The Rotterdam Study. Design update and major findings between 2020 and 2024

MA Ikram, BCT Kieboom, WP Brouwer… - European Journal of …, 2024 - Springer
Abstract The Rotterdam Study is a population-based cohort study, started in 1990 in the
district of Ommoord in the city of Rotterdam, the Netherlands, with the aim to describe the …

Valid inference for machine learning-assisted genome-wide association studies

J Miao, Y Wu, Z Sun, X Miao, T Lu, J Zhao, Q Lu - Nature Genetics, 2024 - nature.com
Abstract Machine learning (ML) has become increasingly popular in almost all scientific
disciplines, including human genetics. Owing to challenges related to sample collection and …

Zebrafish as a Model for Osteoporosis: Functional Validations of Genome-Wide Association Studies

I Ben-Zvi, D Karasik, CL Ackert-Bicknell - Current Osteoporosis Reports, 2023 - Springer
Purpose of Review GWAS, as a largely correlational analysis, requires in vitro or in vivo
validation. Zebrafish (Danio rerio) have many advantages for studying the genetics of …

Association between inflammatory bowel disease and osteoporosis in European and East Asian populations: exploring causality, mediation by nutritional status, and …

J Kang, X Wu, Y Li, S Zhao, S Wang, D Yu - Frontiers in Immunology, 2024 - frontiersin.org
Background While previous research has established an association between inflammatory
bowel disease (IBD) and osteoporosis (OP), the nature of this association in different …

[HTML][HTML] Bone health index in the assessment of bone health: The Generation R Study

V Prijatelj, O Grgic, AG Uitterlinden, EB Wolvius… - Bone, 2024 - Elsevier
Abstract Bone Health Index (BHI) has been proposed as a useful instrument for assessing
bone health in children. However, its relationship with fracture risk remains unknown. We …

[HTML][HTML] GWAS-informed data integration and non-coding CRISPRi screen illuminate genetic etiology of bone mineral density

M Conery, JA Pippin, Y Wagley, K Trang, MC Pahl… - bioRxiv, 2024 - ncbi.nlm.nih.gov
Over 1,100 independent signals have been identified with genome-wide association studies
(GWAS) for bone mineral density (BMD), a key risk factor for mortality-increasing fragility …

GWAS of∼ 30,000 samples with bone mineral density at multiple skeletal sites and its clinical relevance on fracture prediction, genetic correlations and prioritization of …

Y Qian, J Xia, P Wang, C Xie, HL Lin, GHY Li, CD Yuan… - medRxiv, 2024 - medrxiv.org
Here, we conducted genome-wide association studies (GWAS) of dual-energy X-ray
absorptiometry (DXA)-derived bone mineral density (BMD) traits at 11 skeletal sites, within …

Valid inference for machine learning-assisted GWAS

J Miao, Y Wu, Z Sun, X Miao, T Lu, J Zhao, Q Lu - medRxiv, 2024 - medrxiv.org
Machine learning (ML) has revolutionized analytical strategies in almost all scientific
disciplines including human genetics and genomics. Due to challenges in sample collection …

The increasingly imporant role of genetics in plastic surgery

DJ Romeo, KT Oral, DF Villavisanis, JJ Ng… - Journal of Plastic …, 2024 - jprasurg.com
Genetics has played an increasingly important role in patient management over recent
decades, with innovations improving the care of diseases ranging from breast cancer to …

[HTML][HTML] Regulatory elements in SEM1-DLX5-DLX6 (7q21. 3) locus contribute to genetic control of coronal nonsyndromic craniosynostosis and bone density-related …

P Nicoletti, S Zafer, L Matok, I Irron, M Patrick… - Genetics in medicine …, 2024 - Elsevier
Purpose The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a
congenital condition defined by premature fusion of 1 or both coronal sutures, remains …