本文選題：非酒精性脂肪性肝病 + LYPLAL1　； 參考：《南京醫(yī)科大學(xué)》2017年碩士論文

【摘要】：背景:非酒精性脂肪性肝病(Non-alcoholic fatty liver disease,NAFLD)已成為世界范圍內(nèi)的常見肝病之一,在歐美國(guó)家甚至是最常見的肝病,肝移植的首要病因。NAFLD病因繁雜,發(fā)病機(jī)制一直是研究的焦點(diǎn)。近些年隨著各項(xiàng)生物學(xué)技術(shù)和統(tǒng)計(jì)大數(shù)據(jù)的成熟及新技術(shù)的發(fā)掘,揭示遺傳因素在NAFLD整個(gè)疾病進(jìn)程中起著重要作用。截止目前,GWAS研究已發(fā)現(xiàn)了大量NAFLD的易感基因,包括LYPLAL1基因,編碼一種溶血樣磷脂酶蛋白,研究顯示該基因與NAFLD之間具有相關(guān)性,但國(guó)內(nèi)尚缺乏相關(guān)研究。目的:探討青島地區(qū)漢族人群LYPLAL1 rs12137855基因多態(tài)性與NAFLD的相關(guān)性以及對(duì)肝功能的影響。方法:利用病例-對(duì)照隊(duì)列研究,根據(jù)超聲檢查選取184例NAFLD患者作為NAFLD組,選取114例健康人群作為對(duì)照組,所有樣本均來自青島市市立醫(yī)院。每個(gè)樣本留取血樣,采用多聚酶鏈反應(yīng)(PCR)及基因型檢測(cè)的方法檢測(cè)對(duì)每個(gè)樣本的LYPLAL1rs12137855基因位點(diǎn)進(jìn)行分型,利用PCR,蛋白質(zhì)印跡法(Western-Blot),酶聯(lián)接免疫吸附劑測(cè)定(Enzyme-Linked ImmunosorbnentAssay,ELISA)等生物學(xué)技術(shù)測(cè)量其每個(gè)樣本的血清學(xué)指標(biāo)。整理數(shù)據(jù),運(yùn)用哈迪-溫伯格(H-W)平衡定律判斷兩組人群樣本選擇是否來自同一人群,是否滿足隨機(jī)抽樣;利用SPSS 17.0軟件,定性數(shù)據(jù)采用Pearson x 2分析,定量數(shù)據(jù)t檢驗(yàn)等方法對(duì)兩組基因型相關(guān)性及各項(xiàng)臨床資料差異進(jìn)行比較。結(jié)果:根據(jù)卡方檢驗(yàn)結(jié)果顯示,在青島漢族人群中,NAFLD組與健康對(duì)照組的LYPLAL1rs12137855基因型不存在明顯的差異(P0.05);攜帶LYPLAL1 rs12137855等位基因的受試者,體重及BMI、LDL均高于未攜帶突變位點(diǎn)基因型者,該差異具有統(tǒng)計(jì)學(xué)意義。結(jié)論:在青島地區(qū)漢族人群中,攜帶LYPAL1rs12137855基因多態(tài)性并未增加罹患NAFLD的風(fēng)險(xiǎn),與體重及低密度脂蛋白存在一定的關(guān)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.
【學(xué)位授予單位】：南京醫(yī)科大學(xué)
【學(xué)位級(jí)別】：碩士
【學(xué)位授予年份】：2017
【分類號(hào)】：R575.5

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