Association of Long Non-coding RNA C1RL-AS1 and PTPN6 Gene Polymorphisms with Ocular Behcet's Disease in Han Chinese.

ABSTRACT

PURPOSE: To explore the association of the polymorphisms in PTPN6 and LncRNA C1RL-AS1 genes with ocular BD in Han Chinese patients. METHODS: Correlation study was performed using the iPLEX system on a cohort of ocular BD patients andcontrols. The genotyping of 7 SNPs for LncRNA C1RL-AS1 and PTPN6 genes in ocular BD patients was performed using the iPLEX Gold genotype. RESULTS: The frequencies of rs4013722 AG genotype/A allele in LncRNA C1RL-AS1 were significantly decreased in BD patients, and the frequency of GG genotype was significantly increased in BD patients. The rs4013722 was associated with ocular BD in male patients, but not in female patients. The AG and GG genotype of rs4013722 were associated with skin lesions in male patients. The gene polymorphisms of PTPN6 were not associated with BD patients. CONCLUSIONS: The LncRNA C1RL-AS1/rs4013722 polymorphism conferred susceptibility to ocular BD in Han Chinese patients, which was influenced by sex.Abbreviations LncRNA Long Non-coding RNA; BD Behcet's disease; SNP single nucleotide polymorphism; PBMCs peripheral blood mononuclear cells; PTPs Protein tyrosine phosphatases; PTPN6 protein tyrosine phosphatase non-receptor 6; GWAS genome-wide association study; HWE Hardy-Weinberg equilibrium; LD linkage disequilibrium; OR odds ratio; CI confidence interval; eQTL expression quantitative trait loci; IBD inflammatory bowel disease; RA rheumatoid arthritis; Padj Bonferroni corrected P value; NS non-significant.