Polymorphisms in genetics of Vitamin D metabolism confer susceptibility to ocular Behçet disease in a Chinese Han population – Accepted Manuscript

Abstract: Purpose: To test whether singlenucleotidepolymorphisms(SNPs) of the four Vitamin D family genes(DHCR7, CYP2R1, CYP27B1 and CYP24A1) previously associated with several autoimmune diseases, are associated with ocular Behçet disease, Vogt-Koyanagi-Harada (VKH) syndrome, acute anterior uveitis with ankylosing spondylitis (AAU+ankylosing spondylitis+) or pediatric uveitis in the Chinese Han population.Design: Prospective case control studyMethods: Genotyping was performed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP)and the genotypes were verified with direct sequencing. The first stage study comprised 400 ocular Behçet disease patients, 400 VKH syndrome patients, 218 AAU+ankylosing spondylitis+ patients, 400 pediatric uveitis patients and 600 healthy subjects from Chinese Han populations. (Read more...)

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