Department of Molecular Life Science, Tokai University School of Medicine, Isehara, Kanagawa 259-1143, Japan.
Biochem Biophys Res Commun. 2010 Oct 29;401(4):533-7. doi: 10.1016/j.bbrc.2010.09.088. Epub 2010 Sep 27.
Behcet's disease (BD) is a chronic inflammatory autoimmune disease and strongly associated with human leukocyte antigen (HLA)-B∗51 and -A∗26. We examined whether other genetic factors may exist in HLA region by 135 single nucleotide polymorphisms (SNPs) in 384 pairs of Japanese BD patients and controls. Multiple logistic regression analysis identified two novel susceptibility SNPs: rs9261365 near a ring finger protein (RNF) 39 and rs2074474 on exon 9 of tripartite motif-containing (TRIM) 39 independently of HLA-B∗51 and -A∗26 alleles. Our findings suggest that RNF39 and TRIM39 are involved in the etiology of BD.
白塞病（BD）是一种慢性炎症性自身免疫性疾病，与人类白细胞抗原（HLA）-B∗51 和 -A∗26 强烈相关。我们通过对 384 对日本 BD 患者和对照者的 135 个单核苷酸多态性（SNP）检测，研究 HLA 区域是否存在其他遗传因素。多变量逻辑回归分析确定了两个新的易感 SNP：位于环指蛋白（RNF）39 附近的 rs9261365 和三肽基含（TRIM）39 外显子 9 上的 rs2074474，独立于 HLA-B∗51 和 -A∗26 等位基因。我们的研究结果表明，RNF39 和 TRIM39 参与了 BD 的发病机制。
