Understanding the genetic complexity of puberty timing across the allele frequency spectrum
Kentistou K, Kaisinger L, Stankovic S, Vaudel M, Mendes de Oliveira E, Messina A, Walters R, Liu X, Busch A, Helgason H, Thompson D, Santoni F, Petricek K, Zouaghi Y, Huang-Doran I, Gudbjartsson D, Bratland E, Lin K, Gardner E, Zhao Y, Jia R, Terao C, Riggan M, Bolla M, Yazdanpanah M, Yazdanpanah N, Bradfield J, Broer L, Campbell A, Chasman D, Cousminer D, Franceschini N, Franke L, Girotto G, He C, Järvelin M, Joshi P, Kamatani Y, Karlsson R, Luan J, Lunetta K, Mägi R, Mangino M, Medland S, Meisinger C, Noordam R, Nutile T, Concas M, Polašek O, Porcu E, Ring S, Sala C, Smith A, Tanaka T, van der Most P, Vitart V, Wang C, Willemsen G, Zygmunt M, Ahearn T, Andrulis I, Anton-Culver H, Antoniou A, Auer P, Barnes C, Beckmann M, Berrington de Gonzalez A, Bogdanova N, Bojesen S, Brenner H, Buring J, Canzian F, Chang-Claude J, Couch F, Cox A, Crisponi L, Czene K, Daly M, Demerath E, Dennis J, Devilee P, De Vivo I, Dörk T, Dunning A, Dwek M, Eriksson J, Fasching P, Fernandez-Rhodes L, Ferreli L, Fletcher O, Gago-Dominguez M, García-Closas M, García-Sáenz J, González-Neira A, Grallert H, Guénel P, Haiman C, Hall P, Hamann U, Hakonarson H, Hart R, Hickey M, Hooning M, Hoppe R, Hopper J, Hottenga J, Hu F, Huebner H, Hunter D, Jernström H, John E, Karasik D, Khusnutdinova E, Kristensen V, Lacey J, Lambrechts D, Launer L, Lind P, Lindblom A, Magnusson P, Mannermaa A, McCarthy M, Meitinger T, Menni C, Michailidou K, Millwood I, Milne R, Montgomery G, Nevanlinna H, Nolte I, Nyholt D, Obi N, O’Brien K, Offit K, Oldehinkel A, Ostrowski S, Palotie A, Pedersen O, Peters A, Pianigiani G, Plaseska-Karanfilska D, Pouta A, Pozarickij A, Radice P, Rennert G, Rosendaal F, Ruggiero D, Saloustros E, Sandler D, Schipf S, Schmidt C, Schmidt M, Small K, Spedicati B, Stampfer M, Stone J, Tamimi R, Teras L, Tikkanen E, Turman C, Vachon C, Wang Q, Winqvist R, Wolk A, Zemel B, Zheng W, van Dijk K, Alizadeh B, Bandinelli S, Boerwinkle E, Boomsma D, Ciullo M, Chenevix-Trench G, Cucca F, Esko T, Gieger C, Grant S, Gudnason V, Hayward C, Kolčić I, Kraft P, Lawlor D, Martin N, Nøhr E, Pedersen N, Pennell C, Ridker P, Robino A, Snieder H, Sovio U, Spector T, Stöckl D, Sudlow C, Timpson N, Toniolo D, Uitterlinden A, Ulivi S, Völzke H, Wareham N, Widen E, Wilson J, Pharoah P, Li L, Easton D, Njølstad P, Sulem P, Murabito J, Murray A, Manousaki D, Juul A, Erikstrup C, Stefansson K, Horikoshi M, Chen Z, Farooqi I, Pitteloud N, Johansson S, Day F, Perry J, Ong K. Understanding the genetic complexity of puberty timing across the allele frequency spectrum. Nature Genetics 2024, 56: 1397-1411. PMID: 38951643, PMCID: PMC11250262, DOI: 10.1038/s41588-024-01798-4.Peer-Reviewed Original ResearchConceptsAllele frequency spectrumLoss-of-function variantsDNA damage responsePolygenic riskAssociated with later health outcomesBody size dependenceGenetic analysisG protein-coupled receptorsGenetic complexityTrait varianceReproductive timingRNA sequencingDamage responseNutritional sensorsPrecocious pubertyOvarian reserveTriggering pubertyGenesHigh riskPuberty timingMenopause timingLife diseasePubertal timingWomenPubertyChildhood physical activity and pubertal timing: findings from the LEGACY girls study
Kehm R, Knight J, Houghton L, McDonald J, Schwartz L, Goldberg M, Chung W, Frost C, Wei Y, Bradbury A, Keegan T, Daly M, Buys S, Andrulis I, John E, Terry M. Childhood physical activity and pubertal timing: findings from the LEGACY girls study. International Journal Of Epidemiology 2024, 53: dyad193. PMID: 38205889, PMCID: PMC10859159, DOI: 10.1093/ije/dyad193.Peer-Reviewed Original ResearchConceptsBreast cancer family historyBody mass index-for-age z-scorePhysical activityChildhood physical activityCancer family historyLEGACY Girls StudyAssociated with later menarcheParametric survival regression modelsOrganized PAMetabolic equivalentsInverse oddsEarly childhoodSociodemographic factorsEffect modificationAssociated with ageLater menarcheNorth American cohortFamily historySurvival regression modelsStudy enrollmentMiddle childhoodAmerican cohortQuestionnaire dataPotential mediatorsZ-score
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