上海交通大学学报（医学版）

›› 2012, Vol. 32 ›› Issue (6): 766-.doi: 10.3969/j.issn.1674-8115.2012.06.016

• 论著（临床研究） • 上一篇    下一篇

ESR1基因与5-HTT基因多态性的交互作用对女性围绝经期抑郁障碍的影响

陶 晶1, 仇剑崟1, 顾红亮2, 杨慧琳2, 陈 静1, 王祖承1   

  1. 上海交通大学 医学院附属精神卫生中心, 上海 200030； 2.上海浦东新区妇幼保健院, 上海 201206
  • 出版日期:2012-06-28 发布日期:2012-07-02
  • 通讯作者: 仇剑崟, 电子信箱: jianyin_qiu@yahoo.com.cn。
  • 作者简介:陶 晶（1985—）, 女, 住院医师, 硕士；电子信箱: taojing_0801@foxmail.com。
  • 基金资助:

    高等学校博士学科点专项科研基金(20050266006)

Impact of interaction between 5-HTT and ESR1 gene polymorphisms on depressive disorder in perimenopausal women

TAO Jing1, QIU Jian-yin1, GU Hong-liang2, YANG Hui-lin2, CHEN Jing1, WANG Zu-cheng1   

  1. 1.Shanghai Mental Health Center, Shanghai Jiaotong University School of Medicine, Shanghai 200030, China；2.Maternal and Child Health Hospital of Pudong New District, Shanghai 201206, China
  • Online:2012-06-28 Published:2012-07-02
  • Supported by:

    Research Fund for the Doctoral Program of Higher Education of China, 20050266006

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摘要：

目的 通过多因子降维法（MDR）模型探讨雌激素α受体（ESR1）基因与5-羟色胺转运体（5-HTT）基因多态位点的交互作用对围绝经期首发抑郁障碍的影响。方法 采用病例-对照研究，通过对在妇科门诊就诊的围绝经期汉族女性人群进行抑郁障碍筛查及诊断，最终共纳入围绝经期抑郁障碍患者63例（病例组），围绝经期健康女性131例（对照组）。采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）法对5-HTT基因启动子区域多态（5-HTTLPR）位点、第2内含子上可变数目串联重复序列多态位点（Stin2）及ESR1基因第1内含子上限制性内切酶PvuⅡ（rs11155815）和XbaⅠ（rs11155816）多态位点进行基因分型。应用MDR软件对两基因交互作用与围绝经期首发抑郁障碍的关联进行分析。结果 病例组与对照组5-HTTLPR位点各基因型分布频率差异具有统计学意义（P=0.032），患病与L/L基因型呈正相关（OR=3.52，95%CI为1.36～9.09）；而两组间Stin2位点、PvuⅡ位点及XbaⅠ位点各基因型分布频率比较，差异无统计学意义（P>0.05）。基因交互作用分析结果显示，5-HTT基因及ESR1基因上的4个多态位点的交互作用与抑郁障碍存在关联（P＜0.05），其中最优模型为5-HTTLPR与XbaⅠ多态位点交互作用与疾病的关联模型（χ2=9.24，P=0.010）。结论 5-HTT基因与ESR1基因多态交互作用可能增加女性围绝经期抑郁障碍患病的风险。

关键词: 抑郁障碍, 围绝经期, 基因交互作用, 雌激素α受体基因, 5-羟色胺转运体基因

Abstract:

Objective To investigate the impact of interaction between 5-hydroxytryptamine (5-HTT) and estrogen receptor α (ESR1) gene polymorphisms on first episode depressive disorder in perimenopausal women with multifactor dimensionality reduction (MDR) method. Methods The case-control study design was adopted. Through screening and diagnosis of depressive disorder among perimenopausal women of Han ethnics in gynecological outpatients, 63 patients with depressive disorder (case group) and 131 healthy women (control group) were included. Polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) was employed for the genotyping of 5-HTT-linked polymorphic region (5-HTTLPR), variable number tandem repeats in 5-HTT gene intron 2 (Stin2) and the polymorphisms of PvuⅡ （rs11155815） and XbaⅠ（rs11155816） in ESR1 gene. MDR software was used to analyse the association of interaction between two genes with first episode depressive disorder in perimenopausal period. Results There were significant differences in genotype distribution of 5-HTTLPR between case group and control group (P=0.032), and the disease onset was positively related to L/L genotype (OR=3.52, 95%CI 1.36-9.09). However, there was no significant difference in genotype distribution of Stin2, PvuⅡ and XbaⅠbetween two groups (P>0.05). The gene interaction analysis indicated that the interaction between 5-HTT and ESR1 gene polymorphisms were significantly associated with the occurrence of depressive disorder, and the best gene-gene interaction model established by MDR software was 5-HTTLPR and XbaⅠpolymorphisms (χ2=9.24，P=0.010). Conclusion Interaction between 5-HTT and ESR1 gene polymorphisms may increase the risk of depressive disorder in perimenopausal women.

Key words: depressive disorder, perimenopause, gene-gene interaction, estrogen receptor &alpha, gene, 5-hydroxytryptamine gene