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Association Studies Of Hepatic Enzyme And Lipid Metabolism SNPs In The Osteonecrosis Of The Femoral Head

Posted on:2012-01-09Degree:MasterType:Thesis
Country:ChinaCandidate:D W ChenFull Text:PDF
GTID:2254330401456036Subject:Clinical Medicine
Abstract/Summary:PDF Full Text Request
BackgroundOsteonecrosis of femoral head(ONFH) is caused by the lack of partial blood supply of femoral head, following by the oxygen insufficiency and necrosis of bone cell, the break of bone trabecular and femoral head damage. ONFH can be divided into2groups, traumatic and nontraumatic, and the nontraumatic ones can summarized as alcoholic steroid induced and idiopathic. Jones had conclude that steroid induced ONFH took up1/3of nontraumatic femoral head necrosis. Although many scientists had done lots of work in the pathogenesis and pathophysiology of ONFH, the exact mechanism of ONFH is still not clear.With the development of molecular biology, research had found that the gene polymorphism of hepatic enzyme and lipid metabolism is involved in the pathogenesis of ONFH.Objects1. To identify the patients ratio of different ONFH types.2. To identify the relationship between candidate genes in the hepatic enzyme and lipid metabolism and ONFH with SNPs.3. To identify the relationship between the SNPs and different types of ONFH patients.4. To identify the relationship between SNPs and different races.MethodsAccording to the studies of ONFH, we chose the genes of hepatic enzyme (CYP3A4) and lipid metabolism (ApoB) as candidate genes. We genotyped13reported SNPs present in these genes among64ONFH patients (23steroid induced,18alcohol induced and23idiopathic patients) and100healthy controls with detailed clinical information. All the data of13SNPs with polymorphism were analyzed by the association analysis based on a single SNP, the association analysis between phenotypes and SNPs, and the association analysis between SNPs and different ONFH types. Results1. There were no relationship between the rs4646440、rs4646437、rs2246709、 rs676210、rs550619、rs520354、rs11676704、rs12720841、rs2854725、 rs1801702、rs1469513、rs1367117and ONFH.2. In the association analysis between SNPs and ONFH based on alleles, we got the positive SNP rs2163204, which lied in the ApoB gene.3. In the association analysis between the genotypes and SNPs, no positive SNPs are found.Conclusion1. There were relationships between gene polymorphism and races.2. The rs2163204of ApoB gene of the chromosome2is positive in the association analysis; it seems to be related with the pathogenesis of ONFH.3. The genotypes of candidate SNPs were the same in the patients and controls.
Keywords/Search Tags:nontraumatic osteonecrsis of femoral head, single nuclearpolymorphism, hepatic enzyme, lipid metabolism, association analysis
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