The oestrogen receptor gene is linked and/or associated with age of menarche in different ethnic groups

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Abstract
Age at menarche is a complex trait that is determined by multiple environmental factors, including nutrition, exercise, socioeconomic conditions, psychosocial stimuli, childhood experience, general health,6, 7, 8, 9, 10 and genetic factors. Twin studies have shown that 53–74% of the variation in menarcheal age is attributed to genetic effects.11 Family history is a strong predictor of early menarche,10 and there are highly significant correlations between menarcheal ages of mothers and daughters.7 However, the specific genetic determinants of menarcheal age remain unclear. Oestrogen receptor α (ESR1) plays a distinct physiological role in mediating the specific effects of oestrogen12; thus the ESR1 gene may serve as a candidate gene for age at menarche. A preliminary study in Greek adolescent girls13 suggested an association between the ESR1 gene and age at menarche. However, such an association was not observed in Japanese women14 or Dutch women.15, 16

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