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Understanding the genetic complexity of puberty timing across the allele frequency spectrum

A multi-ancestry genome-wide association study for age at menarche followed by fine mapping and downstream analysis implicates 665 pubertal timing genes, such as the G-protein-coupled receptor 83 (GPR83) and other genes expressed in the ovaries involved in the DNA damage response.

Katherine A. Kentistou
Lena R. Kaisinger
Ken K. Ong
ResearchOpen Access01 Jul 2024
Nature Genetics

Volume: 56, P: 1397-1411
Genome-wide association analyses of physical activity and sedentary behavior provide insights into underlying mechanisms and roles in disease prevention

Multi-ancestry meta-analyses of genome-wide association studies for self-reported physical activity during leisure time, leisure screen time, sedentary commuting and sedentary behavior at work identify 99 loci associated with at least one of these traits.

Zhe Wang
Andrew Emmerich
Marcel den Hoed
ResearchOpen Access07 Sept 2022
Nature Genetics

Volume: 54, P: 1332-1344
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

John Perry, Ken Ong and colleagues analyze genotype data on ∼370,000 women and identify 389 independent signals that associate with age at menarche, implicating ∼250 genes. Their analyses suggest causal inverse associations, independent of BMI, between puberty timing and risks for breast and endometrial cancers in women and prostate cancer in men.

Felix R Day
Deborah J Thompson
John R B Perry
Research24 Apr 2017
Nature Genetics

Volume: 49, P: 834-841
Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data

Analysis of whole-genome sequences of 25,465 individuals of European ancestry shows that rare variants contribute substantially to the heritability of height and body mass index.

Pierrick Wainschtein
Deepti Jain
Peter M. Visscher
Research07 Mar 2022
Nature Genetics

Volume: 54, P: 263-273
Genetic analyses of diverse populations improves discovery for complex traits

Genetic analyses of ancestrally diverse populations show evidence of heterogeneity across ancestries and provide insights into clinical implications, highlighting the importance of including ancestrally diverse populations to maximize genetic discovery and reduce health disparities.

Genevieve L. Wojcik
Mariaelisa Graff
Christopher S. Carlson
Research19 Jun 2019
Nature

Volume: 570, P: 514-518
Engaging migrants and immigrants in genetics research

This Perspective examines the challenges to equitable participation of migrants and immigrants in genetics research and proposes inclusive, community-driven approaches to advance scientific discovery and overcome health disparities.

Mariana Valdez-Aguilar
Jamie L. Conklin
Dawit Shawel Abebe
Reviews31 Oct 2025
Nature Genetics

Volume: 57, P: 2634-2643
Publisher Correction: Understanding the genetic complexity of puberty timing across the allele frequency spectrum

Katherine A. Kentistou
Lena R. Kaisinger
Ken K. Ong
Amendments and CorrectionsOpen Access09 Jul 2024
Nature Genetics

Volume: 56, P: 1763-1764
Generalization of adiposity genetic loci to US Hispanic women

M Graff
L Fernández-Rhodes
K E North
ResearchOpen Access26 Aug 2013
Nutrition & Diabetes

Volume: 3, P: e85
Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations

S Yoneyama
J Yao
K E North
Research21 Nov 2016
International Journal of Obesity

Volume: 41, P: 324-331
Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI

J Gong
K K Nishimura
U Peters
Research21 Dec 2017
International Journal of Obesity

Volume: 42, P: 384-390

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