Association of estrogen receptor single nucleotide polymorphisms and perinatal depression

This data supports findings in a nested study within the population-based prospective Biology, Affect, Stress, Imaging, and Cognition (BASIC) cohort conducted from September 9th 2009 to November 30th 2019 in Uppsala, Sweden (Written, informed consent was obtained from all participants in accordance with the Declaration of Helsinki and the research is approved by the Regional Ethical Review Board in Uppsala [Dnr 2009/171 with amendments]). The main aim of BASIC was to investigate the biopsychosocial processes in perinatal depression (PND) and to identify risk factors to improve early detection. Genetic variations in the estrogen receptor genes (ESR) have been implicated in susceptibility to depression. However, only few studies investigated them in PND and none on its different trajectories (i.e. patterns of time of onset and persistency of depression). Here, we explored the association of single nucleotide polymorphisms (SNPs) of the ESR1 and ESR2 genes with PND among 2,973 women in Sweden. PND was defined using the Edinburgh Postnatal Depression Scale, the Depression Self-Rating Scale, use of selective serotonin reuptake inhibitor, and/or medical records. PND trajectories were identified as follows: controls (no depression at any point in the perinatal period), antepartum (depression during pregnancy and resolved postpartum), postpartum-onset (no depression during pregnancy with onset after delivery), and persistent (depression throughout the perinatal period). DNA was extracted from blood using the silica-based Kleargene XL Nucleic acid extraction kit. Genotyping for ESR1 and ESR2 was performed for 2,915 individuals genotyped using the Illumina Infinium assay and Illumina Global Screening Array – Multi Diseases version 2 (GSA-MDv2) at the SNP&SEQ Technology Platform, SciLifeLab, Uppsala University. One SNP of ESR1 (rs1884051) was performed for 1,425 individuals using the Kbioscience Allele-Specific Polymorphism assay (KASP) based on competitive allele-specific PCR and bi-allelic scoring of the SNP (KBioscience/LGC®, UK). Among the BASIC participants who donated blood in late pregnancy, estradiol was analyzed in a subset of individuals (N=205). This subset was oversampled for cases with ongoing depression (i.e. EPDS ≥13 at either gestational week 17 or 32 and/or taking SSRI during pregnancy). Competitive immunometry electrochemiluminescense was used to detect estradiol in serum. Analyses were performed with a Roche Cobas Elecsys estradiol III kit (Roche Diagnostics, Bromma, Sweden). The individual data and code associated with this study, are available upon reasonable request and after necessary agreements have been signed by the involved parties. The data cannot be shared openly as they contain sensitive information and due to the characteristics of the sample, deductive disclosure cannot be completely excluded. The dataset contains demographic data and data on PND and serum estradiol, as well as ESR SNP variation calls and QC statistics for the SNP markers.