title: Genome-wide association studies of age at menarche and age at natural menopause.
abstract: Genome-wide association studies (GWAS) have been successful in uncovering genetic determinants of age at menarche and age at natural menopause. To date, more than 30 novel genetic loci have been identified in GWAS for age at menarche and 17 for age at natural menopause. These findings have stimulated a plethora of follow-up studies particularly with respect to the functional characterization of these novel loci and how these results can be translated into risk prediction. However, the genetic loci identified so far account for only a small fraction of the overall heritability. This review provides an overview of the current state of our knowledge of the genetic basis of menarche and menopause timing. It emphasizes recent GWAS results and outlines strategies for discovering the missing heritability and strategies to further our understanding of the underlying molecular mechanisms of the observed genetic associations.
authors.affiliation: Department of Public Health, Indiana University School of Medicine, 980 West Walnut Street, R3-C241, Indianapolis, IN 46202, USA; Melvin and Bren Simon Cancer Center, Indiana University, 535 Barnhill Drive, Indianapolis, IN 46202, USA. Electronic address: chunhe@iupui.edu.
authors.forename: Chunyan
authors.initials: C
authors.lastname: He
authors.affiliation: The National Heart Lung and Blood Institute's Framingham Heart Study, 73 Mount Wayte, Suite 2, Framingham, MA 01701, USA; Section of General Internal Medicine, Department of Medicine, Boston University School of Medicine, 720 East Concord Street, Boston, MA 02118, USA. Electronic address: murabito@bu.edu.
authors.forename: Joanne M
authors.initials: JM
authors.lastname: Murabito
mesh_terms: D000367:Age Factors; D000375:Aging / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D055106:Genome-Wide Association Study; D006801:Humans; D008572:Menarche / Q000235:genetics*; D008593:Menopause / Q000235:genetics*