A Study Of PDHX-CD44Loci Association With Systemic Lupus Erythematosus In Chinese Han Population

Background Systemic lupus erythematosus (SLE) is a complex autoimmune disorderwhich is characterized by autoantibody production, complement activation andimmune-complex deposition, resulting in multiple organ systems damage. Theprevalence of SLE ranges from30to70cases per100,000persons in Chinese. Itpredominantly affects female (at a9:1ratio for female and male), particularly duringchildbearing years. The clinical manifestations of SLE are complicated which caninvolve skin, joints, kidneys and central nervous system so that the disease diagnosis,treatment and prevention are impacted. The etiopathology of SLE remains unclear,however, genetic and environmental factors are thought to contribute to thedevelopment of this disease. SLE shows a strong familial aggregation, the estimatedconcordance rate for monozygotic twins (~30%) is nearly ten times than that fordizygotic twins (~3%), which suggest that genetic component plays an important role inthe development of SLE.With the gradual application of Genome-wide association study (GWAS), more andmore SLE susceptibility genes/loci have been identified, therefore, GWAS has beenproven to be a powerful tool to identify susceptibility genes for common complicateddiseases. In2011, Lssard identified a novel variant (rs2732552, located between PDHXand CD44at11p13) that was significantly associated with SLE in the Europeanpopulation (OR=0.83, P=9.03E-08). It is known that SLE is a disease with strong racialdifferences and genetic heterogeneity. To investigate the association between rs2732552and SLE in Chinese Han population, we genotyped the intergenic SNP rs2732552for replication by using the Sequenom MassArray system.Objective To confirm the association between polymorphism of PDHX-CD44and SLEsusceptibility in Chinese Han Population.Methods The study genotyped SNP rs2732552in2,139SLE patients of Chinese Hanand1,757control subjects by using the Sequenom MassArray system, and then used thePlink1.07software for statistical analysis and stratification analysis.Results There was a statistical difference of minor allele frequency (MAF) forintergenic SNP rs2732552in PDHX-CD44between cases and controls of Chinese Hanpopulation (P=2.94E-05, OR=0.80); Case-only stratified analysis in this study did notproduce any significant difference between rs2732552and clinical phenotypes(P>0.05).Conclusions It is suggested that polymorphism of PDHX-CD44may be related tosusceptibility of SLE in Chinese Han Population, which illustrates that there existssimilar genetic foundation between Chinese Han and Caucasian population.