ESR1基因单核苷酸多态性及单倍型与精神分裂症的关联研究

Association between ESRI gene polymorphisms and hapiotypes with schizophrenia

目的探索雌激素受体1（estrogenreceptor1，ESRl）基因rs2234693、rs9340799和rs3798759位点单核苷酸多态性（singlenucleotidepolymorphisms，SNPs）及其单倍型与精神分裂症（schizophrenia，SZ）发病之间的相关性。方法应用聚合酶链反应一限制性片段长度多态性技术对333例sZ患者和315名正常对照rs2234693、rs9340799和rs3798759位点进行基因分型，应用X2检验对SZ组和对照组等位基因、基因型和单倍型频率进行分析。结果rs2234693、rs9340799位点两组间基因型频率及等位基因分布差异均无统计学意义（P〉0．05）。SZ组rs3798759位点GG基因型频率及G等位基因频率均高于健康对照组（P〈0．01）。性别分层分析提示，女性SZ患者rs3798759位点TG、GG基因型频率及G等位基因频率均高于健康女性（P〈0．05）。单倍型C-AG和C-G-G在SZ组的分布频率高于对照组（P〈0．05）。结论rs3798759位点突变可能为女性精神分裂症发生的风险因子，C-A-G和C-pG单倍型可能为精神分裂症的遗传风险单倍型。

Objective To assess the association between single nucleotide polymorphisms （SNPs） and haplotypes of estrogen receptor 1 （ESR1）gene with schizophrenia. Methods Three SNPs （rs2234693, rs9340799 and rs3798759） were determined in 333 schizophrenic patients and 315 healthy subjects with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） method. Allelic and genotypic frequencies and particular haplotypes were compared between the two groups using Chi-square test. Results The allelic and genotypic frequencies of rs2234693 and rs9340799 showed no significant difference between the two groups （P〉0. 05）. However, a significant difference was detected in the frequencies of rs3798759 G allele and GG genotype between the two groups （P〈0. 01）. Single factor analysis stratified by sex also found that frequencies of rs3798759 GG and TG genotypes and G allele were significantly higher in female schizophrenia patients compared with healthy females （P〈0.05）. Haplotypes C-A-G and C-G-G were more common in schizophrenia group （P 〈 0. 05 ）. Conclusion rs3798759 polymorphisms may be a risk factor for female patients with schizophrenia, and haplotypes C-A-G and C-G- G may be risk factors for schizoohrenia.