Affiliations: Institute of Molecular Genetics, School of Life
Science and Technology, Xi'an Jiaotong University, Xi'an, P.R. China | School of Medicine, University of Missouri-Kansas
City, Kansas City, USA | Laboratory of Molecular and Statistical Genetics,
College of Life Sciences, Hunan Normal University, Changsha, Hunan, P.R.
China | School of Biological Sciences, University of Hong
Kong, Hong Kong SAR, P.R. China
Note: [] Corresponding author: Volodymyr Dvornyk, Ph.D., School of
Biological Sciences, University of Hong Kong, Pokfulam Rd., Hong Kong SAR, P.R.
China. Tel.: +852 22990611; Fax: +852 25599114; E-mail: [email protected]
Abstract: Objective: Literature data on the effects of CYP17 MspA1
polymorphism on age at menarche (AAM) are inconsistent. To reexamine this
controversy, we performed a meta-analysis. Study design: In total 16 studies containing more than 11000
individuals of various ethnicities were selected for the analyses. For 11
case-control studies, odds ratio (OR) was employed to evaluate the risk of late
AAM for each study, using homozygote at the wild-type allele as a control
group. For the 5 studies with continuous outcomes, the effect size was
estimated using the Hedges' adjusted g, which is calculated based on the
standardized mean difference between groups of subjects with early and late
AAM. Results: We did not find evidence for association of the
MspA1 polymorphism with AAM in the combined case-control sample with mixed
ethnic background (OR = 1.03, 95% CI: 0.90–1.18, P = 0.66), in the
monoethnic case-control sample of Caucasian females (OR = 1.09, 95% CI:
0.99–1.20, P = 0.08) and in the combined sample with continuous traits
(Hedges' g = 0.33 and −0.041, 95% CI: −0.14–0.80 and −0.18–0.10,
P values 0.17 and 0.56 for the pooled population sample and monoethnic sample
of Caucasian females, respectively). Conclusion: Our study showed that CYP17 MspA1
polymorphism was not a significant independent risk factor of AAM. Further
studies are needed to clarify the effects of the interaction between this gene
and other genetic and/or environment factors on AAM.
Keywords: Age at menarche, CYP17, meta-analysis, publication bias
