Genetic Variations of NLR family genes in Behcet's Disease.

ABSTRACT: This study aimed to investigate whether single nucleotide polymorphisms (SNPs) of five NLR family genes (NOD1, NOD2, NLRP1, NLRP3 and CIITA) are associated with Behcet's disease (BD) in a Chinese Han population. The study was carried out in 950?BD patients and 1440 controls for 19?SNPs in the selected NLR genes. In the first-stage study, significantly decreased frequencies of the CIITA//rs12932187 C allele (Pc?=?1.668E-02) and NOD1//rs2075818 G allele (Pc?=?4.694E-02) were found in BD patients as compared to controls . After performing a second stage validation study and combination of data we confirmed the association of CIITA//rs12932187 and NOD1//rs2075818 with BD. In CIITA//rs12932187, the frequencies of the CC genotype and C allele were significantly lower in BD than in controls (Pc?=?3.331E-06; Pc?=?6.004E-07, respectively). In NOD1//rs2075818, the GG genotype and G allele showed significantly decreased frequencies in BD patients when compared to controls (Pc?=?1.022E-02; Pc?=?6.811E-05, respectively). Functional experiments showed that carriers with the CC genotype in CIITA//rs12932187 had a lower CIITA mRNA expression level and an enhanced IL-10 secretion as compared to GG and CG carriers. This study provides evidence that the CIITA and NOD1 gene are involved in the susceptibility to Behcet's disease.

SUBMITTER: Li L 

PROVIDER: S-EPMC4735577 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature