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Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty

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주제분류소아과학

초록

Purpose: There were a lot of reports regarding associations of polymorphisms in the estrogen receptor α (ESR1 ). with many disorders. But, those with constitutional delay of growth and puberty (CDGP) are not known. Our aim is to find out any association between CDGP and ESR1 . Methods: In a total of 27 subjects, we compared 7 CDGP patients with 20 healthy controls with their heights and sexual maturity rates were within normal range. We selected three single nucleotide polymorphisms from intron 1 of ESR1 (rs3778609,rs12665044, and rs827421) as candidates, respectively. Results: In genotype analyses, the frequency of G/G genotype at rs827421 in intron 1of ESR1 was increased in CDGP boys (P =0.03). Conclusion: The genetic variation of ESR1 can be a contributing factor of tempo of growth and puberty.

Abstract

Purpose: There were a lot of reports regarding associations of polymorphisms in the estrogen receptor α (ESR1 ). with many disorders. But, those with constitutional delay of growth and puberty (CDGP) are not known. Our aim is to find out any association between CDGP and ESR1 . Methods: In a total of 27 subjects, we compared 7 CDGP patients with 20 healthy controls with their heights and sexual maturity rates were within normal range. We selected three single nucleotide polymorphisms from intron 1 of ESR1 (rs3778609,rs12665044, and rs827421) as candidates, respectively. Results: In genotype analyses, the frequency of G/G genotype at rs827421 in intron 1of ESR1 was increased in CDGP boys (P =0.03). Conclusion: The genetic variation of ESR1 can be a contributing factor of tempo of growth and puberty.

참고문헌 (33)

  1. Palmert MR, "Genetic approaches to stature, pubertal timing, and other complex traits", Mol Genet Metab, 80, pp.1~10 (2003)
  2. Cousminer DL, "Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity", Hum Mol Genet, 22, pp.2735~2747 (2013)
  3. Choi JH, "Control of puberty : genetics, endocrinology, and environment", Curr Opin Endocrinol Diabetes Obes, 20, pp.62~68 (2013)
  4. Gajdos ZK, "Genetic determinants of pubertal timing in the general population", Mol Cell Endocrinol, 324, pp.21~29 (2010)
  5. Gajdos ZK, "What controls the timing of puberty? An update on progress from genetic investigation", Curr Opin Endocrinol Diabetes Obes, 16, pp.16~24 (2009)
  6. Banerjee I, "The genetic basis for the timing of human puberty", J Neuroendocrinol, 19, pp.831~838 (2007)
  7. Harrington J, "Clinical review: distinguishing constitutional delay of growth and puberty from isolated hypogonadotropic hypogonadism: critical appraisal of available diagnostic tests", J Clin Endocrinol Metab, 97, pp.3056~3067 (2012)
  8. Segal TY, "Role of gonadotropin-releasing hormone and human chorionic gonadotropin stimulation tests in differentiating patients with hypogonadotropic hypogonadism from those with constitutional delay of growth and puberty", J Clin Endocrinol Metab, 94, pp.780~785 (2009)
  9. Kauschansky A, "Use of GnRH agonist and human chorionic gonadotrophin tests for differentiating constitutional delayed puberty from gonadotrophin deficiency in boys", Clin Endocrinol (Oxf), 56, pp.603~607 (2002)
  10. Nam HS, "Association of estrogen receptor-alpha gene polymorphisms with bone mineral density in postmenopausal Korean women", J Bone Miner Metab, 23, pp.84~89 (2005)
  11. Lorentzon M, "Estrogen receptor gene polymorphism, but not estradiol levels, is related to bone density in healthy adolescent boys: a cross-sectional and longitudinal study", J Clin Endocrinol Metab, 84, pp.4597~4601 (1999)
  12. Ding SL, "Diverse associations between ESR1 polymorphism and breast cancer development and progression", Clin Cancer Res, 16, pp.3473~3484 (2010)
  13. Yaich L, "Analysis of the PvuII restriction fragment-length polymorphism and exon structure of the estrogen receptor gene in breast cancer and peripheral blood", Cancer Res, 52, pp.77~83 (1992)
  14. Schuit SC, "Height in pre- and postmenopausal women is influenced by estrogen receptor alpha gene polymorphisms", J Clin Endocrinol Metab, 89, pp.303~309 (2004)
  15. Lei SF, "Association and haplotype analyses of the COL1A2 and ER-alpha gene polymorphisms with bone size and height in Chinese", Bone, 36, pp.533~541 (2005)
  16. Stavrou I, "Combined estrogen receptor alpha and estrogen receptor beta genotypes influence the age of menarche", Hum Reprod, 21, pp.554~557 (2006)
  17. Long JR, "The oestrogen receptor alpha gene is linked and", or associated with age of menarche in different ethnic groups, 2005, pp.42, 796~800
  18. Stavrou I, "Association of polymorphisms of the oestrogen receptor alpha gene with the age of menarche", Hum Reprod, 17, pp.1101~1105 (2002)
  19. van der Eerden BC, "Systemic and local regulation of the growth plate", Endocr Rev, 24, pp.782~801 (2003)
  20. "Korean children and adolescents growth standard: commentary for the development of 2007 growth chart" (2012)[URL]
  21. Greulich WW, "Radiographic atlas of skeletal development of the hand and wrist" (1993), Stanford Univ. Press
  22. Wehkalampi K, "Patterns of inheritance of constitutional delay of growth and puberty in families of adolescent girls and boys referred to specialist pediatric care", J Clin Endocrinol Metab, 93, pp.723~728 (2008)
  23. Banerjee I, "Phenotypic variation in constitutional delay of growth and puberty: relationship to specific leptin and leptin receptor gene polymorphisms", Eur J Endocrinol, 155, pp.121~126 (2006)
  24. Lin L, "A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia", J Clin Endocrinol Metab, 91, pp.5117~5121 (2006)
  25. Sedlmeyer IL, "Determination of sequence variation and haplotype structure for the gonadotropin-releasing hormone (GnRH) and GnRH receptor genes: investigation of role in pubertal timing", J Clin Endocrinol Metab, 90, pp.1091~1099 (2005)
  26. Pugliese-Pires PN, "Novel inactivating mutations in the GH secretagogue receptor gene in patients with constitutional delay of growth and puberty", Eur J Endocrinol, 165, pp.233~241 (2011)
  27. Kauffman AS, "Sex differences in the regulation of Kiss1", NKB neurons in juvenile mice: implications for the timing of puberty, 2009, pp.297, E1212~E1221
  28. Seminara SB, "The GPR54 gene as a regulator of puberty", N Engl J Med, 349, pp.1614~1627 (2003)
  29. Tommiska J, "LIN28B in constitutional delay of growth and puberty", J Clin Endocrinol Metab, 95, pp.3063~3066 (2010)
  30. Ong KK, "Associations between the pubertal timing-related variant in LIN28B and BMI vary across the life course", J Clin Endocrinol Metab, 96, pp.E125~E129 (2011)
  31. Gajdos ZK, "Association studies of common variants in 10 hypogonadotropic hypogonadism genes with age at menarche", J Clin Endocrinol Metab, 93, pp.4290~4298 (2008)
  32. Vaaralahti K, "The role of gene defects underlying isolated hypogonadotropic hypogonadism in patients with constitutional delay of growth and puberty", Fertil Steril, 95, pp.2756~2758 (2011)
  33. Borjesson AE, "The role of estrogen receptor α in growth plate cartilage for longitudinal bone growth", J Bone Miner Res, 25, pp.2690~2700 (2010)

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