Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk

FR Day, DJ Thompson, H Helgason, DI Chasman… - Nature …, 2017 - nature.com
The timing of puberty is a highly polygenic childhood trait that is epidemiologically
associated with various adult diseases. Using 1000 Genomes Project–imputed genotype …

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

JRB Perry, F Day, CE Elks, P Sulem, DJ Thompson… - Nature, 2014 - nature.com
Age at menarche is a marker of timing of puberty in females. It varies widely between
individuals, is a heritable trait and is associated with risks for obesity, type 2 diabetes …

[HTML][HTML] Understanding the genetic complexity of puberty timing across the allele frequency spectrum

KA Kentistou, LR Kaisinger, S Stankovic, M Vaudel… - Nature …, 2024 - nature.com
Pubertal timing varies considerably and is associated with later health outcomes. We
performed multi-ancestry genetic analyses on~ 800,000 women, identifying 1,080 signals for …

Genome-wide association studies identify loci associated with age at menarche and age at natural menopause

C He, P Kraft, C Chen, JE Buring, G Paré… - Nature …, 2009 - nature.com
Age at menarche and age at natural menopause are associated with causes of substantial
morbidity and mortality such as breast cancer and cardiovascular disease. We conducted a …

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty

DL Cousminer, E Stergiakouli, DJ Berry… - Human molecular …, 2014 - academic.oup.com
Little is known about genes regulating male puberty. Further, while many identified pubertal
timing variants associate with age at menarche, a late manifestation of puberty, and body …

Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

B Hollis, FR Day, AS Busch, DJ Thompson… - Nature …, 2020 - nature.com
The timing of puberty is highly variable and is associated with long-term health outcomes. To
date, understanding of the genetic control of puberty timing is based largely on studies in …

Meta-analysis of genome-wide association data identifies two loci influencing age at menarche

JRB Perry, L Stolk, N Franceschini, KL Lunetta, G Zhai… - Nature …, 2009 - nature.com
We conducted a meta-analysis of genome-wide association data to detect genes influencing
age at menarche in 17,510 women. The strongest signal was at 9q31. 2 (P= 1.7× 10− 9) …

Genetic variation in LIN28B is associated with the timing of puberty

KK Ong, CE Elks, S Li, JH Zhao, J Luan, LB Andersen… - Nature …, 2009 - nature.com
The timing of puberty is highly variable. We carried out a genome-wide association study for
age at menarche in 4,714 women and report an association in LIN28B on chromosome 6 …

Genome-wide association and longitudinal analyses reveal genetic loci linking pubertal height growth, pubertal timing and childhood adiposity

DL Cousminer, DJ Berry, NJ Timpson… - Human molecular …, 2013 - academic.oup.com
The pubertal height growth spurt is a distinctive feature of childhood growth reflecting both
the central onset of puberty and local growth factors. Although little is known about the …

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

FR Day, KS Ruth, DJ Thompson, KL Lunetta… - Nature …, 2015 - nature.com
Menopause timing has a substantial impact on infertility and risk of disease, including breast
cancer, but the underlying mechanisms are poorly understood. We report a dual strategy …