肿瘤坏死因子基因与精神分裂症的传递不平衡研究

目的 探讨肿瘤坏死因子-α(TNF-α)基因和肿瘤坏死因子-β(TNF-β)基因与精神分裂症的关系.方法 收集172个广东潮汕地区的精神分裂症核心家系,将172例精神分裂症患者分为偏执型(96例)和非偏执型(76例),用聚合酶链反应-限制性片段长度多态性方法 ,检测所有研究对象的TNF-α的3个多态性位点(-C863A、-G308A、-G238A)和TNF-β+A252G位点的等位基因频率和基因型频率,并进行传递不平衡检验(TDT).结果 (1)单位点TDT检验,TNF-β+A252G位点杂合子父母过多地传递等位基因G给患者(X2=5.49,Pc＜0.05),而TNF-α的3个多态性位点(-C863A、-G308A、-G238A)均未发现传递不平衡.(2)多位点联合进行单体型分析,未显示在精神分裂症核心家系中存在传递不平衡;但在96个偏执型精神分裂症核心家系中,有一种常见单体型[(-863C,-308G,-238G,+252G);X2=7.20,Pc＜0.05]存在偏向传递.结论 在广东潮汕人群中,TNF-α和TNF-β基因与精神分裂症可能存在某些关联,该基因可能是偏执型精神分裂症的易感基因.

A transmission disequilibrium study of the tumor necrosis factor genes in schizophrenia

Objective To investigate the association between the tumor necrosis factor-α(TNF-α)and-β(TNF-β)gene with schizophrenia.Methods The genotypes and allelic frequencies of the three polymorphism loci of TNF-α gene(-C863A,-G308A, -G238A)and the TNF-β+A252G locus were examined in 172 schizophrenic trios(96 with paranoid and 76 with non-paranoid type)collecred from Chaoshan region,using the transmission/disequilibrium test(TDT).Results (1)The one-marker TDT results showed that the aHele G(X2=5.49,Pc<0.05)of the TNF-β+A252G was over-transferred in the heterozygous parents to patients,whereas the three polymorphism loci in TNF-α gene did not show biased transmission.(2)The multi-marker haplotypes analysis results showed that there were no haplotypes existed transmission disequilibrium in schizophrenic trios.In 96 schizophrenic trios with paranoid type,multi-maker haplotypes analysis showed that there were main haplotypes of[(-863C,-308G,-238G and+252G);X2=7.20,Pc<0.05]which over-transferred.Conclusion The TNF-α gene and the TNF-β gene may be associated with schizophrenia in the Chaoshan population,which may confer susceptibility to schizophrenia paranoid type.