Human Reproduction, Vol. 17, No. 4, 1101-1105,
April 2002
© 2002 European Society of Human Reproduction and Embryology
Association of polymorphisms of the oestrogen receptor 
gene with the age of menarche
1 Division of Endocrinology, Department of Internal Medicine, 2 Clinical and Molecular Epidemiology Unit, Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina 45110, Greece 3 Department of Medicine, Tufts University School of Medicine, Boston, USA
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 
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.
Key words:
estrogen receptor /genetic polymorphisms/menarche/PvuII/XbaI
4 To whom correspondence should be addressed at: Department of Hygiene and Epidemiology, University of Ioannina School of Medicine, Ioannina 45110, Greece. E-mail: jioannid{at}cc.uoi.gr
* In addition to the authors, I.Georgiou and V.Kranas from the Genetics and IVF Unit, Department of Obstetrics and Gynecology, University of Ioannina School of Medicine, contributed significantly to the project. Dr Georgiou offered laboratory advice and logistical support as director of the laboratory and participated in helpful discussions. Dr Kranas offered direct supervision and guidance for the genotyping.
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