Altered pubertal timing in 7q11.23 copy number variations and associated genetic mechanisms.

Genetics Genotyping Human Genetics

Journal

iScience
ISSN: 2589-0042
Titre abrégé: iScience
Pays: United States
ID NLM: 101724038

Informations de publication

Date de publication:
15 Mar 2024
Historique:
received: 05 09 2023
revised: 20 11 2023
accepted: 31 01 2024
medline: 20 2 2024
pubmed: 20 2 2024
entrez: 20 2 2024
Statut: epublish

Résumé

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 (R

Identifiants

DOI: 10.1016/j.isci.2024.109113 PMID: 38375233 PMC: PMC10875153
pubmed: 38375233
doi: 10.1016/j.isci.2024.109113
pii: S2589-0042(24)00334-1
pmc: PMC10875153
doi:

Types de publication

Journal Article

Langues

eng

Pagination

109113

Déclaration de conflit d'intérêts

The authors declare no conflicts of interests.

Auteurs

Shau-Ming Wei (SM)

Behavioral Endocrinology Branch, University of Louisville, Louisville, KY, USA.
Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, University of Louisville, Louisville, KY, USA.

Michael D Gregory (MD)

Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, University of Louisville, Louisville, KY, USA.

Tiffany Nash (T)

Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, University of Louisville, Louisville, KY, USA.

Andrea de Abreu E Gouvêa (A)

Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, University of Louisville, Louisville, KY, USA.

Carolyn B Mervis (CB)

Neurodevelopmental Sciences Laboratory, Department of Psychological and Brain Sciences, University of Louisville, Louisville, KY, USA.

Katherine M Cole (KM)

Behavioral Endocrinology Branch, University of Louisville, Louisville, KY, USA.
Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, University of Louisville, Louisville, KY, USA.

Madeline H Garvey (MH)

Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, University of Louisville, Louisville, KY, USA.

J Shane Kippenhan (JS)

Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, University of Louisville, Louisville, KY, USA.

Daniel P Eisenberg (DP)

Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, University of Louisville, Louisville, KY, USA.

Bhaskar Kolachana (B)

Human Brain Collection Core, National Institute of Mental Health, Intramural Research Program, National Institutes of Health, Bethesda, MD, USA.

Peter J Schmidt (PJ)

Behavioral Endocrinology Branch, University of Louisville, Louisville, KY, USA.

Karen F Berman (KF)

Section on Integrative Neuroimaging, Clinical and Translational Neuroscience Branch, University of Louisville, Louisville, KY, USA.

Classifications MeSH