Association Between Rs1265181 Polymorphism Within PSORS1 And Phenotype Of Psoriasis In Chinese Han Population

Background Psoriasis is a common inflammation cutaneous disorder characterized by red scaly patches and abnormal epidermal proliferation with a prevalence of 0.123% in Chinese Han population. So far there are more than 3.5 million psoriasis patients. The pathogenesis of psoriasis remains unclear. Now most people tend to think it is a complex disease and caused by the interaction between genetics, genetical and environmental factors. PSORS1 that lies within the major histocompatibility complex (MHC) on chromosome 6p21 is the major susceptibility locus for psoriasis and has been confirmed by many groups. Recently, our group performed a Genome-wide association study (GWAS) in Chinese Han population and observed strong association within the MHC region (PSORS1), with the most significant evidence at rs1265181.Objective To study the association between SNP rs1265181 within PSORS1 locus and some phenotypes of psoriasis in Chinese Han population, lay solid foundation for the pathogenesis of psoriasis.Methods Using the genotyping data from genome-wide association study in 1139 cases and 1132 controls using the Human 610-Quad BeadChips for psoriasis. Clinical data were compiled from questionnaires. All the data were inputted into a database set up by Epi Info 6.0 package. Then the data were statistically analyzed by Statistic Package of Social Science (SPSS 15.0). Results 1. The distribution of alleles and genotypes for rs1265181 were significant differences between cases and controls (P=1.42×10-158, 5.48×10-230, respectively). Then cases were stratified from onset, family history and lesion type, there were also significant differences between clinical subgroups and controls in distribution of allele and genotype (all P<1.0×10-100). 2. The distribution of alleles and genotypes for rs1265181 were significant differences between familial cases and sporadic cases groups (χ2=6.08, P=0.014;χ2=17.64, P=1.0×10-4; respectively). 3. There weren't significant differences between the pediatric onset psoriasis patients and the adult onset psoriasis patients in distribution of allele and genotype of rs1265181 (χ2=1.99, P=0.158;χ2=5.81, P=0.055; respectively). 4. The difference in frequencies distribution of allele and genotype for rs1265181 between the guttate and plaque cases did not reach the statistical significance (χ2=1.25, P=0.263;χ2=5.24, P=0.073; respectively).Conclusion The results indicate that the SNP rs1265181 within PSORS1 is associated with psoriasis susceptibility in Chinese Han population, especially for the family psoriasis, but not associated with onset and lesions type of psoriasis.