精神分裂症與介白素-10啟動子區域單倍體之相關性研究

目的：本研究旨在探討介白素-10(Interleukin-10；IL-10)啟動子(promoter)區域上三個單一核苷酸多型性﹙Single Nucleotide Polymorphism；SNP﹚(-1082*G/A、-819*T/C、-592*C/A)的對偶基因頻率分布以及其所組成的單倍體（haplotype）在精神分裂症(schizophrenia)患者和一般社會大眾的差異。方法：採用病歷對照研究設計法以台灣南部某社區為研究族群進行隨機抽樣共411位為控制組；個案組則是南台灣某區域教學醫院看診病人共337位診斷為精神分裂症者。所有個案均需填妥基本資料問卷並簽妥同意提供血液檢體同意書。結果：在利用X2 檢定可得知兩組在介白素-10(IL-10)啟動子(promoter)區域上在-1082*G/A位置上的基因頻率(gene frequency)分析以及對偶基因的頻率分析均具統計上顯著性差異(X2 =4.959、p=0.026；X2 =7.691、p=0.021)；在-819*T/C位置上的基因頻率分析具統計上顯著性差異(X2 =0.830、p=0.046)。進一步利用unphased以及PHASE統計軟體做兩組間單倍體(haplotype)的分析，均可得知ACA型和個案組具統計上顯著性差異(p=0.000；p=0.002)。結論：精神分裂症患者和介白素-10(IL-10)啟動子(promoter)區域上三個單一核苷酸多型性﹙Single Nucleotide Polymorphism；SNP﹚(-1082*G/A、-819*T/C、-592*C/A)所組成的單倍體（haplotype）ACA型具顯著性的相關。多型性變化是影響Th1/Th2分泌不平衡的因素之一，而這影響可能和精神分裂症的病因有相關。

關鍵字

精神分裂症；介白素-10 ；單一核苷酸多型性；單倍體

並列摘要

Objective：The aim of this study was to find association of gene frequency, allele frequency and haplotype of three single nucleotide polymorphism (-1082*G/A、-819*T/C、-592*C/A) on interleukin-10 gene promoter region between schizophrenia and general population. Methods：This study was case-control designed. The subjects were random sampling from a community in southern Taiwan. The cases were diagnosed schizophrenia by DSM-IV at a teaching hospital in southern Taiwan. Results：Both allele frequency and genotype frequency were significant on -1082*G/A of interleukin-10 gene promoter region between schizophrenia and general population(X2 =4.959、p=0.026；X2 =7.691、p=0.021). However, on -819*T/C of interleukin-10 gene promoter region, there was allele frequency significant(X2 =0.830、p=0.046). Furthermore, we used genetic software—UNPHASED and PHASE—to analyze haplotype frequency. The result showed that haplotype ACA was related to schizophrenia(p=0.000；p=0.002). Conclusion：Haplotype ACA on interleukin-10 gene promoter region was related to schizophrenia. The polymorphism could affect imbalanced secretion of Th1/Th2. This suggested that the effect might have relations with the etiology of schizophrenia.