Περίληψη:
Purpose: Studies examining association of estrogen receptor alpha (ERα) polymorphisms with early puberty are scarce and results are controversial; data in Caucasian girls are lacking. Main objective was to determine association of Xbal and Pvull polymorphisms of ERα gene in Greek girls with precocious/early puberty Methods: We studied 107 girls with idiopathic precocious/early puberty and 81 young women with pubertal maturation within normal age (controls). Pubertal stage, height SDS (HSDS), and BMI z-score were determined in patients. In controls, height was measured and menarcheal age was self-reported. All participants in the study were genotyped for XbaI and PvuII polymorphisms of the ERα gene. Results: There was no significant difference in XbaI and PvuII polymorphisms between patients and controls. Homozygous, xx and pp, girls had an earlier onset of puberty, although non-significant, than heterozygous or with no polymorphisms p = 0.9; in girls with pubertal onset <7 years, the association tended to become significant, p = 0.09. Girls with xxpp genotype were significantly taller, HSDS 1.63, p = 0.014. In controls, homozygosity for Xbal (xx) and PvuII (pp) was associated with significantly earlier menarche than in women with no polymorphism, p = 0.013 and p = 0.026, respectively, and xxpp genotype was associated with taller adult height, p = 0.017. Conclusion: XbaI and PvuII polymorphisms are not related to idiopathic precocious/early puberty. Early pubertal girls homozygous for both polymorphisms presented earlier onset of puberty, although statistically non-significant, and taller height than girls heterozygous or without these polymorphisms. Homozygosity for both polymorphisms is associated with earlier menarche and taller adult height. © 2021, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
Συγγραφείς:
Theodoropoulou, S.
Papadopoulou, A.
Karapanou, O.
Priftis, K.
Papaevangelou, V.
Papadimitriou, A.
Λέξεις-κλειδιά:
estrogen receptor alpha; follitropin, adult; Article; birth weight; body mass; breast development; case control study; child; controlled study; disease severity; DNA isolation; female; gene; gene frequency; gene linkage disequilibrium; genetic association; genetic polymorphism; genotype; homozygosity; human; major clinical study; menarche; nuclear magnetic resonance imaging; obesity; peripheral blood mononuclear cell; phenotype; polymerase chain reaction; prospective study; puberty; restriction fragment length polymorphism; school child; single nucleotide polymorphism; genetic polymorphism; genetics; precocious puberty; puberty, Adult; Estrogen Receptor alpha; Female; Genotype; Humans; Polymorphism, Genetic; Puberty; Puberty, Precocious
