Association Analysis Between Single Nucleotide Polymorphisms Of CLEC16A Gene And Systemic Lupus Erythematosus In Chinese Han Population

Background Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by involvement of multiple organism and system and diversified clinical manifestation. The pathogenethsis of SLE remains unknown; however, it's currently presumed that multiple factors like susceptibility genes, environmental factors, gender, body immune response to stimulus and quantity of mediators of inflammation lead to SLE. Among these factors, genetic factors play an important role in the pathogenesis of SLE. Online medelian inheritance in man (OMIM) database has now included 18 SLE susceptibility loci. Some susceptibility genes have also been found by positional cloning and positional candidate cloning. In recent years, with the completion of the Human Genome Project and International HapMap Project and the advent of the efficient high throughput genotyping technology, genome-wide association study (GWAS) has become the effective method to search the susceptibility genes predisposing to common complex diseases. CLEC16A were recently reported to be associated with type I diabetes, rheumatoid arthritis, multiple sclerosis, Crohn's disease and some other autoimmune diseases. Also, it's been reported that autoimmune diseases may share some common genetic factors or signal pathway. CLEC16A may be susceptibility gene shared among autoimmune diseases.Objective To study the relationship between the polymorphism of CLEC16A gene and susceptibility of SLE in Chinese Han population.Methods We analyzed genotype data on SNPs spanning from 50 kb upstream and downstream of CLEC16A in our previous published genome-wide association study of SLE. SNP rs12599402 showing the strongest association with SLE was replicated in an independent cohort of 1,643 cases and 5,930 controls by using the Sequenom MassARRAY system, and then data were analyzed by Plink 1.06 software for statistical calculation.Results There was significant difference between SLE patients and normal control individuals in allele frequency of SNP rs12599402 of CLEC16A (Pcombined = 1.34×10-8, OR = 0.81, 95% CI: 0.75～0.87).Conclusions The result indicates that the polymorphism of CLEC16A is related to susceptibility of SLE in Chinese Han population.