雌激素β受体基因与围绝经期抑郁障碍的关联分析

Analysis of the association between estrogen receptor β gene and depressive disorder of perimenopausal patients

目的探讨雌激素β受体(ERβ)基因多态与围绝经期抑郁症疾病表型的质量性状和数量性状的关联。方法收集65例围绝经期抑郁障碍患者及121例健康对照者的临床资料;抽取外周静脉血,提取DNA,采用SNaP shot基因分型技术对ERβ基因的3个标签单核苷酸序列多态性(rs1256049、rs1271572和rs4986938)进行检测;应用贝克抑郁量表(BDI)评定患者抑郁表型的数量性状。运用SNPStats软件分析ERβ基因与围绝经期抑郁症疾病表型的质量性状和数量性状的关联。结果病例组与对照组间ERβ基因的3个标签SNP的基因型、等位基因的频率分布比较,差异无统计学意义(P>0.05);rs4986938位点携带GA基因型的患者BDI得分明显低于携带其他两种基因型者,差异有统计学意义(P<0.05);rs1256049位点携带AA基因型的患者BDI评分高于携带其他两种基因型者,但差异无统计学意义(P>0.05)。结论 ERβ基因可能与围绝经期抑郁症的质量性状无关,而与抑郁症状的数量性状有关:rs4986938位点GA基因型可能有减轻抑郁程度的保护作用,rs1256049位点A等位基因可能有较弱的增加抑郁严重程度的风险。

Objective To investigate the correlation between gene polymorphism of estrogen receptor β （ERβ） and qualitative and quantitative traits of disease phenotypes of depressive disorder of perimenopausal patients. Methods Clinical data of 65 perimenopausal patients with depressive disorder and 121 healthy controls were collected. Peripheral blood samples were drawn and their DNAs were collected. Three tag single nudeotide polymorphisms （SNPs） （rs1256049, rs1271572, and rs4986938） of ERβ gene were detected by snapshot genotyping assay. The Beck Depression Inventory （BDI） was used to assess the quantitative traits of disease phenotypes of perimenopausal patients with depressive disorder. SNPStats software was used to analyze the correlation between EBB gene and qualitative and quantitative traits. Results The differences of genotypes and allele distribution of three tag SNPs of EBB gene between two groups were not statistically significant （P〉0.05）. The BDI scores of patients with GA genotype in locus rs4986938 were significantly lower than those of patients with other two genotypes and the differences were statistically significant （P〈0.05）. The BDI scores of patients with AA genotype in locus rs1256049 were higher than those of patients with other two genotypes and the differences were not statistically significant （P 〉 0.05）. Conclusion EBB gene may not correlate with qualitative traits of depressive disorder of perimenopausal patients, but may correlate with quantitative traits. The GA genotype in locus rs4986938 may have a protective effect that can alleviate depressive symptoms, while the A allele in locus rs1256049 may aggravate depressive symptoms.