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

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

Research output: Contribution to journalArticlepeer-review


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: The objective of the study was 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, The Netherlands, and the United Kingdom) by mailed questionnaire or interview. Genome-wide variance components linkage analysis was implemented on each sample individually and in combination.

Results: The mean, SD, and heritability of AAM across the three samples was 13.1 yr, 1.5 yr, 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 (logarithm of the odds = 2.0). Three loci of suggestive significance were seen in the U. K. sample on chromosomes 1, 4, and 18 (logarithm of the odds = 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.

Original languageEnglish
Pages (from-to)3965-3970
Number of pages6
JournalJournal of Clinical Endocrinology & Metabolism
Issue number10
Publication statusPublished - Oct 2008

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