Risk for premenstrual dysphoric disorder is associated with genetic variation in ESR1, the estrogen receptor alpha gene
- PMID: 17599809
- PMCID: PMC2762203
- DOI: 10.1016/j.biopsych.2006.12.019
Risk for premenstrual dysphoric disorder is associated with genetic variation in ESR1, the estrogen receptor alpha gene
Abstract
Background: Premenstrual dysphoric disorder (PMDD) is a heritable mood disorder that is triggered by gonadal steroids during the luteal phase in susceptible women.
Methods: We performed haplotype analyses of estrogen receptors alpha and beta (ESR1 and ESR2) in 91 women with prospectively confirmed PMDD and 56 control subjects to investigate possible sources of the genetic susceptibility to affective dysregulation induced by normal levels of gonadal steroids. We also examined associations with the valine (Val)158methionine (Met) single nucleotide polymorphism (SNP) of the gene for catechol-O-methyltransferase (COMT), an enzyme involved in estrogen metabolism and prefrontal cortical activation.
Results: Four SNPs in intron 4 of ESR1 showed significantly different genotype and allele distributions between patients and control subjects. Significant case-control differences were seen in sliding-window analyses of two-, three-, and four-marker haplotypes but only in those haplotypes containing SNPs in intron 4 that were positive in the single-locus analysis. No significant associations were observed with ESR2 or with the COMT Val158Met polymorphism, although the significant associations with ESR1 were observed only in those with the Val/Val genotype.
Conclusions: These are the first positive (albeit preliminary) genetic findings in this reproductive endocrine-related mood disorder and involve the receptor for a hormone that is pathogenically relevant.
Figures
Similar articles
-
Analyses of variants located in estrogen metabolism genes (ESR1, ESR2, COMT and APOE) and schizophrenia.Schizophr Res. 2008 Mar;100(1-3):308-15. doi: 10.1016/j.schres.2007.11.001. Epub 2007 Dec 31. Schizophr Res. 2008. PMID: 18164902
-
Estrogen receptor beta (ESR2) polymorphisms in interaction with estrogen receptor alpha (ESR1) and insulin-like growth factor I (IGF1) variants influence the risk of fracture in postmenopausal women.J Bone Miner Res. 2006 Sep;21(9):1443-56. doi: 10.1359/jbmr.060605. J Bone Miner Res. 2006. PMID: 16939403
-
Estrogen receptor genotypes and haplotypes associated with breast cancer risk.Cancer Res. 2004 Dec 15;64(24):8891-900. doi: 10.1158/0008-5472.CAN-04-1256. Cancer Res. 2004. PMID: 15604249
-
A review of estrogen receptor alpha gene (ESR1) polymorphisms, mood, and cognition.Menopause. 2010 Jul;17(4):874-86. doi: 10.1097/gme.0b013e3181df4a19. Menopause. 2010. PMID: 20616674 Free PMC article. Review.
-
Polymorphisms of estrogen receptors and risk of depression: therapeutic implications.Drugs. 2012 Sep 10;72(13):1725-38. doi: 10.2165/11635960-000000000-00000. Drugs. 2012. PMID: 22901010 Review.
Cited by
-
The potential role of the orexin system in premenstrual syndrome.Front Endocrinol (Lausanne). 2024 Jan 16;14:1266806. doi: 10.3389/fendo.2023.1266806. eCollection 2023. Front Endocrinol (Lausanne). 2024. PMID: 38292774 Free PMC article. Review.
-
Depression in Women: Potential Biological and Sociocultural Factors Driving the Sex Effect.Neuropsychobiology. 2024;83(1):2-16. doi: 10.1159/000531588. Epub 2024 Jan 25. Neuropsychobiology. 2024. PMID: 38272005 Free PMC article. Review.
-
Reproducible stability of verbal and spatial functions along the menstrual cycle.Neuropsychopharmacology. 2024 May;49(6):933-941. doi: 10.1038/s41386-023-01789-9. Epub 2024 Jan 24. Neuropsychopharmacology. 2024. PMID: 38267632 Free PMC article.
-
Diagnostic validity of premenstrual dysphoric disorder: revisited.Front Glob Womens Health. 2023 Nov 27;4:1181583. doi: 10.3389/fgwh.2023.1181583. eCollection 2023. Front Glob Womens Health. 2023. PMID: 38090047 Free PMC article. Review.
-
Premenstrual Syndrome and Premenstrual Dysphoric Disorder's Impact on Quality of Life, and the Role of Physical Activity.Medicina (Kaunas). 2023 Nov 20;59(11):2044. doi: 10.3390/medicina59112044. Medicina (Kaunas). 2023. PMID: 38004093 Free PMC article. Review.
References
-
- Bailey JA, Nephew KP. Strain differences in tamoxifen sensitivity of Sprague-Dawley and Fischer 344 rats. Anti-Cancer Drugs. 2002;13:939–948. - PubMed
-
- Barrett JC, Fry B, Maller J, Daly MJ. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics. 2005;21:263–265. - PubMed
-
- Battersby S, Ogilvie AD, Blackwood DHR, Shen S, Muqit MMK, Muir WJ, et al. Presence of multiple functional polyadenylation signals and a single nucleotide polymorphism in the 3′ untranslated region of the human serotonin transporter gene. J Neurochem. 1999;72:1384–1388. - PubMed
-
- Beilin J, Zajac JD. Function of the human androgen receptor varies according to CAG repeat number within the normal range. Abstr 81st Annu Meeting Endocr Soc. 1999:500.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Other Literature Sources
Medical
Miscellaneous