Dissertation > Medicine, health > Internal Medicine > Digestive and abdominal diseases > Liver and gall bladder disease > Liver metabolic disorders

The Association Between PPARγgene Polymorphisms and Non-alcoholic Fatty Liver Disease

Author CaoChuangYu
Tutor ZengZuo
School Guangzhou Medical College
Course Internal Medicine
Keywords Gene Polymorphism Peroxisome proliferator-activated receptor γ Non - alcoholic fatty liver disease Haplotype
CLC R575.5
Type Master's thesis
Year 2011
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Background and Purpose: The incidence of nonalcoholic fatty liver disease (NAFLD, commonly known as fatty liver) and insulin resistance (IR) is closely related to insulin resistance may be the central link of the pathogenesis of NAFLD. In recent years, studies have shown that activation of the peroxisome proliferator-activated receptor γ (PPARγ) can improve the body's sensitivity to insulin. PPARγ gene polymorphism with metabolic syndrome (MS) is significantly related to IR is a common pathogenesis of NAFLD and MS. Haplotype (Haplotype) analysis reveals complex genetic diseases and genetic correlation. NAFLD is a complex genetic disease and genetic pathogenesis is not yet fully understood, the paper studies the Guangdong Han population over PPARγ haplotype distribution, to explore the relationship between the PPARγ gene polymorphism and NAFLD incidence susceptibility from molecular biology to explore the pathogenesis of NAFLD. Subjects and methods: In accordance with the case - control design, from 2009 in the Han population in Guangdong Province in the epidemiological investigation of NAFLD screened, 232 cases of severe fatty liver removal involving alcohol consumption, viral hepatitis, drug-induced liver The causes of 63 cases included in the 169 patients with NAFLD, as the case group, for a 1:3 ratio in proportion to the case group and the control group were randomly selected from the non-fatty liver crowd of 1,174 cases 699 cases selected control group. Detected using the polymerase chain reaction - restriction fragment length polymorphism (PCR-RFLP) method PPARγ four loci: C-681G, C-689T, Pro12Ala and C1431T single nucleotide polymorphism (SNP), biochemical detected by fasting glucose, cholesterol and other indicators, measuring waist circumference, hip circumference, height, weight, blood pressure and other clinical parameters, the questionnaires age, alcohol consumption, habits. Hardy-Weinberg law test group representation; linkage disequilibrium analysis test chains intensity; single mutation analysis and haplotype analysis correlation test SNP and NAFLD. Results: 1. Clinical parameters between the case group and the control group, weight, BMI, waist circumference, hip circumference, waist-to-hip ratio, systolic blood pressure, diastolic blood pressure, fasting glucose, fasting insulin, insulin resistance index, triglycerides, total cholesterol, alanine aminotransferase, aspartate aminotransferase were significantly higher than those in the control group (P lt; 0.05), high-density lipoprotein cholesterol was significantly lower than the control group (P lt; 0.05). The the NAFLD group of MS prevalence (60.94%) was significantly higher than the normal population (7.43%) (P lt; 0.01). 3 four loci, only the genotype frequency of the C-681G (CC, CG, GG) in the case group (0.349,0.479,0.172) and control group (0.415,0.473,0.112) distribution was significantly different ( P = 0.03), the other sites of the difference was not significant (P gt; 0.05). 4. C-681G GG genotype NAFLD prevalence of risk factors (OR = 2.04, 95% CI :1.11-3 .77, P = 0.02). Haplotype analysis display GCCT haplotypes of NAFLD risk factors (OR = 1.38, 95% CI :1.04-1 .83, P = 0.03). Conclusion: 1 NAFLD and clinical manifestations of MS overlap. 2 PPARγC-681G genetic variation is NAFLD risk factors sick. 3 PPARγC-689T, Pro12Ala and C1431T gene polymorphism and NAFLD incidence susceptibility irrelevant. 4 PPARγ the gene GCCT haplotype and NAFLD incidence susceptibility.

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