胆囊收缩素a受体基因的多态性与偏执型精神分裂症的关系临床医学专业论文.docxVIP

中文摘要胆囊收缩素A受体基因的多态性 中文摘要 胆囊收缩素A受体基因的多态性 与偏执型精神分裂症的关系 精神分裂症是一种发病率高、病情严重、影响广泛的精神疾病。遗传因素在 其诸多致病因素中尤为重要。多巴胺功能亢进可导致精神分裂症易感性升高，而 胆囊收缩素A受体(CCK．AR)则可影响多巴胺能神经元的功能。近年针对 CCK．AR致病性的研究没有得到完全一致的结论。 本研究在509例偏执型精神分裂症患者及480例健康对照中，对CCK．AR 进行了全基因筛查，并对其中所含有的17个SNPs位点采用“病例．对照”关联分 析的方法进行了统计学分析。此外，还根据临床表型对病例组进一步分层，从而 增加统计效力。 结果显示：(a)位于第一内含子与第二外显子相邻区域的位点rsl800857，其 等位基因T可使疾病易感性升高；(b)位点rs6448456的G／G基因型与本病存在 关联；(C)按性别进行分层后，阳性结果显示出性别差异；(d)表型关联分析发 现，CCK．AR基因的变异更多与阴性症状相关联。 结论：第一，CCK．AR基因的变异可能影响精神分裂症的发生风险；第二， 不同性别中，此基因多态性对疾病的影响可能存在差异；第三，此基因可能主要 影响精神分裂症中阴性症状的出现。 关键词：精神分裂症、胆囊收缩素A受体、单核苷酸多态性、单倍型、关联分析 AB AB STRACT Association Study of Polymorphisms of Cholecystokinin A Receptor Gene in Paranoid Schizophrenia Background：Schizophrenia iS a common mental disorder．Evidence shows that hyper-active dopaminergic status may lead to an increased susceptibility to schizophrenia． As a modulator of dopamine activity,Cholecystokinin A receptor (ccK．AR)has recently been studied of its association with schizophrenia．However, up to date researchers have not got consistent conclusions． objectives：1 1 To examine the association between the single nucleotide polymorphisms(SNPs)of CCK．AR gene and schizophrenia in Northem Chinese populmion．21 To specify haplotypic combinations associated with schizophrenia．3) To explore SNP(s)susceptible to schizophrenia in patients with certain clinical symptoms evaluated with PANSS grading system． Results：1、The行equency of rsl 800857 T allele located at the border of l st intron and 2nd exon is significantly increased in patients．21 G／G genotype of rs6448456 is associated with schizophrenia．31 The association between SNP(s)and schizophrenia is affected by gender．4、More polymorphisms in CCK—AR gene are observed in patients with negative symptoms． Conclusion：the genetic variation of CCK．AR may influence the susceptibility of schizophrenia．Such genetic polymorphisms，which play diverged roles in different genders，may have greater impacts on negmwe symptoms· Key Words：Schizophrenia，Cholecyst