| Background Psoriasis (OMIM *177900) is a common, chronic and recurrent, inflammatory skin disease. Both genetic and environmental factors play important roles in the pathogenesis of psoriasis, affects approximately 0.123% of the Chinese Han population. Psoriasis vulgaris (银屑病) is the most frequent clinical type, more than 90 percents. We found a distinguished correlation of rs514315 polymorphism in SERPINB8 gene with psoriasis vulgaris in Chinese Han Population by psoriasis genome-wide association study (GWAS).Objective To investigate the potential association of SERPINB8 gene polymorphism and some phenotypes of psoriasis vulgaris in Chinese Han Population basing on stratifying analysis of the age of onset , family history and clinical types, and to provide an important genetic basis in exploring the pathogenesis of psoriasis.Methods We analyzed the distributions of genotype and allele of rs514315 (polymorphic site within SERPINB8 gene) in 7,727 cases and 11,313 normal controls, which some derived from the psoriasis GWAS carried out by our group (1,031 cases and 1,120 normal controls)Was genotyped by using the Illumina Human 610一Quad BeadChips and the other from Replication 1(4,338 cases and 5,058 normal controls) and .Replication 2(1,858 cases and 5,135 normal controls)were conducted by using Sequenom MassArray system and Biosystems TaqMan assays. The appropriate application of social science statistical software package SPSS 10.0 was used for statistical analysis of data. Chi square test was used for comparing genotypic or allelic frequencies distribution among the groups.Results 1. The genotypic frequencies of rs514315 (polymorphic site within SERPINB8 gene) were of statistical significance between the cases and the controls (χ2 =30.22,df=2,P= 2.74×10-7), there was a similar trend for the allelic frequencies (χ2 =30.15,df=1,P= 3.99×10-8,OR 1.15,95%CI 1.09-1.20). 2. The genotypic and allelic frequencies of rs514315 were statistical significance between the pediatric age of onset cases and controls (χ2 =19.23,df=2, P= 6.67×10-5;χ2 =19.08,df=1, P=1.25×10-5,OR 1.21,95%CI 1.11-1.31). The genotypic and allelic frequencies of rs514315 were also statistical significance between the adult age of onset cases and controls(χ2 =19.54,df=2,P=5.72×10-5;χ2 =19.46,df=1,P=1.02×10-5,OR 1.13,95%CI 1.07-1.19). However, there were no statistical significance between the pediatric age of onset and adult age of onset cases (χ2 =2.18,df=2,P=0.34;χ2 =2.10,df=1,P=0.15,OR 0.94,95%CI 0.86-1.02)3. The genotypic and allelic frequencies of rs514315 were statistical significance between the the familial cases and controls(χ2 =17.96,df=2,P=1.26×10-4;χ2 =17.08,df=1,P=3.59×10-5,OR 1.19,95%CI 1.10-1.30). The genotypic and allelic frequencies of rs514315 were also statistical significance between the sporadic cases and controls (χ2 =20.82,df=2,P=3.02×10-5;χ2 =20.54,df=1,P=5.84×10-6,OR 1.13,95%CI 1.07-1.19). However, there were no statistical significance between the familial and sporadic cases (χ2 =2.45,df=2,P=0.29;χ2 =1.31,df=1,P=0.25,OR 0.95,95%CI 0.87-1.04).4. The genotypic and allelic frequencies of rs514315 were statistical significance between the chronic plaque cases and controls (χ2 =29.62 ,df=2,P=3.69×10-7;χ2 =29.55,df=1,P=5.43×10-8,OR 1.16,95%CI 1.10-1.23). The genotypic and allelic frequencies of rs514315 were also statistical significance between the acute guttate cases and controls (χ2 =6.02,df=2,P=0.049;χ2 =6.00,df=1,P=1.4×10-2,OR 1.10,95%CI 1.02-1.20). However, there were no statistical significance between chronic plaque cases and the acute guttate cases (χ2 =1.31, df=2,P=0.52;χ2 =1.31,df=1,P=0.25,OR 1.05,95%CI 0.97-1.15).Conclusions 1. The polymorphism of SERPINB8 gene (rs514315) is associated with the susceptibility of psoriasis vulgaris in the Chinese Han population; 2. The polymorphism of SERPINB8 gene (rs514315) may be not associated with age of onset,family history and clinical types of psoriasis vulgaris. |
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