| Background Atopic Dermatisis(AD) is a common chronic inflammatory, itching, inflammatory skin disease, AD is considered to be a complex disease with environment and genetics plays an important role in the development of AD. It is considered to be caused by abnormal cutin cell differentiation leads to skin barrier dysfunction and immune deficiency. AD clinically can be divided into three periods including infancy, childhood and young adulthood. Hanifin and Rajka diagnostic criteria pointed out that the AD in addition to the four main characteristics, can also with 23 kinds of minor symptoms. Genetic and epidemiology study of AD proving that it belongs to polygenic inheritance pattern, genome-wide linkage analysis confirmed a large of AD vulnerable areas and susceptibility genes. Since 2009, from the first genome-wide Association analysis of the AD(Genome Wide Association Study, GWAS) research, at present a total of two Germany, Japan, Europe and Chinese research were found 19 AD susceptibility genes. Although the AD GWAS studies have found a lot of AD susceptibility genes, but the relationship of these susceptibility genes with the AD clinical phenotype study very little. Our team prior GWAS rs17173197 PRKAG2 gene may be related to the AD. This study will further explore the genetic model of gene analysis PRKAG2 rs17173197, genotype and allele relationship with the AD clinical phenotype of Chinese Han population.Objective To investigate the genetic model of PRKAG2 gene rs17173197 and analyzethe relationship of it’s genotype with the phenotypic traits of aopic dermatitis in the Chinese Han population.Method A total of 4 480 AD patients and 12 319 controls, study subjects were selected from our previous AD GWAS in the Chinese Han population using Illumina Human610 chips and Sequenom Mass Array. All blood samples of patients were selected in November 2001- May 2010 in Shanghai, guangzhou, hangzhou, hefei, shandong, Beijing and other provinces and cities that have cooperation with our unit hospital dermatology clinics. Diagnostic criteria is accordance to general international Hanifin- Rajak diagnostic criteria. All of the patients are the han population and all statistical information of study is through a structured questionnaire to collect.The case group and the control group match in age and region.Using Illumina Human610 chips and Sequenom Mass Array gene platform and 4480 AD cases and 12319 cases genotyping successful, using SPSS20 statistical analysis comparing distribution of genotype frequency in patients with AD and controls, and compare the correlation between different alleles and genotype with the clinical phenotypeResults The frequency genotype GG,GA of SNP rs17173197(PRKAG2) was statistically significant between the case group and control group(PGGgenotype =1.76×10-9;PGAgenotype=3.84×10-4). Analyses of the genetic model revealed that the most suitable model describing the association of rs17173197 polymorphism with AD is additive model(P=3.09×10-22). The tratified analyses showed that G allele frequency distribution of rs17173197 polymorphism is associated with south patients(P =1.23×10-3,OR=1.18, 95%CI=1.07-1.30), familial AD(P=4.58×10-4,OR=0.82, 95%CI=0.73-0.92), concomitant xerosis(P=8×10-3,OR=1.14, 95%CI=1.04-1.26). However, we failed to observe any significant association of the risk allele G of rs17173197 with other subphenotypes in AD.Conclusions Our study suggested MAF T of rs17173197(PRKAG2) was significantly associated with atopic dermtitis with southern area, xerosis and familial atopic dermatitis. The association of rs17173197(PRKAG2) and other phenotype of AD was not yet found. |
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