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Association of ERα and RIP140 Genetic Polymorphism with Type 2 Diabetes in Chinese Han
Author: QiaoYiChun
Tutor: LiuYaWen
School: Jilin University
Course: Epidemiology and Biostatistics,
Keywords: ERα RIP140 SNP type 2 diabetes environmental interaction
CLC: R587.1
Type: Master's thesis
Year: 2011
Downloads: 101
Quote: 1
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Abstract
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Type 2 diabetes is a complex genetic disease which is caused by interaction of multiple genes and multiple environmental factors. In recent years, with the improvement of life quality, changing of lifestyles gradually, the number of type 2 diabetes patients in the world increased dramatically, so type 2 diabetes has become a serious chronic disease which affected the living standard of people.It is recognized that Diabetes is caused of the generation of anti-insulin antibody, the defect of insulin receptor or the sensitivity of receptor target tissues is decreasing. It is a carbohydrates which is characterized by chronic hyperglycemia. and it is a syndrome which is disordering of protein and fat metabolism. Estrogen receptor a is an important material to regulate lipid metabolism. The mice which has removed of ERa gene can produce insulin resistance, reduced glucose tolerance and lead to obesity. RIP140 is a secondary inhibitor of ERa, the expression level of change that will directly affect the estrogen receptor activity in the cells and eventually lead to changes in target gene transcriptional activity.Objective:Exploring the association between ER a gene, RIP 140 gene polymorphism and type 2 diabetes, analysising the interaction of gene and gene, gene and environmental factors, also discussing the relation of ERa gene, RIP 140 gene and lipid metabolism in type 2 diabetes, so as to discussion the pathogenesis of T2DM, to provide the basis for the prevention and treatment of T2DM.Methods:This study put to use case-control methods, select the Chinese Northern Han people as the object of study, select the genes on ERa which is related with type 2 diabetes. Such as rs2077647. rs2228480, rs2273207 the three sites and the auxiliary regulatory gene on RIP140.such as rs2228507. rs2229741, rs10482863 the three sites as the candidate genes of the study. With association analysis. researching and analysising ERαgene. RIP 140 gene and type 2 diabetes susceptibility relation respectively, and also combining the results of analysis of the results of a number of points for further analysis. Multivariate logisticregression analysis genes and gene interactions. On the interaction between genes and environment study, a simple means of analysis of cases, while ERa gene and RIP140 gene according to genotype in type 2 diabetic patients to investigate the frequency distribution of the two gene polymorphism and lipid Metabolism.Results:In this study. rs10482863 of RIP140 are not in Hardy-weinberg equilibrium (P<0.05), other five tagSNPs are in Hardy-weinberg equilibrium both in case group and control group (P>0.05). Correlation analysis found that genotype and allele distribution had no significant difference between case and control group(P>0.05). There is no haplotypic association between any certain haplotype and T2DM(P>0.05). According to interaction between ERa gene and RIP 140 gene with multivariate logistic regression analysis, we do not yet found the interaction between ERa and RIP140(P>0.05). Analysising interaction of gene and environment accord to simple means of analysis of cases, There is a interaction between the rs2273207 of ERa and alcohol (P<0.05), and it is a negative interaction (COR<1). There is not interaction between other tagSNPs and type 2 diabetes. The rs2273207 genotype and allele distribution of ERa gene in type 2 diabetes patients had significant in HDL-C(P <0.05).There is not interaction between other tagSNPs polymorphism and lipid metabolism(P> 0.05).Conclusion:There is no association between ERa, RIP 140 and type 2 diabetes; There is no interaction between RIP140 and ERa; If the person take the G mutant allele of rs2273207 of ERa and drinking at the same time, this situation can reduce the risk of type 2 diabetes; There is no interaction between RIP140 and some relevant environmental factors to type 2 diabetes.; The rs2273207 of ERa can reduce the level of HDL-C to type 2 diabetes; There may be no association between rs2228507, rs 10482863 of ERa and lipid metabolism to type 2 diabetes. The same result also occurred betweenRIP140 and lipid metabolism to type 2 diabetes.
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CLC: > Medicine, health > Internal Medicine > Endocrine diseases and metabolic diseases > Islet disease > Diabetes
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