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Association Study On Polymorphisms Of IKBKE And FYB Genes With Systemic Lupus Erythematosus In Yunnan Han Population

Posted on:2016-01-29Degree:MasterType:Thesis
Country:ChinaCandidate:X J NingFull Text:PDF
GTID:2284330470456374Subject:Genetics
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Background:Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibody, complement activation, immune complex deposition and tissue and organ damage and so on. Genetic factors play an important role in the occurrence of SLE, although the pathogenesis is not clear so far. Recently it has been reported that IKBKE polymorphisms is associated with susceptibility for SLE in Swedish and US, also FYB is associated with SLE in Brazil. Considering the racial and regional differences in SLE incidence, this study selected three SNP loci of IKBKE gene (rs12724769, rs3748022and rs17433930) and two SNP loci of FYB genes (rs10941427and rs358501) to analyze association on single nucleotide polymorphisms of IKBKE and FYB genes with the occurrence and development of SLE of Han population in Yunnan Province.Methods:The sample involved in our study were all recruited from the Second Affiliated Hospital of Kunming Medical College,including536SLE cases and630Healthy controls. DNA was extracted by phenol-chloroform method. Genotyping was performed with PCR-RFLP and the results were statistically analyzed by SPSS11.5. and Haploview4.1.Results:1. rs3748022T of IKBKE gene is associated with the occurrence of SLE in Yunnan Han population and might be a protective factor (P=0.031,OR=0.816) Meanwhile, rs3748022T is associated with the occurrence of SLE as a protective factor (P=0.013,OR=0.781) in the female group after gender stratification. Under dominant genetic model,(CT-TT) was the protective genotype for SLE (P=0.047,OR=0.795)2. rs17433930of IKBKE gene has a significant association with the occurrence of SLE in Yunnan Han population and allele G might be a protective factor (P=0.0017,OR=0.285);The association still exists in gender stratification analysis; GG genotype protect from SLE by recessive genetic model (P=0.0087,OR=0.173).3. FYB gene CG rs10941427genotype presented protective from SLE under overdominant genetic model (P=0.024,OR=0.767). Conclusion:rs3748022and rs17433930of IKBKE gene and rs10941427of FYB gene may be associated with susceptibility to SLE in the Yunnan Han population.
Keywords/Search Tags:Systemic lupus erythematosus (SLE), Single nucleotidepolymorphism(SNP), IKBKE gene, FYB gene, Yunnan Han population
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