Correlation Analysis Of HLA-DPB1 Gene And BTNL2 Gene Within MHC Region With Clinical Phenotype Of Psoriasis Vulgaris In The Chinese Han Population

Background Psoriasis is a chronic complex disease involving multiple genes and multiple factors.At present,the exact pathogenesis of psoriasis is not clear,which caused by the common interaction such as genetic factors,immune factors,skin barrier function and environmental factors.Psoriasis vulgaris is the most common clinical manifestation.The world population is about 1-3% by the influence of psoriasis.The China psoriatic population prevalence rate is about 0.123%.In the latest study,a deep sequencing of the MHC region of 9906 healthy controls and 8874 patients with psoriasis in Chinese Han population,we found HLA-DPB1*05:01 gene and BTNL2 gene were susceptibility gene for psoriasis.Then we use 9906 healthy controls and 8874 patients with psoriasis vulgaris which use stratified analysis of clinical classification（gender,family history,age of onset,type of onset,geographic area）to objective to investigate the association between HLA-DPB1*05:01,BTNL2 genotype and clinical phenotype in patients with psoriasis vulgaris.Objective According to age at onset（early onset and late onset）,gender（male and female）,type of onset（drop type and plaque type）,family history（positive and negative）and geographical（Southern and northern）we divided Psoriasis vulgaris into different clinical phenotypes.We discuss the relationship between HLA-DPB1*05:01gene and BTNL2 gene polymorphism and clinical phenotypes of psoriasis vulgaris in Chinese Han population.Method In this study,9906 healthy controls and 8874 patients with PV were derived from a sample of the whole genome sequencing.In this study the gender,age,region,family history and skin lesion types,the clinical phenotype was analyzed.We use Plink 1.07 and SPSS 20 software to analyze the frequencies of allele and genotype distribution between the control group and the case group and then obtained the p value,odds ratio（or value）,and the confidence interval（95% CI）.We use α=0.05 as a standard to determine whether the statistical significance.Results 1.Allele T of HLA-DPB1*05:01 was the minor allele in this study（35.9% vs36.4% in case and control groups）.In the cases and the controls analysis,the gene of HLA-DPB1*05:01 showed significant differences between the type of non-plaque(p=3.914×10^-2,or=0.9335)and the type of plaque as well as north region (p=1.182×10^-3,or=0.9108)and south region.In the case-only analysis,the gene of HLA-DPB1*05:01 was significant correlation with the north region（p<0.05,or=1.134）.2.Allele T of BTNL2 was the minor allele in this study（5.8% vs 6.3% in case and control groups）.The T allele frequency of BTNL2 was significantly lower in patients(P=4.72×10^-3,OR=0.91).The gene of BTNL2（rs42355746）,which was analyzed between the cases and the controls,showed significant differences between genders(P=2.563×10^-2,or=0.8897),skin type(P =2.469×10^-2,or=0.8558),age of onset(P=9.399×10^-3,or=0.8856)as well as family history(P=1.51×10^-4,or=0.772).When in the case-only analysis,the gene of BTNL2（rs42355746）showed significant association with family history(P=1.768×10^-3,or=0.757)and age of onset(P=3.818×10^-2,OR=1.195).Conclusion The gene of HLA-DPB1*05:01 was significant correlation with the north region（p<0.05,or=1.134）.The gene of BTNL2（rs42355746）showed significant association with family history(p=1.768×10^-3,or=0.757)and age of onset(P=3.818×10^-2,OR=1.195).