精神分裂症和心境障碍混合家系MLC1基因多态性的关联研究

Association study of MLC1 gene polymorphisms with schizophrenia and mood disorders in Chinese Han mixed pedigree

目的在中国汉族人群精神分裂症和心境障碍混合家系中探讨位于22q13的MLC1基因多态性(rs11568171、rs2076137及rs2235349)与精神分裂症、心境障碍的关系。方法在有精神分裂症和心境障碍混合遗传家族史的67个核心家系(包括44个完整的核心家系)中,采用聚合酶链式反应和限制性片断长度多态性(PCR-RFLP)方法,分析MLC1基因上述多态性的基因型及其单体型,进行传递不平衡检验(TDT)。结果患者组与父母组之间,MLC1基因rs11568171T/C、rs2076137T/C及rs2235349T/C多态性等位基因和基因型分布差异无统计学意义(P>0.05),且TDT结果示各多态性在精神分裂症或心境障碍组中父母与患者之间等位基因传递差异均无统计学意义(P>0.05)。单体型TDT显示,精神分裂症患者组中父母与患者之间单体型T-C-T明显传递过少(2=5.0,P<0.05),而单体型C-C-C明显传递过多(2=5.0,P<0.05)。结论在中国汉族人群中MLC1基因可能是精神分裂症的易感基因,但可能不是心境障碍的易感基因。

Objective To explore the relationships between MLC1 gene polymorphisms and schizophrenia/mood disorders in the mixed pedigrees of Chinese Han population. Methods Sixty-seven mixed pedigrees （ including in 44 family trios） with schizophrenia and mood disorder in Han Chinese population were applied to genotype single nucleotide polymorphisms（SNPs） of rs11568171 T/C,rs2076137 T/C and rs2235349 T/C of MLC1 gene with polymerase chain reaction and restriction fragment length polymorphism （PCR-RFLP）, and analyzed by transmission disequilibrium test （TDT）. Results There were no significant difference in alleles and genotypes distribution of rs11568171 T/C, rs2076137T/C and rs2235349 T/C of MLC1 gene respectively between patients and their parents（ P 〉 0. 05 ）. TDT results showed that there were no significant difference in alleles frequencies of all SNPs transmitted from their parents to patients in schizophrenia group or mood disorder group. TDT of haplotypes showed that haplotypes T-C-T transmitted less frequently than expected in schizophrenia（χ^2 =5.0, df = 1, P 〈0. 05）, while C-C-C transmitted more frequently than expected（χ^2 =5.0, df = 1 ,P 〈 0. 05 ） from their parents to patients. Conclusions The MLC1 gene or neighboring gene may be one of common susceptible genes of schizophrenia, but not the one of mood disorders in Chinese Han population.