Premium
Association of aromatase ( TTTA ) n repeat polymorphisms with central precocious puberty in girls
Author(s) -
Lee Hae Sang,
Kim Kyung Hee,
Hwang Jin Soon
Publication year - 2014
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/cen.12439
Subject(s) - allele , endocrinology , medicine , aromatase , genotype , precocious puberty , exon , biology , gene , genetics , hormone , cancer , breast cancer
Objective Precocious puberty is characterized by early activation of the pituitary‐gonadal axis. Oestrogen is the final key factor to start the onset of puberty. The cytochrome P450 19A1 ( CYP 19A1) gene encodes an aromatase that is responsible for the conversion of androgens to oestrogen, which is a key step in oestrogen biosynthesis. The aim of this study was to identify CYP 19A1 gene mutations or polymorphisms in girls with central precocious puberty ( CPP ). Methods We evaluated the frequency of allelic variants of the CYP 19A1 exons and the tetranucleotide tandem repeat ( TTTA ) n in intron 4 in 203 idiopathic central precocious puberty ( CPP ) girls and 101 normal healthy women. Results The genotype analysis of the CYP 19A1 ( TTTA ) n polymorphism revealed six different alleles ranging from seven to 13 repeats. Among the six different repeat alleles detected in this study, the ( TTTA ) 13 repeat allele was only detected in the patient group and carriers of the ( TTTA ) 13 allele were significantly associated with an increased risk of CPP ( OR = 1·509, 95% CI = 1·425–1·598, P = 0·033). Carriers of the ( TTTA ) 13 repeat allele were significantly younger at pubertal onset and had higher levels of oestrogen than noncarriers of the ( TTTA ) 13 repeat allele. Although nine polymorphisms were detected in exons of the CYP 19A1 gene, no clinical significance was observed. Conclusion In this study, carriers of a higher repeat ( TTTA ) 13 polymorphism in intron 4 of the CYP 19A1 gene had higher levels of oestrogen. Those carrying the ( TTTA ) 13 repeat allele may have a higher risk of developing CPP .