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This version published online on July 22, 2008
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2007-2568
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Submitted on November 20, 2007
Accepted on July 11, 2008

A genome-wide linkage scan for age-at-menarche in three populations of European descent

Carl A Anderson, Gu Zhu, Mario Falchi, Stéphanie M. van den Berg, Susan A Treloar, Timothy D Spector, Nicholas G Martin, Dorret I Boomsma, Peter M Visscher, and Grant W Montgomery*

Genetic Epidemiology and Molecular Epidemiology Laboratories, Queensland Institute of Medical Research, Brisbane, Queensland, Australia 4029; Twin Research and Genetic Epidemiology Unit, St. Thomas' Hospital, Kings College, London, UK; Department of Biological Psychology, Vrije Universiteit Amsterdam, The Netherlands; Department of Veterinary Medicine, Utrecht University, The Netherlands; Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh, Scotland EH9 3JT; Bioinformatics and Statistical Genetics, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom OX3 7BN

* To whom correspondence should be addressed. E-mail: grant.montgomery{at}qimr.edu.au.

Context: Age-at-menarche (AAM) is an important trait both biologically and socially, a clearly defined event in female pubertal development and has been associated with many clinically significant phenotypes.

Objective: To identify genetic loci influencing variation in AAM in large population-based samples from three countries.

Design/Participants: Recalled AAM data were collected from 13,697 individuals and 4,899 pseudo-independent sister-pairs from three different populations (Australia, Netherlands and UK) by mailed questionnaire or interview. Genome-wide variance components linkage analysis was implemented on each sample individually and in combination.

Results: The mean, standard deviation and heritability of AAM across the three samples was 13.1 years, 1.5 years, and 0.69 respectively. No loci were detected that reached genome-wide significance in the combined analysis, but a suggestive locus was detected on chromosome 12 (LOD = 2.0). Three loci of suggestive significance were seen in the UK sample on chromosomes 1, 4 and 18 (LOD = 2.4, 2.2 and 3.2, respectively).

Conclusions: There was no evidence for common highly penetrant variants influencing AAM. Linkage and association suggest that one trait locus for AAM is located on chromosome 12, but further studies are required to replicate these results.
Key words: Menarche • QTL • genetic linkage • IGF1






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