Association of polymorphisms of the oestrogen receptoralpha gene with the age of menarche

Stavrou, I.

doi:10.1093/humrep/17.4.1101

Cited by 126Hypothalamic control of reproductive hormonesEstrogen and related hormone effectsGenetic Associations and Epidemiology

The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.

Association of polymorphisms of the oestrogen receptoralpha gene with the age of menarche

Stavrou, I.·2002·Human Reproduction

DOI 10.1093/humrep/17.4.1101

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Abstract

BACKGROUND: The age of menarche may be subject to hereditary influences, but the specific genetic determinants are largely unknown. We evaluated whether the XbaI and PvuII polymorphisms of the estrogen receptor alpha gene are associated with the age of menarche. METHODS: We performed genotyping for XbaI and PvuII in a cohort of 145 adolescent females from a closed community in North-Western Greece. RESULTS: There was strong linkage disequilibrium between the two polymorphisms. Menarche occurred later in girls with the XX genotype than in girls with the Xx or xx genotype (mean +/- SD: 13.36 +/- 1.24 versus 12.80 +/- 1.14 and 12.75 +/- 1.35 years respectively; P = 0.017). Menarche also tended to occur later in PP homozygotes than in Pp and pp subjects, but the difference was not significant (mean +/- SD: 13.09 +/- 1.29 versus 12.80 +/- 1.19 and 12.85 +/- 1.33 years respectively). The strongest effect was seen when the PX haplotype was considered [mean +/- SD: 13.43 +/- 1.18 years for homozygotes versus 12.76 +/- 1.25 years in heterozygotes and in subjects without the PX allele, P = 0.006]. CONCLUSIONS: We document that the XbaI polymorphism, and possibly PvuII, may be genetic determinants of the age of menarche.

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ESR1 encodes an estrogen receptor essential for sexual development and reproductive function, and polymorphisms in ESR1 have previously been nominally associated with age at menarche.
“ESR1 encodes an estrogen receptor that is essential for sexual development and reproductive function, and polymorphisms in ESR1 have previously been nominally associated with age at menarche33.”
From Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies (2010) · cites this paper as [33]

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Combined estrogen receptor α and estrogen receptor β genotypes influence the age of menarche
Stavrou, I., Zois, C. D., Chatzikyriakidou, A., Georgiou, I. A., & Tsatsoulis, A. A. (2005) · Human Reproduction · doi:10.1093/humrep/dei326 · Cited by 51
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Height at menarche is influenced by estrogen receptor α gene polymorphisms
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ASSOCIATION OF ESTROGEN RECEPTOR Α PVU II AND XBAI GENE POLYMORPHISMS WITH BREAST CANCER RISK; RELATION TO THE AGE OF MENARCHE AND MENOPAUSE
Al-Tahhan, M., Etewa, L., & Refaat, D. O. (2010) · Bulletin of Egyptian Society for Physiological Sciences · doi:10.21608/besps.2010.36302
Study of Xbal and Pvull polymorphisms of estrogen receptor alpha (ERα) gene in girls with precocious/early puberty
Theodoropoulou, S., Papadopoulou, A., Karapanou, O., Priftis, K. Ν., Papaevangelou, V., & Papadimitriou, A. (2021) · Endocrine · doi:10.1007/s12020-021-02695-0 · Cited by 8
Estrogen-Metabolizing Gene Polymorphisms, But Not Estrogen Receptor-α Gene Polymorphisms, Are Associated with the Onset of Menarche in Healthy Postmenopausal Japanese Women
Gorai, I., Tanaka, K., Inada, M., Morinaga, H., Uchiyama, Y., Kikuchi, R., Chaki, O., & Hirahara, F. (2003) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2002-020353 · Cited by 104

Authors: Stavrou, I.
Affiliations: University of Ioannina (GR)
Corresponding author: Stavrou, I.
Venue: Human Reproduction
Publisher: Oxford University Press (OUP)
Published: 2002-04-01
Volume: 17
Issue: 4
Pages: 1101-1105
ISSN: 0268-1161 (ISSN-L)
1460-2350
DOI: 10.1093/humrep/17.4.1101
OpenAlex: W2158185741
Cited by: 126
References: 34
Citations by year: 2025: 1 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 4 · 2020: 1 · 2019: 1 · 2018: 6 · 2017: 2 · 2016: 4 · 2014: 5 · 2013: 7 · 2012: 9
FWCI: 6.38
Type: journal article
Language: en
Open access: closed
Locations: Human Reproduction (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
Life Sciences › Biochemistry, Genetics and Molecular Biology › Endocrinology › Estrogen and related hormone effects
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
Keywords: age at menarche, estrogen receptor alpha, ESR1 gene, XbaI polymorphism, PvuII polymorphism, linkage disequilibrium, haplotype association, adolescent girls
MeSH terms: Adolescent, Aging, Alleles, Child, Female, Genotype, Haplotypes, Heterozygote, Homozygote, Humans, Menarche, Polymorphism, Genetic, Receptors, Estrogen, Cohort Studies, Linkage Disequilibrium, Estrogen Receptor alpha

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Association of polymorphisms of the oestrogen receptoralpha gene with the age of menarche

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