中国维吾尔族人群SLITRK1基因多态性与精神分裂症关联性研究

Association study of SLITRK1 gene polymorphism with schizophrenia in Uygur Chinese population

目的:探讨SLITRK1基因多态性与中国维吾尔族人群精神分裂症的关联性。方法:利用多重PCR靶向捕获二代测序技术对1 008例维吾尔族精神分裂症患者(病例组)及1 095例维吾尔族健康对照(对照组)进行SLITRK1基因外显子区域DNA扩增,高通量测序,采用阳性与阴性症状量表(PANSS)对纳入研究患者进行临床精神病性症状的评定。结果:病例组与对照组间SLITRK1基因rs145628951位点等位基因和基因型频率分布差异无统计学意义(P均>0.05);青少年发病病例组与对照组、成年发病病例组与对照组间rs145628951位点等位基因和基因型频率分布差异均无统计学意义(P均>0.05);男性病例组与对照组、女性病例组与对照组间rs145628951位点等位基因和基因型频率分布差异均无统计学意义(P>0.05);病例组中rs145628951位点A/A、A/C、C/C基因型3组间PANSS评分差异无统计学意义(P>0.05)。结论:SLITRK1基因rs145628951位点多态性与中国维吾尔族人群精神分裂症的发病无关联性。

Objective:To explore the association between SLITRK 1 gene polymorphism and schizophrenia in the Uygur Chinese population.Method:SLITRK 1 gene exon region DNA amplification was performed with multiple PCR targeted capture next-generation sequencing method in 1008 patients with schizophrenia and 1095 healthy controls of Uyghur descent,and high-throughput sequencing was performed,the clinical psychiatric symptoms of schizophrenia were assessed by positive and negative syndrome scale(positive and negative symptoms scale,PANSS).Results:There was no significant difference in the frequency distribution of alleles and genotypes at the rs145628951 of SLITRK1 gene between the case group and the control group(all P>0.05);And genotypic or allelic of rs145628951 association with schizophrenia were not found between adolescent cases and controls or adult cases and controls(all P>0.05);There was no significant difference in the distribution of allele and genotype frequencies of rs145628951 between male cases and controls,female cases and controls(P>0.05);Furthermore,in the case group,there was no statistically significant difference in the scores of PANSS among the three genotypes of A/A,A/C,C/C in rs145628951(P>0.05).Conclusion:There was no association between rs145628951 polymorphism of SLITRK 1 gene and schizophrenia in Uygur Chinese.