目的·探讨中国汉族人群谷氨酸脱羧酶1（glutamate decarboxylase 1，GAD1）基因和γ-氨基丁酸A受体β亚基 [γ-aminobutyric acid （GABA）A receptor β-3，GABRB3] 基因启动子区单核苷酸多态性（single nucleotide polymorphism，SNP）与精神分裂症（schizophrenia，SZ）的相关性。方法·采用SNaPshot基因分型技术对545例SZ患者（病例组）及624例正常个体（对照组）的GAD1基因rs3791878和rs3749034位点、GABRB3基因rs4906902位点进行分型，结合SNPstats 在线软件比较总体样本和性别分层后样本的病例组与对照组之间等位基因、不同遗传模式下基因型分布的差异。应用生存分析研究rs3791878位点风险基因型G/T与男性SZ患者发病年龄的相关性。结果·在超显性遗传模式下，在男性病例组与对照组之间rs3791878位点G/T基因型分布差异有统计学意义（P0.000），且P值经Bonferroni 校正后，差异仍有统计学意义（P0.000）；而在总体样本的病例组与对照组之间rs3749034和rs4906902位点的等位基因及不同遗传模式下基因型分布差异均无统计学意义（P>0.05），在性别分层后的病例组与对照组之间等位基因分布差异也无统计学意义（P>0.05）。Kaplan-Meier分析显示，男性SZ患者在rs3791878位点携带风险基因型G/T与不携带风险基因型G/T在发病年龄上差异无统计学意义（P0.603）。结论·GAD1基因启动子区rs3791878位点与中国汉族男性SZ患者的发病显著相关。

Objective · To investigate the correlation between the polymorphisms of locus in the promoter region of glutamate decarboxylase 1 (GAD1) gene and γ-aminobutyric acid (GABA)A receptor β-3 gene (GABRB3) and schizophrenia (SZ) in Chinese Han population. Methods · SNaPshot genotyping technique was used to detect the polymorphisms of rs3791878 and rs3749034 in the promoter region of GAD1 and rs4906902 in the promoter region of GABRB3 in 545 SZ patients (case group) and 624 healthy controls (control group). The distribution of alleles and genotypes under different genetic models between the case group and the control group in all samples were comparedSNPstats online software. The above analysis was also performed after the subjects were stratified according to gender. The correlation of G/T risk genotype of rs3791878 with the age of the first onset of male SZ was investigatedsurvival analysis. Results · Under over-dominant genetic model, the distribution of G/T risk genotype of rs3791878 showed statistically difference between the male SZ cases and male controls (P0.000), and the difference was still statistically significant after Bonferroni correction (P0.000). However, there was no significant difference in the distribution of alleles and genotypes under different genetic models of rs3749034 and rs4906902 between the case group and the control group in all samples (P>0.05), and there was also no significant difference in the distribution of alleles between the case group and the control group after them being stratified according to gender (P>0.05). Kaplan-Meier analysis showed that there was no significant difference between the age of onset of male SZ who carried G/T genotype in rs3791878 locus and that of male SZ who did not carry it (P0.603). Conclusion · The polymorphism of rs3791878 in the promoter region of GAD1 is significantly associated with the incidence of male SZ in Chinese Han population.