Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, 22 Shuangyong Road, Nanning 530021, Guangxi, People's Republic of China.
Lipids Health Dis. 2011 Feb 23;10:34. doi: 10.1186/1476-511X-10-34.
Several common genetic polymorphisms in the low density lipoprotein receptor (LDL-R) gene have associated with modifications of serum total cholesterol (TC) and low density lipoprotein cholesterol (LDL-C) levels, but the results are not consistent in different populations. Bai Ku Yao is a special subgroup of the Yao minority in China. The present study was undertaken to detect the association of LDL-R gene Ava Ⅱ polymorphism and serum lipid levels in the Guangxi Bai Ku Yao and Han populations.
A total of 1024 subjects of Bai Ku Yao and 792 participants of Han Chinese were randomly selected from our previous stratified randomized cluster samples. Genotyping of the LDL-R gene Ava Ⅱ polymorphism was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.
The levels of serum TC, high density lipoprotein cholesterol (HDL-C), LDL-C, apolipoprotein (Apo) A1 and the ratio of ApoA1 to ApoB were lower in Bai Ku Yao than in Han (P < 0.01 for all). The frequency of A⁻ and A+ alleles was 65.5% and 34.5% in Bai Ku Yao, and 80.7% and 19.3% in Han (P < 0.001); respectively. The frequency of A⁻A⁻, A⁻A+ and A+A+ genotypes was 42.6%, 45.9% and 11.5% in Bai Ku Yao, and 64.9%, 31.6% and 3.5% in Han (P < 0.001); respectively. There was also significant difference in the genotypic frequencies between males and females in Bai Ku Yao (P <0.05), and in the genotypic and allelic frequencies between normal LDL-C (≤ 3.20 mmol/L) and high LDL-C (> 3.20 mmol/L) subgroups in Bai Ku Yao (P < 0.05 for each) and between males and females in Han (P < 0.05 for each). The levels of LDL-C in males and TC and HDL-C in females were different among the three genotypes (P < 0.05 for all) in Bai Ku Yao, whereas the levels of HDL-C in males and HDL-C and ApoA1 in females were different among the three genotypes (P < 0.05-0.001) in Han. The subjects with A+A+ genotype had higher serum LDL-C, TC, HDL-C or ApoA1 levels than the subjects with A-A+ and A⁻A⁻ genotypes. Spearman rank correlation analysis revealed that the levels of LDL-C in Bai Ku Yao and HDL-C in Han were correlated with genotypes (P < 0.05 and P < 0.01; respectively).
The association of LDL-R gene Ava Ⅱ polymorphism and serum lipid levels is different between the Bai Ku Yao and Han populations. The discrepancy might partly result from different LDL-R gene Ava Ⅱ polymorphism or LDL-R gene-environmental interactions.
低密度脂蛋白受体（LDL-R）基因中的几个常见遗传多态性与血清总胆固醇（TC）和低密度脂蛋白胆固醇（LDL-C）水平的改变有关，但在不同人群中的结果并不一致。白裤瑶是中国瑶族的一个特殊亚群。本研究旨在检测 LDL-R 基因 Ava Ⅱ多态性与广西白裤瑶和汉族人群血清脂质水平的相关性。
我们从之前的分层随机聚类样本中随机选择了 1024 名白裤瑶和 792 名汉族参与者。通过聚合酶链反应和限制性片段长度多态性结合凝胶电泳检测 LDL-R 基因 Ava Ⅱ多态性，并通过直接测序进行验证。
与汉族相比，白裤瑶的血清 TC、高密度脂蛋白胆固醇（HDL-C）、LDL-C、载脂蛋白（Apo）A1 和 ApoA1/ApoB 比值均较低（均 P<0.01）。白裤瑶中 A⁻和 A+等位基因的频率分别为 65.5%和 34.5%，汉族中分别为 80.7%和 19.3%（均 P<0.001）。白裤瑶中 A⁻A⁻、A⁻A+和 A+A+基因型的频率分别为 42.6%、45.9%和 11.5%，汉族中分别为 64.9%、31.6%和 3.5%（均 P<0.001）。白裤瑶中男性和女性之间的基因型频率也存在显著差异（P<0.05），白裤瑶中正常 LDL-C（≤3.20mmol/L）和高 LDL-C（>3.20mmol/L）亚组之间的基因型和等位基因频率也存在显著差异（均 P<0.05），汉族中男性和女性之间的基因型频率也存在显著差异（均 P<0.05）。白裤瑶中男性 LDL-C 水平和女性 TC 和 HDL-C 水平在三种基因型之间存在差异（均 P<0.05），而汉族中男性 HDL-C 水平和女性 HDL-C 和 ApoA1 水平在三种基因型之间存在差异（P<0.05-0.001）。A+A+基因型的个体血清 LDL-C、TC、HDL-C 或 ApoA1 水平高于 A-A+和 A⁻A⁻基因型的个体。Spearman 秩相关分析显示，白裤瑶 LDL-C 水平和汉族 HDL-C 水平与基因型相关（均 P<0.05 和 P<0.01）。
LDL-R 基因 Ava Ⅱ多态性与血清脂质水平的相关性在白裤瑶和汉族人群中存在差异。这种差异可能部分是由于 LDL-R 基因 Ava Ⅱ多态性或 LDL-R 基因-环境相互作用的不同。
