精神分裂症患者甘露糖结合凝集素基因启动子区多态性及血清浓度的研究

Study on the Polymorphism of Mannose Binding Lectin Gene Promoter Region and Serum Concentration in Schizophrenia

目的:探讨精神分裂症患者甘露糖结合凝集素(MBL)的血清浓度和启动子区基因多态性的相关性及在患者免疫病理机制中的作用。方法:选取2018年6月至2018年12月在我院就诊的精神分裂患者为54例为观察组,另选取同时期本院健康体检中心志愿者56例为正常对照组,采用合酶链反应-序列特异性引物(PCR-SSP)技术分析MBL基因启动子区H/L(-550bp G/C)和X/Y(-221bp C/G)的多态性,酶联免疫吸附法(ELISA)检测血清MBL的浓度。结果:观察组血清MBL浓度(1367.218±1277.429)ng/mL低于正常对照组(1987.781±976.748)ng/mL,差异有统计学意义(P<0.05)。观察组HY/HY基因型频率低于对照组(P<0.05),HY/LY型频率高于对照组(P<0.05)。观察组HY/HY基因型血清MBL浓度明显高于HY/LX、LY/LX型(P<0.05);观察组MBL基因启动子区突变型纯合子的血清MBL水平均与对照组差异无统计学意义(P>0.05),而MBL基因型杂合子的MBL水平则差异有统计学意义(P<0.05)。结论:精神分裂症患者MBL水平低下与患者MBL基因启动子区各基因型的综合调控有关。MBL浓度低下是精神分裂症患者循环免疫复合物(CIC)滞留或清除障碍的分子机制之一。

Objective: To explore the relationship between serum concentration of mannose binding lectin(MBL) and gene polymorphism of promoter region in schizophrenia and its role in immunopathology. Methods: From June 2018 to December 2018, 54 schizophrenics in our hospital were selected as the observation group, and 56 volunteers in our health examination center at the same period were selected as the normal control group. The polymorphism of H/L(-550 bp G/C) and X/Y(-221 bp C/G) promoter regions of MBL gene was analyzed by PCR-SSP, and the concentration of MBL in serum was detected by ELISA. Results: The serum MBL concentration in the observation group(1367.218±1277.429) ng/ml was lower than that in the normal control group(1987.781±976.748) ng/mL, the difference was statistically significant(P<0.05). The frequency of HY/HY genotype in the observation group was lower than the control group(P<0.05), and the frequency of HY/LY genotype was higher than the control group(P<0.05). The serum MBL concentration of HY/HY genotype in the observation group was significantly higher than HY/LX,LY/LX genotype(P<0.05). The serum MBL level of homozygous mutant in the promoter region of MBL gene in the observation group was no significant difference from that in the control group(P>0.05), but the difference of MBL level of MBL genotype heterozygotes was statistically significant(P<0.05). Conclusion: The low level of MBL in schizophrenics is related to the comprehensive regulation of each genotype in the promoter region of MBL gene.The low concentration of MBL is one of the molecular mechanisms for the retention or removal of CIC in schizophrenia.