Genetic variants in the genes of the sex steroid hormone metabolism and depressive symptoms during and after pregnancy.
COMT
CYP19A1
Depression
EPDS
ESR1
PGR
Single nucleotide polymorphisms
Journal
Archives of gynecology and obstetrics
ISSN: 1432-0711
Titre abrégé: Arch Gynecol Obstet
Pays: Germany
ID NLM: 8710213
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
received:
10
02
2022
accepted:
23
05
2022
medline:
1
5
2023
pubmed:
11
6
2022
entrez:
10
6
2022
Statut:
ppublish
Résumé
The aim of this study was to conduct an association analysis of depressive symptoms and polymorphisms in the ESR1, PGR, CYP19A1, and COMT genes in pregnant and postpartum women. The Franconian Maternal Health Evaluation Study (FRAMES) recruited healthy pregnant women prospectively for assessment of maternal and fetal health. The German version of the 10-item Edinburgh Postnatal Depression Scale (EPDS) was completed at three time points in this prospective cohort study. Visit 1 was at study entry in the third trimester of pregnancy, visit 2 was shortly after birth, and visit 3 was 6-8 months after birth. Germline DNA and depression measurements from 361 pregnant women were available for analysis. Six single nucleotide polymorphisms (SNPs) in the above-mentioned genes were genotyped. After reconstruction of haplotypes for PGR (rs1042838 and rs10895068) and CYP19A1 (rs10046 and rs4646), a multifactorial linear mixed model was applied to the data to describe the association between haplotypes and depression values. The single SNPs for ESR1 (rs488133) and COMT (rs4680) were analyzed separately using linear mixed models analogously. The mean antepartum EPDS measurement was 5.1, the mean postpartal measurement after 48-72 h was 3.5, and the mean value 6-8 months postpartum was 4.2. The SNPs in PGR were reconstructed into three haplotypes. The most common haplotype was GG, with 63.43% of patients carrying two copies and 33.52% carrying one copy. For haplotype GA, the group of carriers of two copies (0.28%) was combined with the carriers of one copy (9.70%). Haplotype reconstruction using CYP19A1 SNPs resulted in three haplotypes. The most common haplotype was TC, with 25.48% of patients carrying two copies and 51.52% one copy. None of the haplotype blocks and neither of the two single SNPs showed any significant associations with EPDS values. The candidate haplotypes analyzed in PGR and CYP19A1 and single SNPs in ESR1 and COMT did not show any association with depression scores as assessed by EPDS in this cohort of healthy unselected pregnant women.
Identifiants
pubmed: 35680688
doi: 10.1007/s00404-022-06644-8
pii: 10.1007/s00404-022-06644-8
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1763-1770Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Références
Becker M, Weinberger T, Chandy A, Schmukler S (2016) Depression during pregnancy and postpartum. Curr Psychiatry Rep 18(3):32
pubmed: 26879925
doi: 10.1007/s11920-016-0664-7
Wisner KL, Sit DK, McShea MC, Rizzo DM, Zoretich RA, Hughes CL et al (2013) Onset timing, thoughts of self-harm, and diagnoses in postpartum women with screen-positive depression findings. JAMA Psychiat 70(5):490–498
doi: 10.1001/jamapsychiatry.2013.87
Howard MM, Mehta ND, Powrie R (2017) Peripartum depression: early recognition improves outcomes. Cleve Clin J Med 84(5):388–396
pubmed: 28530897
doi: 10.3949/ccjm.84a.14060
Eichler A, Walz L, Grunitz J, Grimm J, Van Doren J, Raabe E et al (2017) Children of prenatally depressed mothers: externalizing and internalizing symptoms are accompanied by reductions in specific social-emotional competencies. J Child Fam Stud 26(11):3135–3144
doi: 10.1007/s10826-017-0819-0
Peltonen H, Paavonen EJ, Saarenpaa-Heikkila O, Vahlberg T, Paunio T, Polo-Kantola P (2022) Sleep disturbances and depressive and anxiety symptoms during pregnancy: associations with delivery and newborn health. Arch Gynecol Obstet. https://doi.org/10.1007/s00404-022-06560-x
doi: 10.1007/s00404-022-06560-x
pubmed: 35461389
pmcid: 9984335
Metz TD, Rovner P, Hoffman MC, Allshouse AA, Beckwith KM, Binswanger IA (2016) Maternal deaths from suicide and overdose in Colorado, 2004–2012. Obstet Gynecol 128(6):1233–1240
pubmed: 27824771
pmcid: 5121076
doi: 10.1097/AOG.0000000000001695
Couto TC, Brancaglion MY, Alvim-Soares A, Moreira L, Garcia FD, Nicolato R et al (2015) Postpartum depression: a systematic review of the genetics involved. World J Psychiatry 5(1):103–111
pubmed: 25815259
pmcid: 4369539
doi: 10.5498/wjp.v5.i1.103
Tebeka S, Le Strat Y, De Premorel HA, Benachi A, Dommergues M, Kayem G et al (2021) Prevalence and incidence of postpartum depression and environmental factors: The IGEDEPP cohort. J Psychiatr Res 138:366–374
pubmed: 33932643
doi: 10.1016/j.jpsychires.2021.04.004
Viktorin A, Meltzer-Brody S, Kuja-Halkola R, Sullivan PF, Landen M, Lichtenstein P et al (2016) Heritability of perinatal depression and genetic overlap with nonperinatal depression. Am J Psychiatry 173(2):158–165
pubmed: 26337037
doi: 10.1176/appi.ajp.2015.15010085
Sun HS, Tsai HW, Ko HC, Chang FM, Yeh TL (2004) Association of tryptophan hydroxylase gene polymorphism with depression, anxiety and comorbid depression and anxiety in a population-based sample of postpartum Taiwanese women. Genes Brain Behav 3(6):328–336
pubmed: 15544576
doi: 10.1111/j.1601-183X.2004.00085.x
Lin YM, Ko HC, Chang FM, Yeh TL, Sun HS (2009) Population-specific functional variant of the TPH2 gene 2755C > A polymorphism contributes risk association to major depression and anxiety in Chinese peripartum women. Arch Womens Ment Health 12(6):401–408
pubmed: 19588223
doi: 10.1007/s00737-009-0088-z
Fasching PA, Faschingbauer F, Goecke TW, Engel A, Haberle L, Seifert A et al (2012) Genetic variants in the tryptophan hydroxylase 2 gene (TPH2) and depression during and after pregnancy. J Psychiatr Res 46(9):1109–1117
pubmed: 22721547
doi: 10.1016/j.jpsychires.2012.05.011
Pinsonneault JK, Sullivan D, Sadee W, Soares CN, Hampson E, Steiner M (2013) Association study of the estrogen receptor gene ESR1 with postpartum depression—a pilot study. Arch Womens Ment Health 16(6):499–509
pubmed: 23917948
doi: 10.1007/s00737-013-0373-8
Sanjuan J, Martin-Santos R, Garcia-Esteve L, Carot JM, Guillamat R, Gutierrez-Zotes A et al (2008) Mood changes after delivery: role of the serotonin transporter gene. Br J Psychiatry 193(5):383–388
pubmed: 18978318
doi: 10.1192/bjp.bp.107.045427
Mitchell C, Notterman D, Brooks-Gunn J, Hobcraft J, Garfinkel I, Jaeger K et al (2011) Role of mother’s genes and environment in postpartum depression. Proc Natl Acad Sci USA 108(20):8189–8193
pubmed: 21576482
pmcid: 3100926
doi: 10.1073/pnas.1014129108
Mehta D, Quast C, Fasching PA, Seifert A, Voigt F, Beckmann MW et al (2012) The 5-HTTLPR polymorphism modulates the influence on environmental stressors on peripartum depression symptoms. J Affect Disord 136(3):1192–1197
pubmed: 22209125
doi: 10.1016/j.jad.2011.11.042
Comasco E, Sylven SM, Papadopoulos FC, Sundstrom-Poromaa I, Oreland L, Skalkidou A (2011) Postpartum depression symptoms: a case-control study on monoaminergic functional polymorphisms and environmental stressors. Psychiatr Genet 21(1):19–28
pubmed: 21099450
doi: 10.1097/YPG.0b013e328341a3c1
Doornbos B, Dijck-Brouwer DA, Kema IP, Tanke MA, van Goor SA, Muskiet FA et al (2009) The development of peripartum depressive symptoms is associated with gene polymorphisms of MAOA, 5-HTT and COMT. Prog Neuropsychopharmacol Biol Psychiatry 33(7):1250–1254
pubmed: 19625011
doi: 10.1016/j.pnpbp.2009.07.013
Alvim-Soares A, Miranda D, Campos SB, Figueira P, Romano-Silva MA, Correa H (2013) Postpartum depression symptoms associated with Val158Met COMT polymorphism. Arch Womens Ment Health 16(4):339–340
pubmed: 23636476
doi: 10.1007/s00737-013-0349-8
Bloch M, Schmidt PJ, Danaceau M, Murphy J, Nieman L, Rubinow DR (2000) Effects of gonadal steroids in women with a history of postpartum depression. Am J Psychiatry 157(6):924–930
pubmed: 10831472
doi: 10.1176/appi.ajp.157.6.924
Schiller CE, Meltzer-Brody S, Rubinow DR (2015) The role of reproductive hormones in postpartum depression. CNS Spectr 20(1):48–59
pubmed: 25263255
doi: 10.1017/S1092852914000480
Kerlan V, Nahoul K, Le Martelot MT, Bercovici JP (1994) Longitudinal study of maternal plasma bioavailable testosterone and androstanediol glucuronide levels during pregnancy. Clin Endocrinol 40(2):263–267
doi: 10.1111/j.1365-2265.1994.tb02478.x
Klier CM, Muzik M, Dervic K, Mossaheb N, Benesch T, Ulm B et al (2007) The role of estrogen and progesterone in depression after birth. J Psychiatr Res 41(3–4):273–279
pubmed: 17049560
doi: 10.1016/j.jpsychires.2006.09.002
Sundermann EE, Maki PM, Bishop JR (2010) A review of estrogen receptor alpha gene (ESR1) polymorphisms, mood, and cognition. Menopause 17(4):874–886
pubmed: 20616674
pmcid: 2901885
doi: 10.1097/gme.0b013e3181df4a19
Palmirotta R, Barbanti P, Ialongo C, De Marchis ML, Alessandroni J, Egeo G et al (2015) Progesterone receptor gene (PROGINS) polymorphism correlates with late onset of migraine. DNA Cell Biol 34(3):208–212
pubmed: 25494303
pmcid: 4337459
doi: 10.1089/dna.2014.2534
Worda C, Sator MO, Schneeberger C, Jantschev T, Ferlitsch K, Huber JC (2003) Influence of the catechol-O-methyltransferase (COMT) codon 158 polymorphism on estrogen levels in women. Hum Reprod 18(2):262–266
pubmed: 12571159
doi: 10.1093/humrep/deg059
Ancelin ML, Norton J, Canonico M, Scarabin PY, Ritchie K, Ryan J (2019) Aromatase (CYP19A1) gene variants, sex steroid levels, and late-life depression. Depress Anxiety. https://doi.org/10.1002/da.22974
doi: 10.1002/da.22974
pubmed: 31730745
Craddock N, Owen MJ, O’Donovan MC (2006) The catechol-O-methyl transferase (COMT) gene as a candidate for psychiatric phenotypes: evidence and lessons. Mol Psychiatry 11(5):446–458
pubmed: 16505837
doi: 10.1038/sj.mp.4001808
Antypa N, Drago A, Serretti A (2013) The role of COMT gene variants in depression: bridging neuropsychological, behavioral and clinical phenotypes. Neurosci Biobehav Rev 37(8):1597–1610
pubmed: 23792050
doi: 10.1016/j.neubiorev.2013.06.006
Reulbach U, Bleich S, Knorr J, Burger P, Fasching PA, Kornhuber J et al (2009) Pre-, peri- and postpartal depression. Fortschr Neurol Psychiatr 77(12):708–713
pubmed: 19859869
doi: 10.1055/s-0028-1109822
Hein A, Rauh C, Engel A, Haberle L, Dammer U, Voigt F et al (2013) Socioeconomic status and depression during and after pregnancy in the Franconian Maternal Health Evaluation Studies (FRAMES). Arch Gynecol Obstet. https://doi.org/10.1007/s00404-013-3046-y
doi: 10.1007/s00404-013-3046-y
pubmed: 24121691
Rauh C, Beetz A, Burger P, Engel A, Haberle L, Fasching PA et al (2012) Delivery mode and the course of pre- and postpartum depression. Arch Gynecol Obstet 286(6):1407–1412
pubmed: 22847745
doi: 10.1007/s00404-012-2470-8
Schneider M, Engel A, Fasching PA, Haberle L, Binder EB, Voigt F et al (2014) Genetic variants in the genes of the stress hormone signalling pathway and depressive symptoms during and after pregnancy. Biomed Res Int 2014:469278
pubmed: 24741566
pmcid: 3972848
doi: 10.1155/2014/469278
Bergant AM, Nguyen T, Heim K, Ulmer H, Dapunt O (1998) German language version and validation of the Edinburgh postnatal depression scale. Dtsch Med Wochenschr 123(3):35–40
pubmed: 9472218
doi: 10.1055/s-2007-1023895
Mitchell AM, Mittelstaedt ME, Schott-Baer D (2006) Postpartum depression: the reliability of telephone screening. MCN Am J Matern Child Nurs 31(6):382–387
pubmed: 17149115
doi: 10.1097/00005721-200611000-00010
Schaid DJ, Rowland CM, Tines DE, Jacobson RM, Poland GA (2002) Score tests for association between traits and haplotypes when linkage phase is ambiguous. Am J Hum Genet 70(2):425–434
pubmed: 11791212
doi: 10.1086/338688
Mehta D, Newport DJ, Frishman G, Kraus L, Rex-Haffner M, Ritchie JC et al (2014) Early predictive biomarkers for postpartum depression point to a role for estrogen receptor signaling. Psychol Med 44(11):2309–2322
pubmed: 24495551
doi: 10.1017/S0033291713003231
Segman RH, Goltser-Dubner T, Weiner I, Canetti L, Galili-Weisstub E, Milwidsky A et al (2010) Blood mononuclear cell gene expression signature of postpartum depression. Mol Psychiatry 15(1):93–100, 2
pubmed: 19581911
doi: 10.1038/mp.2009.65
Guintivano J, Arad M, Gould TD, Payne JL, Kaminsky ZA (2014) Antenatal prediction of postpartum depression with blood DNA methylation biomarkers. Mol Psychiatry 19(5):560–567
pubmed: 23689534
doi: 10.1038/mp.2013.62
Tan EC, Lim HW, Chua TE, Tan HS, Lee TM, Chen HY (2018) Investigation of variants in estrogen receptor genes and perinatal depression. Neuropsychiatr Dis Treat 14:919–925
pubmed: 29636617
pmcid: 5880413
doi: 10.2147/NDT.S160424
Chen J, Lipska BK, Halim N, Ma QD, Matsumoto M, Melhem S et al (2004) Functional analysis of genetic variation in catechol-O-methyltransferase (COMT): effects on mRNA, protein, and enzyme activity in postmortem human brain. Am J Hum Genet 75(5):807–821
pubmed: 15457404
pmcid: 1182110
doi: 10.1086/425589
Wang M, Ma Y, Yuan W, Su K, Li MD (2016) Meta-analysis of the COMT Val158Met polymorphism in major depressive disorder: effect of ethnicity. J Neuroimmune Pharmacol 11(3):434–445
pubmed: 26803486
doi: 10.1007/s11481-016-9651-3
Nackley AG, Shabalina SA, Tchivileva IE, Satterfield K, Korchynskyi O, Makarov SS et al (2006) Human catechol-O-methyltransferase haplotypes modulate protein expression by altering mRNA secondary structure. Science 314(5807):1930–1933
pubmed: 17185601
doi: 10.1126/science.1131262
Ghali RM, Al-Mutawa MA, Ebrahim BH, Jrah HH, Zaied S, Bhiri H et al (2020) Progesterone receptor (PGR) gene variants associated with breast cancer and associated features: a case-control study. Pathol Oncol Res 26(1):141–147
pubmed: 29302853
doi: 10.1007/s12253-017-0379-z
Srivastava A, Sharma KL, Srivastava N, Misra S, Mittal B (2012) Significant role of estrogen and progesterone receptor sequence variants in gallbladder cancer predisposition: a multi-analytical strategy. PLoS ONE 7(7):e40162
pubmed: 22808109
pmcid: 3393738
doi: 10.1371/journal.pone.0040162
Bahia W, Finan RR, Al-Mutawa M, Haddad A, Soua A, Janhani F et al (2018) Genetic variation in the progesterone receptor gene and susceptibility to recurrent pregnancy loss: a case-control study. BJOG Int J Obstet Gynaecol 125(6):729–735
doi: 10.1111/1471-0528.14949
Sit DK, Wisner KL (2009) Identification of postpartum depression. Clin Obstet Gynecol 52(3):456–468
pubmed: 19661761
pmcid: 2736559
doi: 10.1097/GRF.0b013e3181b5a57c
Navarro P, Ascaso C, Garcia-Esteve L, Aguado J, Torres A, Martin-Santos R (2007) Postnatal psychiatric morbidity: a validation study of the GHQ-12 and the EPDS as screening tools. Gen Hosp Psychiatry 29(1):1–7
pubmed: 17189737
doi: 10.1016/j.genhosppsych.2006.10.004
Murray L, Carothers AD (1990) The validation of the Edinburgh post-natal depression scale on a community sample. Br J Psychiatry 157(2):288–290
pubmed: 2224383
doi: 10.1192/bjp.157.2.288
Harris B, Huckle P, Thomas R, Johns S, Fung H (1989) The use of rating scales to identify post-natal depression. Br J Psychiatry 154(6):813–817
pubmed: 2597888
doi: 10.1192/bjp.154.6.813
Eberhard-Gran M, Eskild A, Tambs K, Opjordsmoen S, Ove SS (2001) Review of validation studies of the Edinburgh postnatal depression scale. Acta Psychiatr Scand 104(4):243–249
pubmed: 11722298
doi: 10.1111/j.1600-0447.2001.00187.x
Park SH, Kim JI (2022) Predictive validity of the Edinburgh postnatal depression scale and other tools for screening depression in pregnant and postpartum women: a systematic review and meta-analysis. Arch Gynecol Obstet. https://doi.org/10.1007/s00404-022-06525-0
doi: 10.1007/s00404-022-06525-0
pubmed: 35416478