| Background Psoriasis vulgaris(PV)—the most common clinical type, is characterised by red plaque and thick scale. The proportion of PV in the clinical phenotypes of psoriasis is about 90%. At present, the exact mechanism of psoriasis is still unknown. It is widely accepted that psoriasis is caused by the interaction of genetic factor, immunity and environment, which genetic factor also plays a very important role in the pathogenesis of psoriasis. The incidence of psoriasis in global is about 0.1~ 3%. Recently, we identified three SNPs: rs72933970 at C1orf141、rs3174808 at SON、rs6444895 at GPR160 by a large-scale whole exome array analysis. With the help of genotype-phenotype studies of psoriasis, we can have a deep understanding for the etiology and pathogenesis through the study of the relationship between gene polymorphism and clinical phenotype of PV.Objective According to the stratifying analysis of psoriasis, e.g. age of onset, the severity of disease, clinical types and family history, we performed the association study: the genes polymorphism and PV clinical phenotypes. It will help to explain the mechanism of PV and to provide the foundation for further therapy.Methods 9390 unrelated cases and 10800 unrelated controls were recruited in this study. The clinical information were collected by the same structured questionnaire. Genotype data of the 3 SNPs were obtained from the large-scale whole exome array analysis. We analyze the association between SNPs and phenotypes of psoriasis using Chi square test with SPSS20.0. Finally, we calculated the P-value, odds ratio(OR) and 95% confidence interval(95%CI). And P < 0.05 was considered statistically significant.Results 1. C1orf141(rs72933970), SON(rs3174808), GPR160(rs6444895) polymorphism was significantly correlated with PV in Chinese Han population(PC1orf141=1.23×10-08, OR=1.16;PSON=1.15×10-08, OR=1.10;PGPR160=1.44×10-12, OR =1.11).2. The frequencies distribution of genotypes and alleles for C1orf141(rs72933970) were different in early onset psoriasis cases and later onset psoriasis cases(Pallele=0.012, ORallele=0.84, 95%CIallele=0.733-0.962, Pgenotype=0.042), and also in guttate cases and plaque cases(Pallele=6.41×10-3,ORallele=0.851, 95%CIallele=0.757-0.956, Pgenotype=0.018). Except moderate group, sever group and moderate&sever group, there were differences in other phenotype cases-controls(Pgeneotype<0.05,Pallele<0.05).3. The differences in frequencies distribution of alleles for SON(rs3174808) between guttate cases and plaque cases were significant(Pallele=0.025, ORallele=0.919, 95%CIallele=0.854-0.990), but not significant in frequencies distribution of genotyp. Most allele frequencies were statistically significant between each group and control.4. The frequencies distribution of genotypes and alleles for GPR160(rs6444895) were different between mild psoriasis cases VS moderate psoriasis cases(Pallele=0.011, ORallele=0.921, 95%CIallele=0.864-0.982, Pgenotype=0.040) and mild cases VS moderate&sever cases(Pallele=0.014, ORallele=0.927, 95%CIallele=0.872-0.985, Pgenotype=0.043). Most allele frequencieswere statistically significant between each group VS. control group.Conclusions rs72933970 at C1orf141、rs3174808 at SON、rs6444895 at GPR160 are significantly associated with susceptibility of psoriasis in Han Chinese population. C1orf141(rs72933970) was associated with age of onset and skin lesion type, especially early onset and plaque psoriasis. SON(rs3174808) have an association with clinical types, particularly plaque psoriasis. GPR160(rs6444895) was associated with the severity of PV in Chinese Han population, particularly moderate and moderate&sever patients. |
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