Lack of an association of PD-1 and its ligand genes with Behcet's disease in a Chinese Han population

• Published in: PloS one 2011-10, Vol.6 (10), p.e25345-e25345
• Main Authors: Meng, Qianli, Guo, Haike, Hou, Shengping, Jiang, Zhengxuan, Kijlstra, Aize, Yang, Peizeng
• Format: Article
• Language: English
• Subjects: Adult; Alleles; Analysis; Antigens; Apoptosis; Autoimmune diseases; B cells; Behcet Syndrome - genetics; Behcet's syndrome; Biology; Case-Control Studies; Cell death; China; Disease; Disease susceptibility; Ethnic Groups; Female; Gender; Gene Frequency; Genes; Genetic aspects; Genetic Predisposition to Disease; Genetic research; Hospitals; Humans; Laboratories; Ligands; Lupus; Lymphocytes; Male; Medical research; Medicine; Patients; PD-1 protein; PD-L1 protein; Polymerase Chain Reaction; Polymorphism; Polymorphism, Restriction Fragment Length; Population; Population studies; Programmed Cell Death 1 Receptor - genetics; Restriction fragment length polymorphism; Rheumatoid arthritis; Rheumatology; Single nucleotide polymorphisms; Single-nucleotide polymorphism; Studies; Tumor necrosis factor-TNF; Vein & artery diseases
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0025345

Behcet's disease is a chronic, multi-systemic autoimmune disease. Programmed cell death 1 (PD-1) gene is one of non-human leucocyte antigen genes. It has been demonstrated to be associated with several autoimmune diseases. However, only a few studies have addressed the association of ligand genes of PD-1, PD-L1 and PD-L2 with autoimmune disease. The purpose of this study was to analyze the potential association of the PD-1 and its ligand genes with Behcet's disease in a Chinese Han population. Four single-nucleotide polymorphism (SNPs) rs2227981 and rs10204525 of PD-1, rs1970000 of PD-L1 and rs7854303 of PD-L2 were genotyped in 405 Behcet's patients and 414 age-, sex-, ethnic-matched healthy controls using polymerase chain reaction-restriction fragment length polymorphism assay. The results revealed that there were no significant differences in the genotype and allele frequencies of PD-1 rs2227981 and rs10204525 between the Behcet's patients and controls. A similar result was found for PD-L1 rs1970000 versus healthy controls. Only the C allele and the CC genotype of PD-L2 rs7854303 were identified in patients and controls. Stratification analysis based on gender and clinical findings did not show any associations between PD-1 or its ligand polymorphisms and Behcet's disease. None of the currently studied SNPs, PD-1 rs2227981 and rs10204525, PD-L1 rs1970000 and PD-L2 rs7854303, are associated with the susceptibility to Behcet's disease in a Chinese Han population. More studies are needed to confirm these findings in Behcet's patients with other ethnic backgrounds.