The First Affiliated Hospital of Chongqing Medical University, Chongqing Key Laboratory of Ophthalmology and Chongqing Eye Institute, Chongqing, P. R. China.
The second hospital of Lanzhou University, Lanzhou, Gansu, P. R. China.
Sci Rep. 2017 Jul 13;7(1):5348. doi: 10.1038/s41598-017-05877-x.
C-type lectin receptors (CLRs) have been demonstrated to be involved in several autoimmune diseases. The role of CLRs in Behcet's disease (BD) is unknown and thus was the purpose of this study. A two-stage association study was carried out and a total of 766 BD patients and 1674 healthy controls were recruited. Genotyping of 14 SNPs of 13 genes in CLRs was carried out by iPLEX Gold genotyping or polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay. The expression of mannose binding lectin 2 (MBL2) and killer cell lectin like receptor C4 (KLRC4) was measured by Real-time PCR. Significantly increased frequencies of the A allele as well as AA genotype of rs1800450 in MBL2 (Pc = 2.50 × 10, OR = 1.494; Pc = 2.24 × 10,OR = 2.899; respectively) and TT genotype of rs2617170 in KLRC4 (Pc = 2.53 × 10, OR = 1.695) and decreased frequencies of GG genotype of rs1800450 (Pc = 1.56 × 10-3, OR = 0.689) and C allele as well as CC genotype of rs2617170 (Pc = 2.05 × 10-9,OR = 0.664; Pc = 1.20 × 10-5, OR = 0.585; respectively) were observed in BD. Two variants, p.Gly54Asp (rs1800450) and p.Asn104Ser (rs2617170) affect MBL2 and KLRC4 protein stability and expression. Our study demonstrates that the MBL2/rs1800450 and KLRC4/rs2617170 are susceptibility factors for BD in a Chinese Han population.
C 型凝集素受体 (CLRs) 已被证明参与多种自身免疫性疾病。CLRs 在白塞病 (BD) 中的作用尚不清楚，因此本研究旨在探讨这一问题。本研究采用两阶段关联研究，共纳入 766 例 BD 患者和 1674 例健康对照者。采用 iPLEX Gold 基因分型或聚合酶链反应-限制性片段长度多态性 (PCR-RFLP) 分析方法对 13 个 CLR 基因的 14 个 SNP 进行基因分型。采用 Real-time PCR 检测甘露糖结合凝集素 2 (MBL2) 和杀伤细胞凝集素样受体 C4 (KLRC4) 的表达。MBL2 基因 rs1800450 的 A 等位基因和 AA 基因型的频率显著升高（Pc=2.50×10，OR=1.494；Pc=2.24×10，OR=2.899），KLRC4 基因 rs2617170 的 TT 基因型的频率也显著升高（Pc=2.53×10，OR=1.695），而 rs1800450 的 GG 基因型和 C 等位基因及 CC 基因型的频率显著降低（Pc=1.56×10-3，OR=0.689；Pc=2.05×10-9，OR=0.664；Pc=1.20×10-5，OR=0.585）。这两个变体，p.Gly54Asp（rs1800450）和 p.Asn104Ser（rs2617170）影响 MBL2 和 KLRC4 蛋白的稳定性和表达。本研究表明，MBL2/rs1800450 和 KLRC4/rs2617170 是汉族人群中 BD 的易感因素。
