心肌病相关蛋白5基因rs10043986多态性与中国维吾尔族人群精神分裂症关联研究

Association analysis of the rs10043986 polymorphism of cardiomyopathy-associated 5 gene with schizophrenia in Uygur Chinese population

目的探讨心肌病相关蛋白5（cardiomyopathy—associated5，CMYA5）基因rsl0043986多态性与中国维吾尔族精神分裂症的关联性。方法应用Taqman探针分型技术对325例维吾尔族精神分裂症患者及183例维吾尔族正常对照组CMYA5基因rsl0043986位点进行基因分型，采用阳性与阴性症状量表（PANSS）评定纳入研究患者的病情严重程度，使用SPSS17．0及SHEsis软件分析rsl0043986基因多态性与精神分裂症的关联。结果病例组CMYA5基因rsl0043986位点的基因分布（c、T等位基因频率分别为91．5％、8．5％，CC、CT、TI＇基因型频率分别为83．4％、16．3％、0．3％）与对照组（C、T等位基因频率分别为96．4％、3．6％，CC、CT、TT基因型频率分别为92．9％、7．1％、0）比较，差异有统计学意义（x2=9．038，P=0．003；x2=9．417，P=0．009）；按性别和首次发病年龄分层比较发现，女性病例组和对照组间等位基因和基因型分布差异有统计学意义（x2=11．812，P=0．001；x2=12．769，P=0．001），男性病例组和对照组间等位基因和基因型分布差异无统计学意义（均P〉O．05）；成年病例组与对照等位基因和基因型分布差异有统计学意义（x2=8．219，P=0．004；F=8．379，P=0．015），青少年病例组与对照组间等位基因和基因型分布差异无统计学意义（均P〉0．05）；病例组C／C和C／T基因型两组间PANSS量表评分差异无统计学意义（均P〉0．05）。结论CMYA5基因rsl0043986位点T等位基因可能与中国维吾尔族女性和成年人群精神分裂症的易感性相关，其多态性与精神分裂症临床症状严重程度可能无关联性。

Objective To evaluate the relationship between cardiomyopathy-associated 5 （CMYA5） gene rs10043986 polymorphism and schizophrenia in Uygur Chinese population. Methods The SNP rs10043986 in CMYA5 gene was genotyped in 325 patients with schizophrenia and 183 normal controls using TaqMan technology. The symptoms of schizophrenia were assessed by positive and negative syndrome scale （PANSS）. The association of the loci with schizophrenia, age of onset, clinical symptom was analyzed. Results The allelic and genotypic distributions in rs10043986 between patients with schizophrenia （ C, T allele： 91.5%, 8.5% ; C/C, C/T, T/T genotypes ： 83.4%, 16.3% ,0.3% ） and normal controls （ C ,T allele ： 96.4% ,3.6% ; C/C, C/T,T/T genotypes ：92.9%, 7.1%,0） had statistically significance after analysis （ x2 = 9.038, P= 0.003 ; X2 = 9.417, P= 0.009）. Via analysis of stratification by gender and age at onset.The results showed that both allele （X2= 11.812, P= 0.001 ） and genotype （X2= 12.769, P= 0.001 ） frequency in rs10043986 with patients were significantly different in females, but neither in males （all P〉0.05）. Allelic or genotypic distributions between adult cases and controls had statistically significance （X2= 8.219, P= 0.004; X2= 8.379, P= 0.015） ,but there were not significant differences between ado- lescent cases and controls （all/9〉0.05）. Furthermore, we also notice that the PANSS scores of patients between Genotype C/C and C/T had no statistically significance （all P〉0.05）. Conclusion The results reveal that T allele at CMYA5 rs10043986 may be confer risk for susceptibility of female and adult schizophrenia in Uygur Chinese population, and that rs10043986 polymorphism may not significantly associate with symptoms severity of schizophrenia.