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DRD2的基因多态性与中国北方汉族人群精神分裂症的关联研究

Genetic polymorphisms of DRD2 in Han populations in northern China an association study of schizophrenia
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摘要 目的 探讨DRD2基因多态性和中国北方汉族人群精神分裂症易感性的相关性。方法 选取2018年1月至2022年3月在牡丹江精神病院住院的256例中国汉族人群精神分裂症患者作为病例组,分批次选取同一时期在牡丹江市林业医院健康体检者作为健康对照组,从研究的所有参与者收集静脉血样本,使用试剂盒法提取白细胞中的DNA,使用多重SNP分型技术进行DRD2基因rs4936270、rs4648317、rs7131056、rs6275多态性检测。应用Hardy-Weinberg软件来检验是否达到遗传平衡,使用Haploview软件进行连锁不平衡、单倍型分析,将研究的参与者以及按照性别、年龄分组后比较等位基因、基因型频率分布差异。结果 患者和对照组之间按性别、年龄分组rs4648317的基因型频率在男性和女性之间分布存在差异(P<0.05),AA基因型的男性相对于GG/GA基因型的男性患有精神分裂症的风险显著增大。结论 rs4648317在经过性别和年龄分层后基因型频率存在显著差异,因此rs4648317位点与研究样本男性精神分裂症易感性显著相关。 Objective To investigate the association between DRD2 gene polymorphisms and susceptibility to schizophrenia in Han population of northern China.Methods A total of 256 Chinese Han patients with schizophrenia who were hospitalized in Mudanjiang Psychiatric Hospital from January 2018 to March 2022 were selected as the case group,and healthy people who underwent physical examination in Mudanjiang Forestry Hospital during the same period were selected as the healthy control group.Venous blood samples were collected from all participants in the study,and DNA was extracted from white blood cells using the kit method.The rs4936270,rs4648317,rs7131056 and rs6275 polymorphisms of DRD2 gene were detected by multiple SNP typing.Hardy-Weinberg software was used to test whether genetic balance was reached.Haploview software was used to analyze linkage disequilibrium and haplotype.Results There were significant differences in the genotype frequencies of rs4648317 between male and female patients and controls by gender and age(P<0.05).Men with AA genotype had a significantly higher risk of schizophrenia than those with GG/GA genotype.Conclusion rs4648317 was significantly associated with the susceptibility to schizophrenia in males.
作者 崔鸣 候惠娴 郭艳宏 王春涛 韩彦龙 CUI Ming;HOU Huixian;GUO Yanhong;WANG Chuntao;HAN Yanlong(Department of Biology,Mudanjiang Medical University,Mudanjiang,Heilongjiang 157011,China;Hongqi Hospital Affiliated to Mudanjiang Medical University,Mudanjiang,Heilongjiang 157011,China)
出处 《中国优生与遗传杂志》 2023年第5期891-894,共4页 Chinese Journal of Birth Health & Heredity
基金 黑龙江省省属高等学校基本科研业务费科研项目(2021-KYYWF-0468)。
关键词 DRD2基因 单核苷酸多态 精神分裂症 关联研究 DRD2 gene single nucleotide polymorphism schizophrenia association studies
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