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The oestrogen receptor α gene is linked and/or associated with age of menarche in different ethnic groups
  1. J-R Long1,
  2. H Xu4,
  3. L-J Zhao1,
  4. P-Y Liu1,
  5. H Shen1,
  6. Y-J Liu1,
  7. D-H Xiong1,
  8. P Xiao1,
  9. Y-Z Liu1,
  10. V Dvornyk1,
  11. J-L Li3,
  12. R R Recker1,
  13. H-W Deng1,2,4
  1. 1Osteoporosis Research Centre and Department of Biomedical Sciences, Creighton University, Omaha, Nebraska, USA
  2. 2The Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, Xi’an Jiaotong University, Xi’an, China
  3. 3Center for Medical Informatics, School of Medicine, Yale University, New Haven, Connecticut, USA
  4. 4Laboratory of Molecular and Statistical Genetics, College of Life Sciences, Hunan Normal University, Changsha, Hunan, China
  1. Correspondence to:
 Dr Hong-Wen Deng
 Osteoporosis Research Center, Creighton University, 601 N 30th St, Suite 6787, Omaha, Nebraska 68131, USA;

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The first menstrual period, menarche, is one of the most significant milestones in a woman’s life. The age at menarche is an important anthropological variable which may influence the overall duration of tissue oestrogen exposure and then affect health in later life. Early menarche is a well established risk factor for the development of breast cancer1 and endometrial cancer.2 Women with a menarcheal age of 10 or 11 years have a 2.2 times greater risk of breast cancer than women who had their first menstrual period at the age of 12 years or more.1 Those with a menarcheal age of 17 years or more have a 45% lower risk of endometrial cancer.2 Early age at menarche is also associated with a risk for obesity3 and depression in later life.4 On the other hand, late menarche is associated with lower bone mass and an increased risk of osteoporotic fractures5 and Alzheimer’s disease.6 Therefore an understanding of potential factors responsible for the age of menarche is of considerable interest and may shed light on our understanding of these diseases.

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 …

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  • Competing interests: none declared