| Background Psoriasis is a common chronic, recurrence and complex skin disease with erythema, scales as the main performance in the field of skin diseases. The World Health Organization listed it as one of the three major chronic problem of 20 th century human skin diseases. Psoriasis is more commonly occurred in young adults, there are more than 300 million psoriasis patients in China and its annual increase of 0.1 million cases of speed increments. The disease is easy to relapse, which is difficult to cure.Furthermore, about 10%-40% of patients have joint injury, who often associated with tumors, autoimmune diseases, and other disease. The majority of patients with lifelong illness, poor quality of life. The pathogenesis of psoriasis is not clear, there is no cure for the drug. It is generally considered that psoriasis is a multi gene disease with genetic and environmental interactions, and the genetic factors play an important role in the pathogenesis of psoriasis. The international studies on the susceptibility of psoriasis have been going on for more than 10 years. Up to now, the genetic linkage analysis has been applied to different researchers, and 12 psoriasis susceptibility loci have been identified by the whole genome scan. Since 2008, there have been 15 papers published in the world on the genome association study(GWAS) of psoriasis, and found a series of susceptibility genes that may be related to the pathogenesis of psoriasis. This research team previously carried out a large-scale whole exome array analysis of psoriasis, suggesting that the BRAP gene rs3782886 may be associated with psoriasis.The genotype phenotype correlation study will further analyze the relationship between BRAP gene rs3782886 genetic model, genotype, allele and psoriasis clinical phenotype in Chinese Han population.Objective According to the hierarchical analysis clinical phenotype is divided into subtypes of onset age, family history, type and severity of disease, analysis to explore the relationship between ERAP gene rs3782886 polymorphism and Chinese patients with psoriasis in Chinese Han population of the clinical phenotype.Method Our study including 16,876 cases of psoriasis vulgaris and 22,920 cases of healthy controls were derived from a large-scale whole exome array analysis. The blood samples of patients and controls collected from Hefei, Wuhu, Shanghai,Shenyang, Guangzhou, Hangzhou, Beijing and other provinces and cities. All patients were Chinese Han population, the diagnostic criteria were according to the clinical manifestations and Histopathology of psoriasis. Each patient had two clinical dermatologist diagnosis as psoriasis. Collecting the basic information and clinical phenotype information of all the research objects through a structured questionnaire survey. SPSS 20.0 software were used to analyze the difference between the genotype and clinical phenotype of patients with different clinical phenotypes between case group and control group.Results Analysis of the genetic pattern suggests the dominant model provided the best fit for BRAP gene rs3782886(P=4.90×10-5,OR=0.92, 95%CI: 0.88-0.96), the frequency of minor allele G was significantly lower in patients than in controls(18.2%vs. 19.4%, P=1.90 ′ 10-5, OR=0.93, 95% CI: 0.89-0.96). The results of stratified analysis showed that the rs3782886 polymorphism of BRAP gene was related to the type of psoriasis. When comparing guttate and plaque subphenotypes with controls,there was statistical significance(P = 2.37×10-4, OR=0.90, 95%CI: 0.84-0.95).Compared with at age ≤40 years and patients at the age >40, no statistical significance between the two groups(P=6.20 ×10-2, OR=1.07, 1 95%CI: 1.00-1.16). Compared between Family history positive and negative of psoriasis patients groups there is no statistical significance(P=8.10×10-2, OR=0.93, 95%CI: 0.86-1.01). Compared mild between moderate psoriasis patients, the two groups are no statistical significance(P=5.19×10-1, OR=0.98, 95%CI =0.92-1.04). Compared severe between moderate psoriasis patients, the two groups are no statistical significance(P=3.03×10-1, OR=1.07,95%CI =0.94-1.21).Conclusions This study suggested that the susceptibility loci might not only play important roles in the development of psoriasis, but also contribute to the type of psoriasis lesion. |
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