去甲肾上腺素转运体基因T-182C和G1287A多态性与精神分裂症的关联研究

Association study between T-182C and G1287A polymorphisms in norepinephrine transporter gene and schizophrenia

目的探讨去甲肾上腺素转运体（norepinephrine transporter，NET）基因T-182C和G1287A的多态性是否与中国汉族人群精神分裂症患者的病因相关。方法收集249例汉族精神分裂症患者（病例组）和309名汉族健康体检者（对照组），采用连接酶检测反应技术（ligase detection reaction，LDR）检测NET基因rs2242446、rs5569位点的基因型和等位基因频率，同时比较其在病例组与对照组之间的分布差异。结果NET基因rs2242446位点在病例组中，TT基因型最多，为48．6％，CC基因型最少，为8．4％，在对照组中CT基因型最多，为47．9％，CC基因型最少，为11．3％，最小等位基因频率为29．9％；rs5569位点在病例组中GG基因型最多，为46．2％，CC基因型最少，为9．6％；在对照组中GG基因型最多，为51．5％，AA基因型最少，为10．3％，最小等位基因频率为29．4％。这两个位点的基因型和等位基因频率在病例组和对照组中的分布差异均无统计学意义（均P〉0．05）；rs2242446和rs5569的基因型和等位基因频率在同性别的病例组和对照组的分布差异均无统计学意义（均JP〉0．05）。结论NET基因rs2242446和rs5569位点可能不是中国汉族精神分裂症患者的易感基因。

Objective To explore whether the norepinephrine transporter（NET） gene T-182C and G1287A polymorphisms are involved in the etiology of schizophrenics among the Chinese Han population. Methods 249 schizophrenics （case group） and 309 healthy physical examiners （control group） of the Chinese Han population were collected. Ligase detection reaction was used to detect the genotype distributions and allele frequencies of NET rs2242446 and rs5569 polymorphisms in the two groups.The genotype distributions and allele frequencies of these two single nucleotide polymorphisms（SNPs） were also compared in the case and control groups.Results In the case group, the Tr genotype of the NET gene loci rs2242446 was the most,48.6% ,and the CC genotype of which was the least,8.4%.In the control group,the CT genotype was the most,47.9%, and the CC genotype was the least, 11.3% ,the minimum allele frequency was 29.9%.In the case group, the GG genotype of the NET gene loci rs5569 was the most,46.2%, and the CC genotype was the least,9.6%.In the control group, GG genotype was the most,51.5%, and the AA genotype was the least, 10.3% ,and the minimum allele frequency was 29.4%. No significant differences in the genotype and allele distribution of NET rs2242446 and rs5569 were found in Chinese-Han patients with schizophrenia and control participants （all P〉 0.05 ）. In gender-specific analyses, similarly, no significant differences were found for rs2242446 and rs5569 genotype and allele distributions in either the male or the female case-control comparisons（ all P〉 0.05 ）. Conclusion The NET rs2242446 and rs5569 polymorphisms are not associated with schizophrenia in Chinese Han population.