Department of Cardiology, Institute of Cardiovascular Diseases, The First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, People's Republic of China.
PLoS One. 2012;7(5):e37972. doi: 10.1371/journal.pone.0037972. Epub 2012 May 24.
The 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 FINDINGS: Genotyping 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.
The 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.
ATP 结合盒（ABC）转运蛋白单核苷酸多态性（SNP）与血清脂质谱之间的关联并不一致。本研究旨在检测 ABCG5/G8SNP 与几种环境因素与血清脂质水平之间的关联。
方法/主要发现：对 719 名无血缘关系的毛南族和 782 名汉族参与者的 ABCG5（rs4131229 和 rs6720173）和 ABCG8（rs3806471 和 rs4148211）SNP 进行基因分型。除汉族 rs4131229 SNP 的基因型频率外，两个民族之间四个 SNP 的基因型和等位基因频率没有差异。在汉族中，甘油三酯（TG）、载脂蛋白（Apo）A1 和 ApoA1/ApoB 比值（rs4131229）；低密度脂蛋白胆固醇（LDL-C）和 ApoB（rs6720173）；高密度脂蛋白胆固醇（HDL-C）、ApoA1、ApoB 和 ApoA1/ApoB 比值（rs3806471）；以及 HDL-C、ApoA1 和 ApoA1/ApoB 比值（rs4148211）的基因型存在差异（P<0.05-0.001）。毛南族的 LDL-C（rs6720173）和 ApoA1（rs3806471）水平的基因型也存在差异（P<0.05）。汉族男性 TC、TG、HDL-C、ApoA1 和 ApoA1/ApoB 比值（rs4131229）；LDL-C 和 ApoB（rs6720173）；HDL-C、ApoA1 和 ApoA1/ApoB 比值（rs3806471）；以及 TG、HDL-C、ApoA1 和 ApoA1/ApoB 比值（rs4148211）；汉族女性 ApoA1/ApoB 比值（rs4131229）；LDL-C、ApoB 和 ApoA1/ApoB 比值（rs3806471）；HDL-C、ApoA1 和 ApoA1/ApoB 比值（rs4148211）的基因型之间存在差异（P<0.05-0.001）。毛南族女性 LDL-C 基因型 GG 和 GC/CC 之间也存在差异（rs6720173，P<0.05）。汉族人群中观察到血清脂质参数与四个 SNP 基因型之间的相关性，尤其是汉族男性。血清脂质参数与几种环境因素也存在相关性。
ABCG5/G8SNP 与血清脂质水平之间的关联在毛南族和汉族人群之间，或在男性和女性之间存在差异，表明 ABCG5/G8SNP 与某些血清脂质参数之间可能存在种族/民族特异性和/或性别特异性关联。
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