Association Study Of ST18and Pemphigus In Chinese Population

Background: Pemphigus is a serious auto-immune blistering disease caused byautoantibodies directed against antigens on the surface of keratinocytes interfering withkeratinocyte adhesion. There are two major types: pemphigus vulgaris and pemphigus foliaceus.Epidemiological studies and candidate case–control studies in the major histocompatibilitycomplex region have proven that host genetic susceptibility plays a key role in the pathogenesisof pemphigus. Recently, Sarig et al. performed a genome-wide association study (GWAS) ofPV and found that ST18gene was significantly associated with PV in Jewish and Egyptianpopulations, but not in a German population.Objective: Using taqman genotyping to investigate the association of single nucleotidepolymorphisms (SNP) rs2304365located in the region of ST18with pemphigus in a Chinesepopulation.Methods: A total of736subjects were Han from northern China consisting of144PVpatients,117PF patients and475healthy controls. After informed consent and approval of thehuman medical and ethics committee of Shandong Provincial Institute of Dermatology andVenereology, genomic DNA was extracted from the peripheral blood. Single SNP weregenotyped by TaqMan SNP Genotyping Assay Kit on the GeneAmp7900Sequence DetectionSystem using specific TaqMan probes. After adjusting for age and sex, statistical analysis wasperformed using logistic regression in PLINK.Results: We failed to detect any significant association between rs2304365and PV(P=0.8088, OR=1.065). PF patients were genotyped for the same SNP, which did not show anyevidence of risk enrichment either (P=0.379, OR=1.276).Conclusion: We confirmed Chinese population show no remarkable association with the SNP rs2304365in the region of ST18and pemphigus that suggested the relationship of ST18and pemphigus may action in a population-specific manner.