广西白裤瑶族人群肝脂酶启动子基因多态性与血脂水平的关系

发布时间：2018-11-13 21:08

【摘要】： 目的:肝脂酶(HL)是脂蛋白代谢的关键酶之一,主要水解各种脂蛋白中的甘油三酯和磷脂。HL活性变化能影响脂蛋白代谢,尤其是高密度脂蛋白(HDL)的浓度变化。有很多研究表明HL启动子基因多态性影响HL的表达从而影响血脂谱,能明显增高血浆HDL浓度,亦能使小而致密的低密度脂白(LDL)等致动脉粥样硬化脂蛋白水平增高,并与冠心病明显相关,但这些研究的结果不甚一致。我国的白裤瑶族是瑶族的独特支系,因其男子均蓄长发,头裹白巾,常年穿长及膝盖的白裤而得名。白裤瑶族总人口3万左右。他们的生存环境非常恶劣,现正处于由母系社会向父系社会过渡的阶段,仍遗留着母系社会向父系社会过渡阶段的社会文化信息和古老习俗,如族内婚制、独特的服饰、奇特的葬礼、铜鼓舞和在圩日的夜晚男女对歌定情等。目前尚未有HL启动子基因多态性对白裤瑶族人群血脂水平影响的报道。本研究的目的是比较广西白裤瑶族和汉族人群HL启动子基因多态性以及对两个民族人群血脂水平的影响。方法:采用分层随机整群抽样方法对778名15～80岁的白裤瑶族人群及648名当地的汉族人群进行研究。制定标准问卷收集人口统计学、社会经济状况、吸烟和饮酒等资料,测量血压、身高、体重、体重指数、血脂及载脂蛋白等。用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)和聚丙烯凝胶电泳方法检测HL启动子基因多态性和等位基因频率,用PCR产物直接测序法进行验证。结果:(1)白裤瑶族人群的总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)和载脂蛋白(Apo) A1水平均明显低于汉族人群(均P0.01)。甘油三酯(TG)和ApoB水平与汉族人群比较差异无统计学意义(P0.05)。(2)白裤瑶族人群肝脂酶基因(LIPC)-250G/A的GG、GA和AA基因型频率分别为50.0%、40.2%和6.7%,G和A等位基因频率分别为71.7 %和28.3 %;汉族人群GG、GA和AA基因型构成分别为33.6%、54.0%和12.3%(与白裤瑶族人群比较P0.001),G和A等位基因频率分别60.6%和39.4% (与白裤瑶族人群比较P0.001)。(3)在汉族人群中,GG基因型的TC、LDL-C和ApoB水平明显低于GA/AA基因型(P0.01)。其余的血脂水平在两个民族的GG基因型与GA/AA基因型之间比较均无显著性差异(P0.05)。(4)Logistic回归分析显示,白裤瑶族人群的基因型与TC水平呈相关(P0.05),而汉族人群的基因型则与ApoB水平呈相关(P0.01)。结论:广西白裤瑶族人群LIPC-250G/A分布与汉族人群之间存在显著差异。汉族人群的TC、TG、LDL-C和Apo B水平及ApoA1/ApoB比值与LIPC-250G/A有相关性,白裤瑶族人群的基因型与TC水平有相关性。广西白裤瑶族和汉族人群血脂谱的差异可能与两者的遗传和环境因素不同有关。
[Abstract]:Aim: hepatic lipase (HL) is one of the key enzymes in lipoprotein metabolism. The changes of HL activity can affect lipoprotein metabolism, especially the concentration of high-density lipoprotein (HDL). Many studies have shown that the polymorphism of HL promoter affects the expression of HL, thus affects the blood lipid profile, increases the plasma HDL concentration, and increases the atherosclerotic lipoprotein level, such as small and dense low density lipoprotein (LDL). There was a significant correlation with coronary heart disease, but the results of these studies were not consistent. The white trousers and Yao nationality in our country is a unique branch of the Yao nationality, named after its men with long hair, white towel wrapped in their heads and long knee trousers all year round. The total population of the Bai Kui Yao nationality is about 30, 000. They are living in a very harsh environment and are now in the transition from a matrilineal society to a patrilineal society, leaving behind sociocultural information and ancient customs, such as intra-clan marriage and unique clothing, in the transition from matriarchal society to patrilineal society, Strange funerals, bronze inspiration, and on a fair night for men and women singing and so on. There is no report on the effect of HL promoter gene polymorphism on blood lipid level in Baikouyao nationality. The aim of this study was to compare the polymorphism of HL promoter gene and the effect of HL promoter gene polymorphism on serum lipids in Baikouyao nationality and Han nationality in Guangxi. Methods: the stratified random cluster sampling method was used to study 778 Baikouyao people aged 1580 and 648 local Han people. A standard questionnaire was developed to collect data on demographics, socioeconomic status, smoking and alcohol consumption, and to measure blood pressure, height, body mass index, blood lipids and apolipoproteins. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and polyacrylamide gel electrophoresis (page) were used to detect the polymorphism and allele frequency of HL promoter. The results were verified by direct sequencing of PCR products. Results: (1) the levels of total cholesterol (TC), high density lipoprotein cholesterol (HDL-C), low density lipoprotein cholesterol (LDL-C) and apolipoprotein (Apo) A1 in Baikouyao nationality were significantly lower than those in Han nationality (P0.01). The levels of triglyceride (TG) and ApoB were not significantly different from those of Han nationality (P0.05). (2). The GG,GA and AA genotypes of (LIPC) 250G/A were 50.0%, respectively. The frequencies of G and A alleles in 40.2% and 6.7% were 71.7% and 28.3%, respectively. The genotypes of GG,GA and AA in Han nationality were 33.6% and 12.3%, respectively. The frequencies of G and A alleles were 60.6% and 39.4% respectively (compared with P0.001). (3 in Baikouyao nationality). In Han population, the TC,LDL-C and ApoB levels of GG genotype were significantly lower than those of GA/AA genotype (P0.01). There was no significant difference between GG genotype and GA/AA genotype in the other blood lipid levels (P0.05). (4) Logistic regression analysis showed that there was a correlation between TC level and genotype of Baikouyao nationality (P0.05). The genotype of Han population was correlated with ApoB level (P0.01). Conclusion: there is a significant difference between the distribution of LIPC-250G/A and the Han population in Baikouyao nationality in Guangxi. The levels of TC,TG,LDL-C and Apo B and the ratio of ApoA1/ApoB in Han population were correlated with LIPC-250G/A, and the genotype of Baikouyao was correlated with TC level. The difference of blood lipids profile between Bai Kuyao nationality and Han nationality in Guangxi may be related to their genetic and environmental factors.
【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2009
【分类号】：R394

【相似文献】