|
KMID : 1036920130180020071
|
|
Annals of Pediatric Endocrinology & Metabolism
2013 Volume.18 No. 2 p.71 ~ p.75
|
|
|
Estrogen receptor α polymorphism in boys with constitutional delay of growth and puberty
|
|
Kang Byung-Ho
Kim So-Youn
Park Mun-Suk
Yoon Kyung-Lim
Shim Kye-Shik
|
|
|
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 1 of 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
|
|
|
KEYWORD
|
|
|
Eestrogen receptor alpha, polymorphism, single nucleotide, Puberty
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|