發(fā)布時間：2018-04-25 15:03

  本文選題：血脂水平 + 蛋白水解酶D��； 參考：《廣西醫(yī)科大學》2015年碩士論文

【摘要】：背景和目的：最新的全基因組關聯(lián)研究(Genome-wide association study, GWAS)表明,在歐裔人群中蛋白水解酶D (Peptidase D, PEPD)基因rs731839單核苷酸多態(tài)性(Single nucleotide polymorphism, SNP)與血脂水平有關。然而,基因變異的影響效能在不同種族或民族可能有所不同。因此,本研究選取廣西仫佬族和當?shù)貪h族人群為研究對象,旨在于探討PEPD rs731839SNP和某些環(huán)境因素與血脂水平的關系。方法：本研究以年齡和性別為分層依據(jù),隨機選取符合納入標準的751名仫佬族和762名漢族人群作為研究對象,其均為廣西羅城仫佬族自治縣的常住居民。按照國際標準的心血管流行病學調(diào)查方法制定統(tǒng)一表格,采集相關流行病學資料。同時,留取血標本用于血脂水平的檢測及基因組DNA的提取。PEPD rs731839 SNP基因分型的鑒定使用多聚酶鏈式反應-限制性片段長度多態(tài)性分析(PCR-RFLP)和瓊脂糖凝膠電泳的方法,最后各從兩民族中隨機選取不同基因型的PCR擴增產(chǎn)物進行DNA測序驗證。結果：在本研究中,兩民族人群的體重、體重指數(shù)、舒張壓、血清載脂蛋白(Apo)B水平以及吸煙百分率比較差異具有統(tǒng)計學意義。廣西仫佬族人群的體重、體重指數(shù)和舒張壓水平明顯低于當?shù)貪h族人群(P0.05-0.001),而ApoB水平和吸煙百分比則高于當?shù)貪h族人群(P0.05)。仫佬族人群的G等位基因頻率為63.8%,A等位基因為36.2%；漢族人群的分別為63.3%、36.7%。仫佬族人群的GG、GA和AA基因型頻率分別為41.9%,43.8%和14.3%；漢族人群GG、GA和AA基因型頻率分別為39.9%,46.9%和13.2%。兩民族人群的PEPD rs731839 SNP等位基因及基因型頻率比較差異均無統(tǒng)計學差異(P0.05)。在仫佬族人群中,不同性別人群的GG. GA和AA基因型的分布比較差異有統(tǒng)計學意義(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, 與非A等位基因攜帶者相比,A等位基因攜帶者血清高密度脂蛋白膽固醇(HDL-C)、 ApoAI水平較高,但甘油三酯(TG)水平較低； 漢族人群A等位基因攜帶者的血清HDL-C、低密度脂蛋白膽固醇(LDL-C)及ApoAI水平較非A等位基因攜帶者高(P0.05-0.001)。按性別進行分層分析發(fā)現(xiàn),仫佬族人群血清HDL-C、ApoAI和TG水平的差異僅存在男性人群中。仫佬族男性人群A等位基因攜帶者血清HDL-C、ApoAI水平較非A等位基因攜帶者高,而TG水平則較低(P0.05-0.01)。在漢族男性人群中,A等位基因攜帶者比非A等位基因攜帶者具有更高的血清總膽固醇(TC)、HDL-C、LDL-C及ApoAI水平；漢族女性人群的A等位基因攜帶者比非A等位基因攜帶者具有更高的血清TG. HDL-C及ApoAI水平(均P0.05)。另外,兩民族及其合并人群的血脂水平還受多種環(huán)境因素(如年齡、性別、吸煙及飲酒等)的影響(均P0.05-0.001)。結論：廣西仫佬族與漢族人群之間PEPD rs731839 SNP與血脂水平的關系存在差異,且在兩民族不同性別人群中該基因位點與血脂的關系也不完全一致。提示在我們的研究對象當中,PEPD rs731839 SNP可能存在民族(種族)和／或性別特異性。
[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.

【學位授予單位】：廣西醫(yī)科大學
【學位級別】：碩士
【學位授予年份】：2015
【分類號】：R54

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本文編號：1801825