| Abstract
| - BACKGROUND: Age at menarche has a strong genetic influence. We reported recently an association between the XbaI (351A→C)and PvuII (397T→C) polymorphisms of the estrogen receptor (ER)α gene with the age of menarche in Greek adolescents. In the present study, we examined whether ERβ genotypes alone, or in combination with ERα genotypes, may also influence onset of menarche. METHODS: We performed genotyping for the single nucleotide polymorphisms 1730A→G and 1082G→A of the ERβ gene and examined their association with the age of menarche in the same cohort of 145 Greek girls. We then looked for a possible effect of combined ERα and β genotypes on the age of menarche. RESULTS: Menarche occurred 7 months later in girls with the AA genotype of the 1730A→G polymorphism than in girls with the AG genotype (mean ± SD: 13.23 ± 1.24 versus 12.66 ± 1.26 years, respectively; P = 0.005). The 1082G→A polymorphism was not detected in any of the girls examined. A significant effect of combined ERα and β genotypes was also apparent. Menarche occurred 11 months later in girls bearing the AA/TT,AA (ERα, ERβ) genotypes compared with girls with the CC/CC,AG genotype (13.30 ± 1.27 nersus 12.41 ± 1.28 years; P = 0.042). The difference remained significant after adjusting for body mass index (P = 0.034). CONCLUSION: Combined ERα and ERβ polymorphisms may influence the age of menarche.
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