青岛地区汉族人群LYPLAL1 rsl2137855基因多态性与非酒精性脂肪性肝病的相关性研究

发布时间：2018-04-24 14:52

本文选题：非酒精性脂肪性肝病 + LYPLAL1　；参考：《南京医科大学》2017年硕士论文

【摘要】：背景:非酒精性脂肪性肝病(Non-alcoholic fatty liver disease,NAFLD)已成为世界范围内的常见肝病之一,在欧美国家甚至是最常见的肝病,肝移植的首要病因。NAFLD病因繁杂,发病机制一直是研究的焦点。近些年随着各项生物学技术和统计大数据的成熟及新技术的发掘,揭示遗传因素在NAFLD整个疾病进程中起着重要作用。截止目前,GWAS研究已发现了大量NAFLD的易感基因,包括LYPLAL1基因,编码一种溶血样磷脂酶蛋白,研究显示该基因与NAFLD之间具有相关性,但国内尚缺乏相关研究。目的:探讨青岛地区汉族人群LYPLAL1 rs12137855基因多态性与NAFLD的相关性以及对肝功能的影响。方法:利用病例-对照队列研究,根据超声检查选取184例NAFLD患者作为NAFLD组,选取114例健康人群作为对照组,所有样本均来自青岛市市立医院。每个样本留取血样,采用多聚酶链反应(PCR)及基因型检测的方法检测对每个样本的LYPLAL1rs12137855基因位点进行分型,利用PCR,蛋白质印迹法(Western-Blot),酶联接免疫吸附剂测定(Enzyme-Linked ImmunosorbnentAssay,ELISA)等生物学技术测量其每个样本的血清学指标。整理数据,运用哈迪-温伯格(H-W)平衡定律判断两组人群样本选择是否来自同一人群,是否满足随机抽样;利用SPSS 17.0软件,定性数据采用Pearson x 2分析,定量数据t检验等方法对两组基因型相关性及各项临床资料差异进行比较。结果:根据卡方检验结果显示,在青岛汉族人群中,NAFLD组与健康对照组的LYPLAL1rs12137855基因型不存在明显的差异(P0.05);携带LYPLAL1 rs12137855等位基因的受试者,体重及BMI、LDL均高于未携带突变位点基因型者,该差异具有统计学意义。结论:在青岛地区汉族人群中,携带LYPAL1rs12137855基因多态性并未增加罹患NAFLD的风险,与体重及低密度脂蛋白存在一定的关系。
[Abstract]:Background: Non-alcoholic fatty liver disease (NAFLD) has become one of the most common liver diseases in the world. In recent years, with the maturity of various biological techniques and statistics of big data and the discovery of new techniques, it is revealed that genetic factors play an important role in the whole process of NAFLD disease. Up to now, a large number of susceptible genes of NAFLD, including LYPLAL1 gene, have been found in this study, which encode a lysoid phospholipase protein. It has been found that there is a correlation between the gene and NAFLD, but there are few related studies in China. Objective: to investigate the relationship between LYPLAL1 rs12137855 gene polymorphism and NAFLD and its effect on liver function in Qingdao Han population. Methods: a case-control cohort study was conducted in which 184 NAFLD patients were selected as NAFLD group and 114 healthy persons as control group. All samples were collected from Qingdao Municipal Hospital. Blood samples were collected from each sample. Polymerase chain reaction (PCR) and genotyping were used to detect the genotyping of LYPLAL1rs12137855 loci in each sample. The serological indexes of each sample were measured by using PCR, Western blotl and enzyme linked immunosorbent assay (Elisa) and other biological techniques such as Enzyme-Linked Immunosorbent Assayanthus ELISA. Sorting out the data, using the H-W) balance law of Hardy Weinberg to judge whether the two groups of population samples are selected from the same population and whether they satisfy the random sampling, and using SPSS 17.0 software, qualitative data are analyzed by Pearson x2. The correlation of genotypes and the differences of clinical data between the two groups were compared by t-test. Results: according to the chi-square test, there was no significant difference in LYPLAL1rs12137855 genotype between the NAFLD group and the healthy control group in Qingdao Han population, and the body weight and LYPLAL1 rs12137855 allele of the subjects with LYPLAL1 rs12137855 allele were higher than those without mutation locus genotype. The difference is statistically significant. Conclusion: the polymorphism of LYPAL1rs12137855 gene does not increase the risk of NAFLD in the Han population in Qingdao area, and has a certain relationship with body weight and low density lipoprotein.
【学位授予单位】：南京医科大学
【学位级别】：硕士
【学位授予年份】：2017
【分类号】：R575.5

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