Analysis of the PvuII and XbaI polymorphisms in the estrogen receptor alpha gene in girls with central precocious puberty: a pilot study.
BMC Med Genet
; 19(1): 84, 2018 05 25.
Article
en En
| MEDLINE
| ID: mdl-29801469
ABSTRACT
BACKGROUND:
Precocious puberty (PP) is defined as premature pubertal development. Its consequences surpass the physical evidence of sexual maturity with the premature epiphyseal closure of the long bones and the reduction of adult stature by varied degrees. Central PP is characteristically dependent on GnRH and most of its causes are not completely known. Altered estrogen action is also believed to be involved in the genesis of PP. In fact, estrogen receptor alpha (Rea) gene polymorphisms may be associated with early age at menarche. The objective of this study was to investigate the relationship between Reα gene polymorphisms (PvuII and XbaI) and the occurrence of central PP.METHODS:
A total of 73 girls with central PP and 101 girls with normal pubertal maturation were evaluated. Both groups were genotyped for the PvuII (T/C) and XbaI (A/G) polymorphisms in the Reα gene.RESULTS:
The frequency distribution of the XbaI (p = 0.28) and of the PvuII (p = 0.12) genotypes, as well as the XbaI and PvuII allelic variants (p = 0.23 and p = 0.86, respectively), did not differ between the groups.CONCLUSION:
The PvuII and XbaI Rea gene polymorphisms do not appear to be related to development of central PP.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Pubertad Precoz
/
Polimorfismo de Longitud del Fragmento de Restricción
/
Receptor alfa de Estrógeno
Tipo de estudio:
Observational_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
Idioma:
En
Revista:
BMC Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2018
Tipo del documento:
Article
País de afiliación:
Brasil