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