Association Between Polymorphism Of PXK Gene And Systemic Lupus Erythematosus Susceptibility In Chinese Han Population

Background Systemic lupus erythematosus (SLE) is an autoimmune disease with various clinical manifestations, involving multiple systems. The pathogenesis has not been entirely cleared. SLE is a polygenic disease, which is related with genetic, immune, viral infections, drugs, hormones and so on. Genetic factor may play an important role in the pathogenesis of SLE. In the past two decades, many groups had mainly revealed of susceptibility genes by genome-wide scanning and candidate gene study, but most results were not consistent. Online Mendelian Inheritance in Man (OMIM) embodies 13 SLE susceptibility loci. There are 11 loci which have found by linkage analysis and genome-wide scan: 1q41-42 (SLEB1), 2q37.3 (SLEB2), 4p16-15.2 (SLEB3), 12q24 (SLEB4), 13q32 (SLEB5), 16q11.2 (SLEB6), 20p12 (SLEB7), 20q13.1 (SLEB8),1q32 (SLEB9), 7q32(SLEB10), 2q32.2-q32.3(SLEB11). We had found a number of susceptibility genes by fine mapping and candidate gene approach, for example: PTPN22, CRP, FCGR2A, FCGR3A, FCGR2B, STAT4, IRF5, TLR5, ITGAM-ITGAX, FAS, PARP, PDCD1, HLA-DRB1, C2 and C4.In recent years, as The International HapMap Project had finished and lower-cost, highly efficient and high-throughput genotyping technologies were appeared, the way of searching for the susceptibility gene of complexity disease in the level of genome-wide has become possible. It was also called Genome-wide association study (GWAS).This method has become the most effective method to study complex disease. So far, there are many GWAS about SLE. Harley et al had reported that a single nucleotide polymorphism (SNP)-rs6445975 in PXK gene was related to SLE in Europeans (P=7×10-9). SLE is a complex disease, with strong racial differences and genetic heterogeneity.In order to investigate the association between rs6445975 and SLE in Chinese Han population,we extracted the data of PXK gene from SLE GWAS results (unpublished), and explored the association between polymorphism of PXK gene and SLE susceptibility in Chinese Han population.Objective To investigate the association between polymorphism of PXK gene and systemic lupus erythematosus (SLE) susceptibility in Chinese Han Population.Methods The genotyping was done by using the Illumina Human 610-Quad BeadChips in 590 cases of SLE and 1,135 controls, then we selected genotyping data of 7 SNPs in PXK gene. Statistical analysis was performed by the Plink 1.03 software.Results There were no significant differences between cases and normal controls in allele frequencies of 7 single nucleotide polymorphisms (SNPs) (rs6445975, rs7622074, rs6786088, rs12637163, rs9817356, rs11710823 and rs6767291) in PXK gene (P>0.05).Conclusion It suggests that polymorphism of PXK gene may not be related to susceptibility of SLE in Chinese Han Population.