Abstract
BackgroundThe association of ATP-binding cassette (ABC) transporter single nucleotide polymorphisms (SNPs) and serum lipid profiles is inconsistent. The present study was undertaken to detect the association of ABCG5/G8 SNPs and several environmental factors with serum lipid levels.Methodology/Principal FindingsGenotyping of the ABCG5 (rs4131229 and rs6720173) and ABCG8 (rs3806471 and rs4148211) SNPs was performed in 719 unrelated subjects of Mulao nationality and 782 participants of Han nationality. There were no differences in the genotypic and allelic frequencies of four SNPs between the two ethnic groups besides the genotypic frequencies of rs4131229 SNP in Han. The levels of triglyceride (TG), apolipoprotein (Apo) A1, and ApoA1/ApoB ratio (rs4131229); low-density lipoprotein cholesterol (LDL-C) and ApoB (rs6720173); high-density lipoprotein cholesterol (HDL-C), ApoA1, ApoB, and ApoA1/ApoB ratio (rs3806471); and HDL-C, ApoA1, and ApoA1/ApoB ratio (rs4148211) in Han were different among their genotypes (P<0.05–0.001). The levels of LDL-C (rs6720173) and ApoA1 (rs3806471) in Mulao were also different among their genotypes (P<0.05 for each). The levels of TC, TG, HDL-C, ApoA1, and ApoA1/ApoB ratio (rs4131229); LDL-C and ApoB (rs6720173); HDL-C, ApoA1, and ApoA1/ApoB ratio (rs3806471); and TG, HDL-C, ApoA1, and ApoA1/ApoB ratio (rs4148211) in Han males; and ApoA1/ApoB ratio (rs4131229); LDL-C, ApoB, and ApoA1/ApoB ratio (rs3806471); HDL-C, ApoA1, and ApoA1/ApoB ratio (rs4148211) in Han females were different between the genotypes (P<0.05–0.001). The levels of LDL-C in Mulao females were also different between GG and GC/CC genotypes of rs6720173 (P<0.05). The correlation between serum lipid parameters and genotypes of four SNPs was observed in Han, especially in Han males. Serum lipid parameters were also correlated with several environmental factors.ConclusionsThe associations of four ABCG5/G8 SNPs and serum lipid levels are different between the Mulao and Han populations, or between males and females, suggesting that there may be a racial/ethnic- and/or sex-specific association between ABCG5/G8 SNPs and some serum lipid parameters.
Highlights
Cardiovascular disease (CVD) is the most common cause of fatality, disability and economic loss, in industrialized nations
The associations of four ABCG5/G8 single nucleotide polymorphisms (SNPs) and serum lipid levels are different between the Mulao and Han populations, or between males and females, suggesting that there may be a racial/ethnic- and/or sex-specific association between ABCG5/G8 SNPs and some serum lipid parameters
There were no significant differences in the levels of age, weight, waist circumference, systolic blood pressure, diastolic blood pressure, pulse pressure, blood glucose, total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), ApoA1; the ratio of ApoA1 to ApoB; the percentages of subjects who smoked cigarettes; and the ratio of male to female between the two ethnic groups (P.0.05 for all)
Summary
Cardiovascular disease (CVD) is the most common cause of fatality, disability and economic loss, in industrialized nations. GWA studies discovered a number of novel loci that influence serum lipid phenotypes [11,13,14] Two of these GWA studies supported the importance of ATP-binding cassette (ABC) transporter G5 (ABCG5) and G8 (ABCG8) loci in lipid metabolism, revealing associations of serum lipid levels and CVD risk with ABCG5 [15] and contribution of ABCG8 to polygenic dyslipidemia [11]. Disruption of either gene in mice results in phenotypes similar to patients with sitosterolemia, such as increased plant sterol levels in plasma and tissues and decreased sterol secretion into bile [24,25,26]. The present study was undertaken to detect the association of ABCG5/G8 SNPs and several environmental factors with serum lipid levels
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