摘要

尼泊尔人群Niemann-Pick C1-Like 1基因非同义单核苷酸多态性rs1468384及其与血清胆固醇水平的相关性分析

作者(年代):k.p.辛格，u.s timilsina, H.K.Tamang, p.a yadav4, B.Gautam, s.s shrestha, i.s restha, s.s khadka

背景:Niemann-Pick C1-Like 1蛋白是一种新发现的固醇内流转运蛋白，积极参与胆固醇稳态通路。单核苷酸多态性rs1468384 (GA跃迁)通过MuPro软件分析显示蛋白质稳定性下降。有关尼泊尔人群中等位基因频率和这种多态性对血清胆固醇水平影响的相关数据尚不清楚。本研究旨在利用聚合酶链反应(Polymerase Chain Reaction)限制性片段长度多态性(limited Fragment Length Polymorphism)技术在尼泊尔人群中检测rs1468384基因，确定该多态性的等位基因频率，并将其与血清胆固醇水平相关联。材料和方法:在加德满都谷地随机选取74名健康受试者。DNA是从白细胞中分离出来的。采用聚合酶链式反应-限制性片段长度多态性技术进行基因型鉴定。脂质谱分析采用胆固醇氧化酶过氧化物(CHOD-PAP)法(Humastar 600, Human, Germany系统试剂)。结果:基因型分布符合Hardy-Weinberg平衡(X2=2.0233, df=1)。尼泊尔人群中' G '等位基因频率(p=0.8581)高于' A '等位基因突变频率(q=0.1419)。 Genotype frequency distribution among Gender was not statistically significant (p value =0.427). Statistically significant differences in Total Cholesterol Level and LDL Cholesterol Level between genotypes were observed (Total Cholesterol Level “Genotype GG” 160.7 ± 30.3 mg/dl; “Genotype AG” 145.1 ± 22.5 mg/ dl, p value =0.019 and LDL Cholesterol Level “Genotype GG” 99.9 ± 28.6 mg/dl; “Genotype AG” 84.7 ± 19.3 mg/dl, p value =0.011). Conclusion: Relatively higher prevalence of rs1468384 polymorphism among Nepalese population was found in this study. The study showed a strong association between this polymorphism and the serum cholesterol levels.