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Susceptibility NALP3 gene polymorphism and genetic gouty arthritis

Author: ZhouYuJiao
Tutor: MiaoZhiMin；LiChangGui
School: Qingdao University
Course: Internal Medicine
Keywords: Gouty arthritis NALP3 gene SNP
CLC: R589.7
Type: Master's thesis
Year: 2011
Downloads: 57
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Abstract


Objective NALP3 gene polymorphysms is related to many inherited autoinflammatory disorders, however, the relationship between that and gout has been unknown. The present case-control study was designed to genotype 9 tagSNPs and 2 mutations of NALP3 gene and susceptive haplotype related to sporadic gouty arthritis by MassARRAY.Method Preliminary screening the 3rd exon by gene sequencing and restriction fragment length polymorphism (RFLP) technique. Hapmap database was used to find the tag-SNP.Collected 480 peripheral blood samples of case and control,respecttively. Extracted DNA from peripheral blood. Amplified all the target loci areas of all samples by PCR and investigated 11 SNPs using MassArray genotyping. Hapviewer software to check the Hardy-Weinberg equilibrium of the SNP. Chi-square test was performed on allele frequency and genotypic frequency analysis; Phase statistical analysis was used to find the haplotype.Result1. NALP3 gene sequencing resultTwo SNPs were detected of the exon 3. Based on the results of Hapmap database and haploview software,9 tag SNPs (including the above 2 SNPs) and 2 missense mutations were got into the final analysis.2. Hardy-Weinberg equilibrium testHardy-Weinberg equilibrium were observed for 11 polymorphisms of 960 individuals. SNP rs10754555 were excluded from further analysis because of deviation from Hardy-Weinberg equilibrium (P< 0.05).3. Genotype and allele frequencies in cases and controlsGenotype and allele gene frequencies between case and control groups had no significant diference(P>0.05). The two missense mutations were not found in this study.4. NALP3 gene haplotypesWe estimated the NALP3 haplotypes of 8 SNPs in the cases and controls separately. Of all the haplotypes whichhad a frequency of less than 2% were excluded in the analysis. Other haplotypes covered 98% people were received. According to the result, none of haplotypes was associated with a significantly increased risk of gouty arthritis.ConclusionThese SNPs of NALP3 gene does not seem to be associated with susceptibility to gout and no specific locus mutation was detected in the group. Further studies of other loci of NALP3 gene are required to determine what role, if any, NALP3 variants play in gout susceptibility.

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CLC: > Medicine, health > Internal Medicine > Endocrine diseases and metabolic diseases > Metabolic diseases > Metabolic disorder of purine ( Purine )
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