps.

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Effect of Two Common Polymorphisms in the ATP Binding Cassette Transporter A1 Gene on HDL-Cholesterol Concentration

Cited by 17 publications

References 18 publications

Association of ATP-binding cassette transporter-A1 polymorphism with apolipoprotein AI level in Tehranian population

Association of ATP-binding cassette transporter-A1 polymorphism with apolipoprotein AI level in Tehranian population

Associations of Genetic Variants in ATP-Binding Cassette A1 and Cholesteryl Ester Transfer Protein and Differences in Lipoprotein Subclasses in the Multi-Ethnic Study of Atherosclerosis

ABCA1 polymorphisms and Alzheimer's disease

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