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Hum. Reprod. Advance Access published online on March 21, 2007
Human Reproduction, doi:10.1093/humrep/dem052
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© The Author 2007. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Polymorphism in the insulin-like growth factor 1 gene is associated with age at menarche in caucasian females

Jian Zhao1,*, Dong-Hai Xiong2,*, Yan Guo1,*, Tie-Lin Yang1, Robert R Recker2 and Hong-Wen Deng1,2,3,4

1 The Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an 710049, People's Republic of China 2 Osteoporosis Research Center and Department of Biomedical Sciences, Creighton University, Omaha, NE 68131, USA 3 Department of Orthopedic Surgery, School of Medicine, University of Missouri-Kansas City, 2411 Holmes Street, Kansas City, MO 64108, USA

4 To whom correspondence should be addressed at: School of Medicine, Department of Basic Medical Science, University of Missouri/Kansas City, Room: M3-CO3, 2411 Holmes Street, Kansas City, MO 64108-2792, USA. Tel: +816-235-5354, Fax: +816-235-6517, E-mail: dengh{at}umkc.edu

BACKGROUND: The insulin-like growth factor 1 (IGF1) gene, which plays a crucial role in hypothalamic–pituitary–ovarian hormone-controlled metabolic processes, may influence the onset of menarche. Our study aimed to test association between IGF1 polymorphisms with the variation of age at menarche (AAM) in Caucasian females.

METHODS: We recruited a sample of 1048 females from 354 Caucasian nuclear families and genotyped 19 single-nucleotide polymorphisms (SNPs) spanning the entire IGF1 gene. Pairwise linkage disequilibrium among SNPs was measured, and the haplotype blocks were inferred. Both single SNP markers and haplotypes were tested for association with AAM using the quantitative transmission disequilibrium test.

RESULTS: Significant association (P = 0.0153) between AAM and SNP3 (rs6214) in block1 was detected.

CONCLUSIONS: Our results suggested a potential effect of SNP3 in the IGF1 gene on AAM variation in Caucasian women for the first time. However, further independent studies are needed to confirm our findings.

Key words: association/insulin-like growth factor 1/age at menarche/haplotype

* These authors contributed equally to this work.

Submitted on August 10, 2006; resubmitted on October 27, 2006; resubmitted on December 22, 2006; accepted on January 2, 2007.


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