目的:研究中国湖南汉族群体中神经肽Y基因启动子区-485C ＞T多态性与精神分裂症的相关性. 方法:应用聚合酶链式反应-限制性片段长度多态性(PCR-RFLP)技术检测150例精神分裂症患者、99例精神分裂症患者一级亲属以及113例正常对照神经肽Y(-485C ＞T)基因多态性,并分析基因型分布和等位基因频率. 结果:精神分裂症组神经肽Y(-485C＞T)基因型T/T、C/T、C/C分别为12.7％、47.3％和40.0％；一级亲属组分别为15.2％、45.4％和39.4％；正常对照组分别为11.5％、53.1％和35.4％；3组间基因型分布差异无统计学意义(x2=1.672,P=0.796).精神分裂症组、一级亲属组、正常对照组T等位基因频率分别为36.3％、37.9％和38.1％,之间的差异亦无统计学意义(x2=0.203,P=0.903).男性中3组间基因型分布和等位基因频率差异无统计学意义(分别为x2=1.777,P=0.777；x2=1.076,P=0.584)；同样,在女性中差异也无统计学意义(分别为x2=1.504,P=0.826;x2=0.825,P=0.662). 结论:中国湖南汉族人群神经肽Y(-485C＞T)多态性可能与精神分裂症不存在相关性.%Objective; To investigate the association between the 485C >T polymorphism of the neuropeptide Y gene and schizophrenia in Chinese Hans. Method:The study included 150 patients with first-episode schizophrenia,99 first-degree relatives of schizophrenia,and 113 normal controls. The polymorphism was detected by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). The genotype distributions and allele frequencies of the neuropeptide Y (NPY) -485C >T were analysized. Results:The genotype counts of T/T,C/T,C/C in schizophrenia were 12. 7% ,47. 3% and 40. 0% ,respectively;the counts in first-degree relatives group were 15.2% ,45.4% ,39.4%,respectively; and 11.5% ,3.1% ,35.4% ,respectively in control group. The -485T allele frequencies were 36.3% ,37.9% ,38.1% for schizophrenia,first-degree relatives group and control group, respectively. There were no significant differences in the distributions of genotype (χ2 =1.672,P = 0.796) or allele frequencies (χ2 =0.203,P =0. 903) among three groups. Additionally, a sex-specific association with this polymorphism was not observed in this study. There were no significant sex-associated differences in the distributions of genotype ( male; χ2 = 1 . 777 ,P= 0. 777 ; female; χ2 = 1.504,P=0.826) or allele frequencies (male:χ2 =1.076,P =0.584; female:χ2 =0.825,P = 0.662) a-mong three groups. Conclusion: schizophrenia may not be associated with the - 485C >T polymorphism of the neuropeptide Y gene in Chinese Hans.
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