中国家系三联体中甲基化CpG结合域基因与精神分裂症的遗传关联研究。

Genetic association study between methyl-CpG-binding domain genes and schizophrenia among Chinese family trios.

作者信息

Xie Bing, Yu Yaqin, Meng Xiangfei, Yu Qiong, Shi Jieping, Sang Hong, Kou Changgui

机构信息

aResearch Center for Genomic Medicine bDepartment of Epidemiology and Biostatistics, School of Public Health, Jilin University cChangchun Mental Health Hospital, Changchun dCentral Laboratory, The First Hospital of Hebei Medical University, Shijiazhuang, China.

出版信息

Psychiatr Genet. 2014 Oct;24(5):221-4. doi: 10.1097/YPG.0000000000000042.

DOI:10.1097/YPG.0000000000000042

PMID:24849540

Abstract

This study investigates the genetic association between methyl-CpG-binding domain (MBD) gene polymorphisms and schizophrenia. A total of 200 family trios consisting of fathers, mothers, and affected offspring with schizophrenia were recruited as our participants. Four tag SNPs on MBD1 (rs125555, rs140689, rs140687, and rs140686), three tag SNPs on MBD2 (rs3876254, rs7614, and rs1145317), and three tag SNPs on MBD3 (rs7252741, rs4807934, and rs4807122) genes were tested using the PCR-based ligase detection reaction (PCR-LDR). The transmission disequilibrium test showed that rs1145317 on the MBD2 gene was significantly overtransmitted from parents to schizophrenic offspring (P=0.026). The haplotype-based haplotype relative risk test revealed that the haplotype rs7614-rs1145317 (A-G) was associated with schizophrenia (P=0.029). Our finding suggests that the MBD2 gene may be a susceptibility gene for schizophrenia.

摘要

本研究调查甲基化CpG结合域（MBD）基因多态性与精神分裂症之间的遗传关联。总共招募了由父亲、母亲和患精神分裂症的后代组成的200个三联体家庭作为研究对象。使用基于聚合酶链反应的连接酶检测反应（PCR-LDR）对MBD1基因上的4个标签单核苷酸多态性（rs125555、rs140689、rs140687和rs140686）、MBD2基因上的3个标签单核苷酸多态性（rs3876254、rs7614和rs1145317）以及MBD3基因上的3个标签单核苷酸多态性（rs7252741、rs4807934和rs4807122）进行检测。传递不平衡检验显示，MBD2基因上的rs1145317从父母向精神分裂症后代的传递显著过度（P=0.026）。基于单倍型的单倍型相对风险检验显示，单倍型rs7614-rs1145317（A-G）与精神分裂症相关（P=0.029）。我们的研究结果表明，MBD2基因可能是精神分裂症的一个易感基因。