School of Medicine, Ningbo University, Ningbo, Zhejiang 315211, PR China.
Mol Med Rep. 2013 Jul;8(1):260-6. doi: 10.3892/mmr.2013.1454. Epub 2013 May 2.
Four gene variants related to lipid metabolism (including the rs562338 and rs503662 variants of the APOB gene, the rs7767084 variant of the LPA gene and the rs2246942 variant of the LIPA gene) have been shown to be associated with coronary heart disease (CHD). The aim of the present study was to assess their association with CHD in the Han Chinese population and to assess the contribution of these gene variants to CHD. Using the standardized coronary angiography method, we enrolled 290 CHD patients and 193 non-CHD patients as non-CHD controls from Lihuili Hospital (Ningbo, China). In addition, we recruited 330 unrelated healthy volunteers as healthy controls from the Xi Men Community (Ningbo, China). Our results demonstrated that the rs503662 and rs562338 variants of the APOB gene were extremely rare in the Han Chinese population (minor allele frequency <1%). Genotype rs2246942-GG of the LIPA gene was associated with an increased risk of CHD [CHD cases versus healthy controls: P=0.04; odds ratio (OR)=1.63; 95% confidence interval (CI)=1.02-2.60). Genotype rs7767084-CC of the LPA gene was identified as a protective factor against CHD in females (CHD cases versus non-CHD controls: P=0.04, OR=0.21; CHD cases versus healthy controls: P=0.02, OR=0.21). The results of our meta-analysis indicated that rs7767084 was not associated with a high risk of CHD (P=0.83; combined OR=0.93; 95% CI=0.47-1.85). In the present study, two single nucleotide polymorphisms (SNPs) of genes involved in lipid metabolism (rs2246942 and rs7767084) were identified to be significantly associated with CHD in the Han Chinese population. Specifically, rs2246942-GG of the LIPA gene was a risk factor for CHD, while rs7767084-CC of the LPA gene was a protective factor against CHD in females. However, our meta-analysis indicated that rs7767084 is not associated with a higher risk of CHD.
四种与脂质代谢相关的基因变异（包括 APOB 基因的 rs562338 和 rs503662 变异、LPA 基因的 rs7767084 变异和 LIPA 基因的 rs2246942 变异）已被证明与冠心病（CHD）有关。本研究的目的是评估这些基因变异与汉族人群 CHD 的相关性，并评估这些基因变异对 CHD 的贡献。我们使用标准化的冠状动脉造影方法，从中国宁波李惠利医院（Lihuili Hospital）招募了 290 例 CHD 患者和 193 例非 CHD 患者作为非 CHD 对照组。此外，我们还从中国宁波西门社区招募了 330 名无关的健康志愿者作为健康对照组。我们的结果表明，APOB 基因的 rs503662 和 rs562338 变异在汉族人群中极为罕见（次要等位基因频率<1%）。LIPA 基因的 rs2246942-GG 基因型与 CHD 风险增加相关[CHD 病例与健康对照组相比：P=0.04；比值比（OR）=1.63；95%置信区间（CI）=1.02-2.60]。LPA 基因的 rs7767084-CC 基因型被确定为女性 CHD 的保护因素（CHD 病例与非 CHD 对照组相比：P=0.04，OR=0.21；CHD 病例与健康对照组相比：P=0.02，OR=0.21）。我们的荟萃分析结果表明，rs7767084 与 CHD 高危无相关性（P=0.83；合并 OR=0.93；95%CI=0.47-1.85）。在本研究中，我们发现两个参与脂质代谢的基因（rs2246942 和 rs7767084）的单核苷酸多态性（SNP）与汉族人群的 CHD 显著相关。具体而言，LIPA 基因的 rs2246942-GG 基因型是 CHD 的危险因素，而 LPA 基因的 rs7767084-CC 基因型是女性 CHD 的保护因素。然而，我们的荟萃分析表明，rs7767084 与 CHD 高危无相关性。
