Laboratory of Molecular Cardiology, Institute of Cardiology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.
Lipids Health Dis. 2013 Aug 6;12:120. doi: 10.1186/1476-511X-12-120.
Dyslipidemia is one of several known risk factors for coronary heart disease, a leading cause of death in Lithuania. Blood lipid levels are influenced by multiple genetic and environmental factors. Epidemiological studies demonstrated the impact of nutrition on lipid levels within the Lithuanian population although the role of genetic factors for dyslipidemias has not yet been studied. The objective of this study was to assess the distribution of the APOE, SCARB1, PPARα genotypes in the Lithuanian adult population and to determine the relationship of these genotypes with dyslipidemia.
A cross-sectional health survey was carried out in a representative random sample of the Lithuanian population aged 25-64 (n=1030). A variety of single-nucleotide polymorphisms (SNPs) of the APOE (rs429358 and rs7412), SCARB1 (rs5888) and PPARα (rs1800206) genes were assessed using real-time polymerase chain reaction. Serum lipids were determined using enzymatic methods.
RESULTS/PRINCIPAL FINDINGS: Men and women with the APOE2 genotype had the lowest level of total and low-density lipoprotein cholesterol (LDL-C). Men with the APOE2 genotype had significantly higher levels of triglycerides (TG) than those with the APOE3 genotype. In men, the carriers of the APOE4 genotype had higher odds ratios (OR) of reduced (<1.0 mmol/L) high density lipoprotein cholesterol (HDL-C) levels versus APOE3 carriers (OR=1.98; 95% CI=1.05-3.74). The odds of having elevated (>1.7 mmol/L) TG levels was significantly lower in SCARB1 genotype CT carriers compared to men with the SCARB1 genotype CC (OR=0.50; 95% CI=0.31-0.79). In men, carriers of the PPARα genotype CG had higher OR of elevated TG levels versus carriers of PPARα genotype CC (OR=2.67; 95% CI=1.15-6.16). The odds of having high LDL-C levels were lower in women with the APOE2 genotype as compared to APOE3 genotype carriers (OR=0.35; 95% CI=0.22-0.57).
CONCLUSIONS/SIGNIFICANCE: Our data suggest a gender difference in the associations between APOE, SCARB1, PPARα genotypes and lipid levels. In men, the APOE4 genotype and PPARα genotype CG were correlated with an atherogenic lipid profile while the SCARB1 genotype CT had an atheroprotective effect. In women, APOE2 carriers had the lowest odds of high LDL-C.
血脂异常是冠心病的已知危险因素之一，冠心病是立陶宛的主要死因之一。血脂水平受多种遗传和环境因素的影响。尽管遗传因素对血脂异常的作用尚未得到研究，但流行病学研究已经证明了营养对立陶宛人群血脂水平的影响。本研究的目的是评估 APOE、SCARB1、PPARα 基因型在立陶宛成年人群中的分布，并确定这些基因型与血脂异常的关系。
在年龄在 25-64 岁的立陶宛代表性随机人群中进行了一项横断面健康调查（n=1030）。使用实时聚合酶链反应评估 APOE（rs429358 和 rs7412）、SCARB1（rs5888）和 PPARα（rs1800206）基因的多种单核苷酸多态性（SNP）。使用酶法测定血清脂质。
结果/主要发现：APOE2 基因型的男性和女性总胆固醇和低密度脂蛋白胆固醇（LDL-C）水平最低。APOE2 基因型男性的甘油三酯（TG）水平明显高于 APOE3 基因型男性。在男性中，与 APOE3 携带者相比，APOE4 基因型携带者高密度脂蛋白胆固醇（HDL-C）水平降低（<1.0mmol/L）的比值比更高（比值比[OR]=1.98；95%置信区间[CI]=1.05-3.74）。与 SCARB1 基因型 CC 携带者相比，SCARB1 基因型 CT 携带者的 TG 水平升高（>1.7mmol/L）的可能性显著降低（OR=0.50；95%CI=0.31-0.79）。在男性中，与 PPARα 基因型 CC 携带者相比，PPARα 基因型 CG 携带者的 TG 水平升高的比值比更高（OR=2.67；95%CI=1.15-6.16）。与 APOE3 基因型携带者相比，APOE2 基因型女性的 LDL-C 水平升高的可能性较低（OR=0.35；95%CI=0.22-0.57）。
结论/意义：我们的数据表明，APOE、SCARB1、PPARα 基因型与血脂水平之间的关联存在性别差异。在男性中，APOE4 基因型和 PPARα 基因型 CG 与致动脉粥样硬化脂质谱相关，而 SCARB1 基因型 CT 具有抗动脉粥样硬化作用。在女性中，APOE2 携带者 LDL-C 水平升高的可能性最低。
