| Background：Systemic lupus erythematosus （SLE） is a kind of chronic, inflammatoryand a variety of organs of systemic autoimmune disease.Its clinical realizablediversification, with its own antibody, complement activation, inhibitory T lymphocytesreduced their reactivity lymphocytes increase and multiple organ damage as features.The etiology and pathogenesis is unclear.Now we think it is related to genetic, immune,virus infection, drug and hormonal factors.In recent years, as The International HapMap Project had finished and lower-cost,highly efficient and high-throughput genotyping technologies were appeared, the way ofsearching for the susceptibility gene of complexity disease in the level of genome-widehas become possible. It was also called Genome-wide association study （GWAS）.Thismethod has become the most effective method to study complex disease. So far, thereare many GWAS about SLE. Found many new closely related with SLE happen of gene,such as I PXK, TGAM KIAA1542, ETS1, IKZF1, RASGRP3, SLC15A4and TNIP1,etc. Harley et al had reported that a single nucleotide polymorphism （SNP）-rs6445975in PXK gene was related to SLE in Europeans(P=7×10-9). But in Hong Kong, SouthKorea and Thailand and other Asian crowd was not found to have relevance,controversial. In order to investigate the association between PXK and SLE in ChineseHan population, In this study, at home and abroad in recent years, research resultsselected7SNPs from PXK gene, and explored the association between polymorphismof PXK gene and SLE susceptibility in Chinese Han population.Objective: To study PXK gene polymorphism and SLE susceptibility in Han Chinese.Methods：The genotyping was done by using the MALDI-TOF（matrix-assisted laserdesorption/ioni-zation time-of-flight mass spectrometry, MALDI-TOF） technology in567cases of SLE and533controls, then we selected genotyping data of7SNPs in PXKgene.The association,disequilibrium between SNPs with disease was analysised by Haploview4.1software SPSS17.0software and PHASE2.1software.Results：1. SNPs rs12486031, rs12629939, rs2138239, rs4075152, rs4681678and rs4681852of PXK gene in the control group population are in line with HWE equilibrium （P>0.05）, the sample is a group representative2. As to SNP rs4075152allele frequency，there was statistically significant betweenSLE group and control group allele （P=0.046）3. There were no significant differences between cases and normal controls in allelicand genotypic frequencies of others six SNP （rs12486031、rs12629939、rs2138239、rs4681678、rs4681852'rs6445975）in PXK gene （P>0.05）.4. Through rs12486031、rs12629939、rs2138239、rs4075152、 rs4681678、rs4681852and rs6445975linkae disequilibrium analysis, the results showed that ahigh degree of linkage was revealed between seven SNPs.5、7SNP haplotype were analysised, we found Haplotype GTCATTG in SLEpatients and normal controls no significant difference between （P>0.05）;ACAGAAT this haplotype between SLE patients and normal controls werestatistically significant （p<0.05）, suggesting that haplotype ACAGAAT may berelated to susceptibility to SLE.Conclusions：1、The rs4075152polymorphism of PXK may be related to susceptibility of SLEdisease.2、The rs12486031、rs12629939、rs2138293、rs4681678、rs4681852and rs6445975polymorphism of PXK may not be correlated with the susceptibility of SLEdisease.3、The result shows that there is strongly linkage disequilibrium between7SNPs.4、7SNPs haplotype analysis showed ACAGAAT haplotypes of susceptibility may beassociated with SLE... |
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