广西仫佬族人群PEPD rs731839单核苷酸多态性与血脂水平的关系

发布时间：2018-04-25 15:03

本文选题：血脂水平 + 蛋白水解酶D　；参考：《广西医科大学》2015年硕士论文

【摘要】：背景和目的：最新的全基因组关联研究(Genome-wide association study, GWAS)表明,在欧裔人群中蛋白水解酶D (Peptidase D, PEPD)基因rs731839单核苷酸多态性(Single nucleotide polymorphism, SNP)与血脂水平有关。然而,基因变异的影响效能在不同种族或民族可能有所不同。因此,本研究选取广西仫佬族和当地汉族人群为研究对象,旨在于探讨PEPD rs731839SNP和某些环境因素与血脂水平的关系。方法：本研究以年龄和性别为分层依据,随机选取符合纳入标准的751名仫佬族和762名汉族人群作为研究对象,其均为广西罗城仫佬族自治县的常住居民。按照国际标准的心血管流行病学调查方法制定统一表格,采集相关流行病学资料。同时,留取血标本用于血脂水平的检测及基因组DNA的提取。PEPD rs731839 SNP基因分型的鉴定使用多聚酶链式反应-限制性片段长度多态性分析(PCR-RFLP)和琼脂糖凝胶电泳的方法,最后各从两民族中随机选取不同基因型的PCR扩增产物进行DNA测序验证。结果：在本研究中,两民族人群的体重、体重指数、舒张压、血清载脂蛋白(Apo)B水平以及吸烟百分率比较差异具有统计学意义。广西仫佬族人群的体重、体重指数和舒张压水平明显低于当地汉族人群(P0.05-0.001),而ApoB水平和吸烟百分比则高于当地汉族人群(P0.05)。仫佬族人群的G等位基因频率为63.8%,A等位基因为36.2%；汉族人群的分别为63.3%、36.7%。仫佬族人群的GG、GA和AA基因型频率分别为41.9%,43.8%和14.3%；汉族人群GG、GA和AA基因型频率分别为39.9%,46.9%和13.2%。两民族人群的PEPD rs731839 SNP等位基因及基因型频率比较差异均无统计学差异(P0.05)。在仫佬族人群中,不同性别人群的GG. GA和AA基因型的分布比较差异有统计学意义(男性：43.0%,46.0%,11.0%vs女性：40.9%,41.7%,17.4%；P0.05)。在仫佬族人群中, 与非A等位基因携带者相比,A等位基因携带者血清高密度脂蛋白胆固醇(HDL-C)、 ApoAI水平较高,但甘油三酯(TG)水平较低；汉族人群A等位基因携带者的血清HDL-C、低密度脂蛋白胆固醇(LDL-C)及ApoAI水平较非A等位基因携带者高(P0.05-0.001)。按性别进行分层分析发现,仫佬族人群血清HDL-C、ApoAI和TG水平的差异仅存在男性人群中。仫佬族男性人群A等位基因携带者血清HDL-C、ApoAI水平较非A等位基因携带者高,而TG水平则较低(P0.05-0.01)。在汉族男性人群中,A等位基因携带者比非A等位基因携带者具有更高的血清总胆固醇(TC)、HDL-C、LDL-C及ApoAI水平；汉族女性人群的A等位基因携带者比非A等位基因携带者具有更高的血清TG. HDL-C及ApoAI水平(均P0.05)。另外,两民族及其合并人群的血脂水平还受多种环境因素(如年龄、性别、吸烟及饮酒等)的影响(均P0.05-0.001)。结论：广西仫佬族与汉族人群之间PEPD rs731839 SNP与血脂水平的关系存在差异,且在两民族不同性别人群中该基因位点与血脂的关系也不完全一致。提示在我们的研究对象当中,PEPD rs731839 SNP可能存在民族(种族)和／或性别特异性。
[Abstract]:Background and purpose: the latest Genome-wide association study (GWAS) study (GWAS) shows that the rs731839 single nucleotide polymorphism of the protein hydrolase D (Peptidase D, PEPD) gene in the European population (Single nucleotide polymorphism) is related to the level of blood lipid level. However, the effect of genetic variation is in different races or people. In this study, the relationship between the PEPD rs731839SNP and some environmental factors and the level of blood lipid was studied in this study. Methods: the study was based on age and sex, and selected 751 ethnic groups and 762 Han people in accordance with the criteria of age and age. For the study object, all of them were resident in Guangxi Luo Cheng Mulam Nationality Autonomous County. According to the international standard of cardiovascular epidemiological investigation, a unified form was made to collect relevant epidemiological data. At the same time, the blood samples were used for the detection of blood lipid level and the identification of.PEPD rs731839 SNP genotyping by genomic DNA. Enzyme chain reaction restriction fragment length polymorphism analysis (PCR-RFLP) and agarose gel electrophoresis. Finally, the PCR amplification products of different genotypes were randomly selected from two ethnic groups for DNA sequencing. Results: in this study, the body weight, body mass index, diastolic pressure, serum apolipoprotein (Apo) B level and sucking of the two ethnic groups were in this study. The weight, body mass index and diastolic pressure level of the Guangxi ethnicity population were significantly lower than that of the local Han population (P0.05-0.001), while the ApoB level and smoking percentage were higher than that of the local Han population (P0.05). The G allele frequency of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity was 63.8% and the A allele was 36.2%. The frequencies of GG, GA and AA genotypes in the 36.7%. ethnic group were 41.9%, 43.8% and 14.3%, respectively, and the frequencies of GG, GA and AA genotypes in the Han population were 39.9%, and the PEPD rs731839 SNP alleles and genotype frequencies of the 46.9% and 13.2%. two ethnic groups were not statistically different (P0.05). There were significant differences in the distribution of GG. GA and AA genotypes in the sex population (male: 43%, 46%, 11.0%vs women: 40.9%, 41.7%, 17.4%; P0.05). In the ethnicity population, the A allele carriers had higher serum density lipoegg white cholesterol (HDL-C) and higher levels of ApoAI, but triglycerides (TG) were higher in the A allele carriers. The serum HDL-C, low density lipoprotein cholesterol (LDL-C) and ApoAI level in the A allele carriers of the Han population were higher than those of the non A allele carriers (P0.05-0.001). The difference of serum HDL-C, ApoAI and TG levels in the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity of the ethnicity The serum HDL-C, ApoAI level of the gene carrier is higher than that of non A allele carriers, while the TG level is lower (P0.05-0.01). In the Han male population, the A allele carriers have higher serum total cholesterol (TC), HDL-C, LDL-C and ApoAI than non A alleles, and the allele carriers of the Han female population are more than non A alleles. In addition, the blood lipid levels of the two people and their combined population are also affected by a variety of environmental factors (such as age, sex, smoking and drinking). Conclusion: the relationship between PEPD rs731839 SNP and blood lipid levels between the Guangxi and the Han people in Guangxi is associated with the relationship between the serum lipid level and the serum lipid level. The relationship between the gene locus and blood lipids is not exactly the same in the two people of different sexes. It is suggested that among our subjects, PEPD rs731839 SNP may have ethnic (race) and / or sex specificity.

【学位授予单位】：广西医科大学
【学位级别】：硕士
【学位授予年份】：2015
【分类号】：R54

【参考文献】