Polymorphisms of estrogen-biosynthesis genes CYP17 and CYP19 may influence age at menarche

A genetic association study in Caucasian females

Yan Guo, Dong Hai Xiong, Tie Lin Yang, Yan Fang Guo, Robert R. Recker, Hong Wen Deng

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Variation in age at menarche (AAM) is known to be substantially influenced by genetic factors, but the true causal genes remain largely unidentified. Because the increased amplitude of estrogen exposure of tissues initiates the onset of menarche, the genes involved in estrogen biosynthesis are natural candidate genes underlying AAM. Our study aimed to identify whether the CYP17 and CYP19, the two key genes involved in the biosynthesis of estrogen, are associated with AAM variation in 1048 females from 354 Caucasian nuclear families. We genotyped 38 SNPs and established the linkage disequilibrium blocks and haplotype structures that covered the full transcript length of those two genes. Family-based and population-based statistical analyses were used to test for associations with all of the single SNPs and haplotypes. Both methods consistently detected significant associations for five SNPs of CYP19 with AAM. Haplotype analyses corroborated our single-SNP results by showing that the haplotypes in block 1 were highly significant to AAM in population-based analyses. However, we could not find any association of CYP17 with AAM. Our study is the first to suggest the important effect of CYP19 on AAM variation in Caucasian females. It will be valuable to replicate and confirm these findings in other independent studies, aiming at eventually finding the hidden genetic mechanisms underlying the variation in AAM.

Original languageEnglish
Pages (from-to)2401-2408
Number of pages8
JournalHuman Molecular Genetics
Volume15
Issue number16
DOIs
StatePublished - Aug 15 2006

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Steroid 17-alpha-Hydroxylase
Menarche
Aromatase
Genetic Association Studies
Estrogens
Genes
Haplotypes
Single Nucleotide Polymorphism
Linkage Disequilibrium
Nuclear Family
Population

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Polymorphisms of estrogen-biosynthesis genes CYP17 and CYP19 may influence age at menarche : A genetic association study in Caucasian females. / Guo, Yan; Xiong, Dong Hai; Yang, Tie Lin; Guo, Yan Fang; Recker, Robert R.; Deng, Hong Wen.

In: Human Molecular Genetics, Vol. 15, No. 16, 15.08.2006, p. 2401-2408.

Research output: Contribution to journalArticle

Guo, Yan ; Xiong, Dong Hai ; Yang, Tie Lin ; Guo, Yan Fang ; Recker, Robert R. ; Deng, Hong Wen. / Polymorphisms of estrogen-biosynthesis genes CYP17 and CYP19 may influence age at menarche : A genetic association study in Caucasian females. In: Human Molecular Genetics. 2006 ; Vol. 15, No. 16. pp. 2401-2408.
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