Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche
Autor: | Mads Melbye, Peter Alexandersen, Elinborg J Olafsdottir, Unnur Thorsteinsdottir, André L. M. Verbeek, Margret Jakobsdottir, Daniel F. Gudbjartsson, Gudridur H Olafsdottir, Nel Roeleveld, Laufey Tryggvadottir, Valgerdur Steinthorsdottir, Heather A. Boyd, Aslaug Jonasdottir, Lambertus A. Kiemeney, Thorunn Rafnar, Unnur Styrkarsdottir, Thorvaldur Jonsson, Hilma Holm, Augustine Kong, Katja K.H. Aben, Ari Karason, Patrick Sulem, Jeffrey R. Gulcher, Julius Gudmundsson, Gudmundur A. Hardarson, Simon N. Stacey, Claus Christiansen, Kari Stefansson, Gudmar Thorleifsson, Bjarke Feenstra |
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Rok vydání: | 2009 |
Předmět: |
medicine.medical_specialty
Linkage disequilibrium Hereditary cancer and cancer-related syndromes [ONCOL 1] Haplotype Genome-wide association study Aetiology screening and detection [ONCOL 5] Biology Molecular epidemiology [NCEBP 1] Endocrinology Translational research [ONCOL 3] Polymorphism (computer science) Internal medicine parasitic diseases Genetic variation Genetics medicine Menarche Allele Body mass index |
Zdroj: | Nature Genetics, 41, 6, pp. 734-738 Nature Genetics, 41, 734-738 |
ISSN: | 1546-1718 1061-4036 |
DOI: | 10.1038/ng.383 |
Popis: | Earlier menarche correlates with shorter adult height and higher childhood body fat. We conducted a genome-wide association study of age at menarche (AAM) on 15,297 Icelandic women. Combined analysis with replication sets from Iceland, Denmark and the Netherlands (N = 10,040) yielded a significant association between rs314280[T] on 6q21, near the LIN28B gene, and AAM (effect = 1.2 months later per allele; P = 1.8 × 10(-14)). A second SNP within the same linkage disequilibrium (LD) block, rs314277, splits rs314280[T] into two haplotypes with different effects (0.9 months and 1.9 months per allele). These variants have been associated with greater adult height. The association with adult height did not account for the association with AAM or vice versa. Other variants, previously associated with height, did not associate significantly with AAM. Given the link between body fat and AAM, we also assessed 11 variants recently associated with higher body mass index (BMI) and 5 of those associated with earlier AAM. |
Databáze: | OpenAIRE |
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