Genetic analysis of a polymorphism in the human apolipoprotein A-I gene promoter: effect on plasma HDL-cholesterol levels.

Barre, Douglas Edward; Guerra, Rudy; Verstraete, Richard; Wang, Z.; Grundy, Scott M.; Cohen, Jonathan C.

doi:10.1016/s0022-2275(20)39972-7

Cited by 48 publications

(1 citation statement)

References 11 publications

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“…The mean value of each sterol (and the sterol-cholesterol ratio) was then compared in the two groups using a t -test. Second, for those polymorphisms that were associated with the plasma levels of one or more sterols with a nominal P Ͻ 0.05, the sterol values of siblings who carried the less common allele were compared with those of their siblings who were homozygotes for the common allele using a Wilcoxon test, as described previously (14).…”

Section: Methodsmentioning

confidence: 99%

Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8

Berge

Bergmann

Lütjohann

et al. 2002

Journal of Lipid Research

200

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The plasma concentrations of cholesterol precursor sterols and plant sterols vary over a 5-to 10-fold range among normolipidemic individuals, and provide indices of the relative rates of cholesterol synthesis and fractional absorption. In the present study, we examined the relative contributions of genetic and environmental factors to variation in the plasma concentrations and sterol-cholesterol ratios of five noncholesterol sterols, including the 5 ␣ -saturated derivative of cholesterol (cholestanol), two precursors in the cholesterol biosynthesis pathway (desmosterol and lathosterol), and two phytosterols (campesterol and sitosterol). Plasma sterol concentrations were highly stable in 30 individuals measured over a 48 week period. Regression of offspring sterol levels on the parental values indicated that plasma levels of all five noncholesterol sterols were highly heritable. Analysis of monozygotic and dizygotic twin pairs also indicated strong heritability of all five sterols. Two common sequence variations (D19H and T400K) in ABCG8 , an ABC half-transporter defective in sitosterolemia, were associated with lower concentrations of plant sterols in parents, and in their offspring. Taken together, these findings indicate that variation in the plasma concentrations of noncholesterol sterols is highly heritable, and that polymorphism in ABCG8 contributes to genetic variation in the plasma concentrations of plant sterols.

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Section: Methodsmentioning

confidence: 99%

Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8

Berge

Bergmann

Lütjohann

et al. 2002

Journal of Lipid Research

200

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Genetic association of five apolipoprotein polymorphisms with serum lipoprotein-lipid levels in African blacks

Kamboh¹,

Bunker²,

Aston³

et al. 1999

Genet. Epidemiol.

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Genetic studies carried out mainly in European and European‐derived populations have shown that common polymorphisms in genes coding for apolipoproteins are significant determinants of serum lipoprotein‐lipid levels variation. However, except for a few sporadic studies, the distribution of apolipoprotein polymorphisms and their association with serum lipoprotein‐lipid levels have not been evaluated systematically in African or African‐derived populations. In this investigation we have studied five apolipoprotein polymorphisms, including APOA1/MspI –75 bp, APOA1/MspI +83 bp, APOC3/PvuII, APOE, and APOH in 786 Africans (493 men, 293 women) from Nigeria. The sample is comprised of Nigerian civil servants consisting of 462 junior staff (less affluent) and 324 senior staff (more affluent) where staff status is a correlate of their socioeconomic status. We first examined genetic associations in the total sample stratified by gender to determine the role of apolipoprotein polymorphisms in affecting serum lipid profile in the general population, and then by staff status to evaluate possible gene‐environment interactions. In the total sample, the APOC3/PvuII polymorphism showed significant effect on HDL‐cholesterol (P = 0.029) and HDL3‐cholesterol (P = 0.009) in women, and the APOE polymorphism was significantly associated with total cholesterol (P = 0.031) and LDL‐cholesterol (P = 0.0006) in women. Multiple regression analyses showed that the APOC3/PvuII polymorphism accounts for about 2 and 3% of the variation in HDL‐cholesterol and HDL3‐cholesterol, respectively, in women; while the APOE polymorphism accounted for about 5 and 6% of the variation in total‐ and LDL‐cholesterol, respectively, in women. Whereas the association of the APOE polymorphism was independent of the staff status, the significant affect of the APOC3/PvuII polymorphism on HDL‐ and HDL3‐cholesterol was confined to senior staff women where it explained about 7% of their variation. We also observed an interaction between staff and the APOH polymorphism in affecting cholesterol levels. The APOH polymorphism showed significant association with total cholesterol (P = 0.010) and LDL‐cholesterol (P = 0.016) in senior staff women and explained about 7 and 5% of their phenotypic variations, respectively. These data indicate that gene‐environment interaction may play an important role in affecting serum lipid profile in African populations. Genet. Epidemiol. 16:205–222, 1999. © 1999 Wiley‐Liss, Inc.

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Clinical Aspects of Gout and Associated Disease States

Newcombe

2012

Gout

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Genetic analysis of a polymorphism in the human apolipoprotein A-I gene promoter: effect on plasma HDL-cholesterol levels.

Cited by 48 publications

References 11 publications

Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8

Heritability of plasma noncholesterol sterols and relationship to DNA sequence polymorphism in ABCG5 and ABCG8

Genetic association of five apolipoprotein polymorphisms with serum lipoprotein-lipid levels in African blacks

Clinical Aspects of Gout and Associated Disease States

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