Association Study Of UBLCP1 And Other Genes Insertion/Deletion Variants With The Susceptibility Of Psoriasis In Chinese Han Population

Background: Psoriasis is a chronic inflammatory skin diseasecaused by many factories It is one of the most common diseases in dermatology. The main characteristics of psoriasis are epidermal proliferation and inflammation. The clinical feature of PV is the red papules or plaques covered with multilayer silvery white scales, with varying degrees of itching. The disease is easy to be relapsed, difficult to be cured, yet no specific treatment. Psoriasis has been made one of the chronic skin diseases by WHO. The risk factors of trauma, sunshine and drugs can cause psoriasis. However, the pathogenesis of this disease has not been completely discovered. Researchers generally believe that the abnormal immune system plays an important role in the occurrence of PV. The development of PV is caused by genetic and environmental factors, but genetic factors are more important. Researchers at home and abroad using linkage analysis, exon-chip, GWAS, and Meta-analysis found lots of susceptibility genes. Almost all of the susceptibility loci now being found are SNPs. However, insertion/deletion is another important variation type of PV except the SNP. In our previous study, six In Dels genetic variation through the targeted sequencing, were found significant correlation with PVsusceptibility（P<10E-03）. The 6 In Dels are located at UBLCP1, STAT3, BRD3, PTCHD3, SGSH, NFKBIZ. This time we use the Sequenom platform to verify the previous results, and further analyzes the relationship between genes and phenotypes.Objective: This research is aimed to verification the 6 In Dels. And further analyzes the relationship between genes and phenotypes of psoriasis, according to the stratifyinganalysis of the age of onset, severity, family history and clinical types.Method: Previously our team has found 6 In Dels significantly related to psoriasis using the targeted sequencing technology. This study selected 2208 cases of Pv and healthy 2208 controls, using Sequenom platform to replication.Then using PLINK1.07 get the meaningful In Dels. After, we research the correlation between genotype and phenotype of psoriasisusing 12154 cases and 12114 controls.Results: 1.The target sequencing analysis of the results, multiple testing correction are still significant variation in the genes that respectively are UBLCP1（chr5₁58639126）、 STAT3（chr17₃7729176）and BRD3（chr9₁35896602）. The most significant gene is UBLCP1（chr5₁58639126）,P=1.69E-4(OR（95%CI）=1.19（1.09-1.30）.We combined the results of targeted sequencing and Sequenom platform.And the result about UBLCP1 is P=2.75E-14,OR（95%CI）=1.16（1.11-1.20）.The results shows that the variation of gene UBLCP1 has significant relationship with psoriasis. 2 The study is found that the time of onset, the psoriasis’ s incidence degree, type of disease, and has or no family history in Chinese Han population of has no significant differences with the gene UBLCP1（chr5₁58639126）（Page of onset=8.90E-01,ORage of onset=0.99,95%CIage of onset=0.90-1.09）.Conclusion:UBLCP1 gene（chr5₁58639126）is significantly associated with susceptibility of psoriasis in Chinese Han population.Psoriasis phenotype（age of onset, family history, skin lesion type, extent of disease,） has no significant correlation with UBLCP1（chr5₁58639126） STAT3（chr17₃7729176） and BRD3（chr9₁35896602）...