Department of Cardiology, Institute of Cardiovascular Diseases, the First Affiliated Hospital, Guangxi Medical University, Nanning, Guangxi, People's Republic of China.
Lipids Health Dis. 2011 Dec 31;10:248. doi: 10.1186/1476-511X-10-248.
The association of rs16996148 single nucleotide polymorphism (SNP) in NCAN/CILP2/PBX4 and serum lipid levels is inconsistent. Furthermore, little is known about the association of rs16996148 SNP and serum lipid levels in the Chinese population. We therefore aimed to detect the association of rs16996148 SNP and several environmental factors with serum lipid levels in the Guangxi Mulao and Han populations.
A total of 712 subjects of Mulao nationality and 736 participants of Han nationality were randomly selected from our stratified randomized cluster samples. Genotyping of the rs16996148 SNP was performed by polymerase chain reaction and restriction fragment length polymorphism combined with gel electrophoresis, and then confirmed by direct sequencing.
The levels of apolipoprotein (Apo) B were higher in Mulao than in Han (P < 0.001). The frequencies of G and T alleles were 87.2% and 12.8% in Mulao, and 89.9% and 10.1% in Han (P <0.05); respectively. The frequencies of GG, GT and TT genotypes were 76.0%, 22.5% and 1.5% in Mulao, and 81.2%, 17.4% and 1.4% in Han (P <0.05); respectively. There were no significant differences in the genotypic and allelic frequencies between males and females in both ethnic groups. The levels of HDL-C, ApoAI, and the ratio of ApoAI to ApoB in Mulao were different between the GG and GT/TT genotypes in males but not in females (P < 0.01 for all), the subjects with GT/TT genotypes had higher serum levels of HDL-C, ApoAI, and the ratio of ApoAI to ApoB than the subjects with GG genotype. The levels of TC, TG, LDL-C, ApoAI, and ApoB in Han were different between the GG and GT/TT genotypes in males but not in females (P < 0.05-0.001), the T allele carriers had higher serum levels of TC, TG, LDL-C, ApoAI, and ApoB than the T allele noncarriers. The levels of HDL-C, ApoAI, and the ratio of ApoAI to ApoB in Mulao were correlated with the genotypes in males (P < 0.05-0.01) but not in females. The levels of TC, TG, HDL-C, LDL-C, ApoAI and ApoB in Han were associated with the genotypes in males (P < 0.05-0.001) but not in females. Serum lipid parameters were also correlated with several enviromental factors in both ethnic groups (P < 0.05-0.001).
The genotypic and allelic frequencies of rs16996148 SNP and the associations of the SNP and serum lipid levels are different in the Mulao and Han populations. Sex (male)-specific association of rs16996148 SNP in the NCAN/CILP2/PBX4 and serum lipid levels is also observed in the both ethnic groups.
rs16996148 单核苷酸多态性（SNP）在 NCAN/CILP2/PBX4 中的关联与血清脂质水平不一致。此外，关于 rs16996148 SNP 与中国人群血清脂质水平的关联知之甚少。因此，我们旨在检测 rs16996148 SNP 与几个环境因素与广西毛南族和汉族人群血清脂质水平的关联。
从我们的分层随机聚类样本中随机选择了 712 名毛南族和 736 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与凝胶电泳相结合的方法进行 rs16996148 SNP 的基因分型，然后通过直接测序进行确认。
毛南族的载脂蛋白（Apo）B 水平高于汉族（P<0.001）。毛南族的 G 和 T 等位基因频率分别为 87.2%和 12.8%，汉族分别为 89.9%和 10.1%（P<0.05）；分别。毛南族 GG、GT 和 TT 基因型的频率分别为 76.0%、22.5%和 1.5%，汉族分别为 81.2%、17.4%和 1.4%（P<0.05）；分别。在两个民族的男性和女性中，基因型和等位基因频率均无显著差异。毛南族男性中，GG 和 GT/TT 基因型之间的 HDL-C、ApoAI 和 ApoAI 与 ApoB 比值存在差异，但女性无差异（所有 P<0.01），GT/TT 基因型的受试者 HDL-C、ApoAI 和 ApoAI 与 ApoB 的血清水平高于 GG 基因型的受试者。汉族男性中，GG 和 GT/TT 基因型之间的 TC、TG、LDL-C、ApoAI 和 ApoB 水平存在差异，但女性无差异（P<0.05-0.001），T 等位基因携带者 TC、TG、LDL-C、ApoAI 和 ApoB 的血清水平高于 T 等位基因非携带者。毛南族男性的 HDL-C、ApoAI 和 ApoAI 与 ApoB 比值与基因型相关（P<0.05-0.01），但女性则无关。汉族男性的 TC、TG、HDL-C、LDL-C、ApoAI 和 ApoB 水平与基因型相关（P<0.05-0.001），但女性则无关。血清脂质参数与两个民族的几个环境因素也存在相关性（P<0.05-0.001）。
rs16996148 SNP 的基因型和等位基因频率以及 SNP 与血清脂质水平的关联在毛南族和汉族人群中存在差异。NCAN/CILP2/PBX4 中的 rs16996148 SNP 与血清脂质水平之间的性别（男性）特异性关联也在两个民族中观察到。
