Association Between Polymorphisms Of PTPN22 Gene And Vitiligo Susceptibility In Chinese Han Population

Background Vitiligo (OMIM: #193200) is an acquired, sometimes familial depigmentary disorder, presenting white patches and/or gray hair of the skin and hair that results from selective destruction of melanocytes. To date, the pathogenesis of vitiligo is unknown although there are many theories about its etiology, including self-destructive, biochemical, neural, autoimmune, and genetic hypotheses. In resent years, genetic contributions were revealed as the most important causative factor of vitiligo. Moreover, scientists hold the other hypotheses of vitiligo began to seek for supporting evidence from genetics and something were found. Because of the different genetic background, it is unlikely that all vitiligo patients share an inheritant basement between races or ethnic groups. Furthermore, it is also unknown whether all kinds of vitiligo are consistent with each other in respect of the pathogenesis, as we know vitiligo is clinically classified as being focal, vulgaris, universal, acrofacial, and segmental. In most previous studies, clinical presentations of vitiligo were often omitted, which might draw incorrect conclusions on vitiligous genetics. up to date, four susceptibility loci of European and American Caucasian 17p13(SLEV1),1p31(AIS1),7q(AIS2),8p12(AIS3)and three susceptibility loci of Chinese Han population 4q13-4q21,22q12和6p21-6p22 have been founded on different chromosomes.In recent years, following of The International HapMap Project had finished and lower-cost, highly efficient and high-throughput genotyping technologies were appeared, the way of searching for the susceptibility gene of complexity disease in the level of genome-wide has become possible.It also was called whole-genome association analysis (GWAS).This method has become the most effective method to study complex disease.The Vitiligo susceptibility gene targeting genome-wide scan study began in 2001, Nath et al have performed a genome-wide scan in 95 members for 16 patients with systemic lupus erythematosus (SLE) and vitiligo families, they found at the 17p13 between markers D17S974 ~ D17S1298 exist with vitiligo-related SLE susceptibility locus, which has named SLEV1 with OMIM. From then on, 1p31(AIS1),7q(AIS2)and 8p12(AIS3)of Vitiligo susceptibility gene locus have been found. Foreign reports of vitiligo susceptibility genes have AIS1, VIT1, ESR1, AIRE, GTPC1, MITF, CTLA-4, CAT, SLEV1, COMT, PTPN22 and HLA. But in china, vitiligo is still only a correlation with the HLA study. In 2005, Canton et al found the association between PTPN22 gene polymorphism rs2476601 (R620W) and vitiligo. Vitiligo is a complex disease, with strong ethnic differences and genetic heterogeneity. In order to investigate the association between PTPN22 gene and vitiligo in Chinese Han population. We extract the data of PTPN22 gene from pre-screening of vitiligo GWAS results (unpublished), and investigate the association between polymorphisms of PTPN22 gene and vitiligo susceptibility in Chinese Han population.Objective To investigate the association between PTPN22 gene and vitiligo susceptibility in Chinese Han population.Methods The genotyping was done by using the Illumina Human 610-Quad BeadChips in 1 123 cases of vitiligo and 1 227 controls. Statistical analysis was performed by the Plink 1.03 software.Results Association analysis showed that there were no significant differences between the case group and the normal control group in the allele frequency of 5 single nucleotide polymorphisms(SNPs)( rs3811021,rs2476599,rs3789607,rs1217407,rs1217418) in PTPN22 gene (P>0.05).Conclusion The results indicated that there were no association between the 5 SNPs in PTPN22 gene and the susceptibility of vitiligo in Chinese Han population.