Height at menarche is influenced by estrogen receptor α gene polymorphisms

Background: It has been suggested that polymorphic variations in estrogen receptors (ERs) genes may have an impact on linear growth of girls during puberty. Aim: The aim of the study was to investigate whether height at menarche is influenced by PvuII and XbaI polymorphisms of the ERα gene. Subjects and methods: The study population consisted of 127 healthy girls, who were observed from premenarcheal period at six monthly intervals, until menarche occurred in all participants. Anthropometric measurements were taken at each visit and their values at menarche were calculated using centile curves drawn individually for each subject. PvuII and XbaI ERα gene polymorphisms were evaluated with RLFP-PCR. Results: The age at menarche was not related to ERα gene polymorphisms. Girls with pp genotype were at menarche on average 3.2 cm shorter than PP homozygotes and in addition xx homozygotes were shorter than subjects with XX and Xx genotypes: 3.0 cm and 3.9 cm respectively. Subjects with px haplotype were, at the onset of the first menstrual period, from 2.3 cm to 3.1 cm shorter than carriers of other haplotypes. The leg length-to-height ratio at menarche was lower in xx homozygotes than in Xx heterozygotes and lower in px haplotype in comparison to Px and pX haplotypes carriers. Corresponding associations were observed at the final visit. Conclusions: Height at menarche is influenced by the ERα gene polymorphism.