title: Association study of the estrogen receptor gene ESR1 with postpartum depression--a pilot study.
abstract: Perinatal mood disorders, such as postpartum depression (PPD), are costly for society, with potentially serious consequences for mother and child. While multiple genes appear to play a role in PPD susceptibility, the contributions of specific genetic variations remain unclear. Previously implicated as a candidate gene, the estrogen receptor alpha gene (ESR1) is a key player in mediating hormonal differences during pregnancy and the postpartum period. This study addresses genetic factors in perinatal mood disorders, testing nine polymorphisms in ESR1. Two hundred fifty-seven postpartum women were screened for mood disorders, including 52 women with PPD and 32 without any symptoms of mood disorders. We detected a significant association for the upstream TA microsatellite repeat with Edinburgh Postnatal Depression Scale scores (p = 0.007). The same variant was also associated with the occurrence of PPD. Separately, 11 candidate functional polymorphisms in 7 additional genes were genotyped to investigate gene-gene interaction with the ESR1 TA repeat, identifying a potential interaction with the serotonin transporter. Our results support a role for ESR1 in the etiology of PPD, possibly through the modulation of serotonin signaling. Our findings for ESR1 could have broad implications for other disorders and therapies that involve estrogens.
authors.affiliation: Department of Pharmacology and Program in Pharmacogenomics, The Ohio State University College of Medicine, 333 West 10th Ave, Columbus, OH, 43214, USA, pinsonneault.2@osu.edu.
authors.forename: Julia K
authors.initials: JK
authors.lastname: Pinsonneault
authors.forename: Danielle
authors.initials: D
authors.lastname: Sullivan
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Sadee
authors.forename: Claudio N
authors.initials: CN
authors.lastname: Soares
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Hampson
authors.forename: Meir
authors.initials: M
authors.lastname: Steiner
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D019052:Depression, Postpartum / Q000175:diagnosis / Q000235:genetics*; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007406:Interview, Psychological; D007407:Interviews as Topic; D016015:Logistic Models; D009035:Mothers / Q000523:psychology*; D010865:Pilot Projects; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D012307:Risk Factors; D055815:Young Adult
chemical_list: C506487:ESR1 protein, human; D047628:Estrogen Receptor alpha
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