| Autor: |
Shau-Ming Wei, Michael D. Gregory, Tiffany Nash, Andrea de Abreu e Gouvêa, Carolyn B. Mervis, Katherine M. Cole, Madeline H. Garvey, J. Shane Kippenhan, Daniel P. Eisenberg, Bhaskar Kolachana, Peter J. Schmidt, Karen F. Berman |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
iScience, Vol 27, Iss 3, Pp 109113- (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2589-0042 |
| DOI: |
10.1016/j.isci.2024.109113 |
| Popis: |
Summary: Pubertal timing, including age at menarche (AAM), is a heritable trait linked to lifetime health outcomes. Here, we investigate genetic mechanisms underlying AAM by combining genome-wide association study (GWAS) data with investigations of two rare genetic conditions clinically associated with altered AAM: Williams syndrome (WS), a 7q11.23 hemideletion characterized by early puberty; and duplication of the same genes (7q11.23 Duplication syndrome [Dup7]) characterized by delayed puberty. First, we confirm that AAM-derived polygenic scores in typically developing children (TD) explain a modest amount of variance in AAM (R2 = 0.09; p = 0.04). Next, we demonstrate that 7q11.23 copy number impacts AAM (WS |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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