Tan Ene-Choo, Lim Hwee-Woon, Chua Tze-Ern, Tan Hui-San, Lee Theresa My, Chen Helen Y
KK Research Centre, KK Women's and Children's Hospital, Singapore, Singapore.
Paediatrics Academic Clinical Programme, SingHealth Duke-NUS Medical School, Singapore, Singapore.
Neuropsychiatr Dis Treat. 2018 Mar 29;14:919-925. doi: 10.2147/NDT.S160424. eCollection 2018.
Depressive symptoms are common during pregnancy and after childbirth. Estrogen levels fluctuate greatly during the course of pregnancy and may contribute to mood instability. The first aim of this case-control study was to investigate whether variants in the two estrogen receptor genes might contribute to the genetic susceptibility to pregnancy-related depression using controls that were screened for postnatal depression. The second aim was to uncover new variants in the two estrogen receptor genes.
Our study sample comprised 554 control subjects who had Edinburgh Postnatal Depression Scale (EPDS) scores below 7 at postnatal screening, and 159 patients with clinically diagnosed pregnancy-related depression. They were genotyped for four single-nucleotide polymorphisms (SNPs) and a dinucleotide repeat in the two genes: estrogen receptor α () and estrogen receptor β (). Fifty-six cases with personal and/or family history of depression of psychiatric disorders were selected for resequencing of the two genes.
There was no statistically significant association with perinatal depression for all five variants. However, there was a trend toward higher frequencies of the genotypes associated with higher risk of depression for rs2077647 and rs4986938 in the case group. From resequencing, two novel variants were identified from two different patients.
Our study that used screened controls with low EPDS scores and cases with clinically diagnosed pregnancy-related depression could not replicate the association with depression for any of the SNPs for both genotype and allele frequencies. Two novel SNPs were identified and could be further investigated in a larger sample set.
抑郁症状在孕期及产后较为常见。孕期雌激素水平波动极大，可能导致情绪不稳定。本病例对照研究的首要目的是，通过对产后抑郁进行筛查的对照，调查两个雌激素受体基因的变异是否可能导致与妊娠相关抑郁症的遗传易感性。第二个目的是发现两个雌激素受体基因中的新变异。
我们的研究样本包括554名在产后筛查时爱丁堡产后抑郁量表（EPDS）得分低于7分的对照者，以及159名临床诊断为与妊娠相关抑郁症的患者。对两个基因（雌激素受体α（）和雌激素受体β（））中的四个单核苷酸多态性（SNP）和一个二核苷酸重复序列进行基因分型。选择56例有个人和/或家族精神障碍抑郁病史的病例对这两个基因进行重测序。
所有五个变异与围产期抑郁均无统计学显著关联。然而，病例组中rs2077647和rs4986938的基因型频率有升高趋势，这些基因型与更高的抑郁风险相关。通过重测序，从两名不同患者中鉴定出两个新的变异。
我们使用EPDS得分低的筛查对照和临床诊断为与妊娠相关抑郁症的病例进行的研究，未能在基因型和等位基因频率方面重复任何SNP与抑郁症的关联。鉴定出两个新的SNP，可在更大样本集中进一步研究。
