Bone mineral density loci specific to the skull portray potential pleiotropic effects on craniosynostosis

Autor: Carolina Medina-Gomez, Benjamin H. Mullin, Alessandra Chesi, Vid Prijatelj, John P. Kemp, Chen Shochat-Carvalho, Katerina Trajanoska, Carol Wang, Raimo Joro, Tavia E. Evans, Katharina E. Schraut, Ruifang Li-Gao, Tarunveer S. Ahluwalia, M. Carola Zillikens, Kun Zhu, Dennis O. Mook-Kanamori, Daniel S. Evans, Maria Nethander, Maria J. Knol, Gudmar Thorleifsson, Ivana Prokic, Babette Zemel, Linda Broer, Fiona E. McGuigan, Natasja M. van Schoor, Sjur Reppe, Mikolaj A. Pawlak, Stuart H. Ralston, Nathalie van der Velde, Mattias Lorentzon, Kari Stefansson, Hieab H. H. Adams, Scott G. Wilson, M. Arfan Ikram, John P. Walsh, Timo A. Lakka, Kaare M. Gautvik, James F. Wilson, Eric S. Orwoll, Cornelia M. van Duijn, Klaus Bønnelykke, Andre G. Uitterlinden, Unnur Styrkársdóttir, Kristina E. Akesson, Timothy D. Spector, Jonathan H. Tobias, Claes Ohlsson, Janine F. Felix, Hans Bisgaard, Struan F. A. Grant, J. Brent Richards, David M. Evans, Bram van der Eerden, Jeroen van de Peppel, Cheryl Ackert-Bicknell, David Karasik, Erika Kague, Fernando Rivadeneira

Publikováno v: Communications Biology, Vol 6, Iss 1, Pp 1-12 (2023)

Abstract Skull bone mineral density (SK-BMD) provides a suitable trait for the discovery of key genes in bone biology, particularly to intramembranous ossification, not captured at other skeletal sites. We perform a genome-wide association meta-analy

Externí odkaz: https://doaj.org/article/48a29b7a20594248bc9b5e7eb32dd872

SDI-118, a novel procognitive SV2A modulator: First-in-human randomized controlled trial including PET/fMRI assessment of target engagement

Autor: Wouter Botermans, Michel Koole, Koen Van Laere, Jonathan R. Savidge, John A. Kemp, Stefan Sunaert, Maeve M. Duffy, Steven Ramael, Andrea M. Cesura, Kevin D’Ostilio, Denis Gossen, Torsten M. Madsen, Thomas Lodeweyckx, Jan de Hoon

Publikováno v: Frontiers in Pharmacology, Vol 13 (2023)

Background: Current treatments for progressive neurodegenerative disorders characterized by cognitive impairment either have limited efficacy or are lacking altogether. SDI-118 is a small molecule which modulates the activity of synaptic vesicle glyc

Externí odkaz: https://doaj.org/article/df0ee95e51f84642be55f2415ae1522e

Use of Mendelian Randomization to Examine Causal Inference in Osteoporosis

Autor: Jie Zheng, Monika Frysz, John P. Kemp, David M. Evans, George Davey Smith, Jonathan H. Tobias

Publikováno v: Frontiers in Endocrinology, Vol 10 (2019)

Epidemiological studies have identified many risk factors for osteoporosis, however it is unclear whether these observational associations reflect true causal effects, or the effects of latent confounding or reverse causality. Mendelian randomization

Externí odkaz: https://doaj.org/article/230eb86324614d5db4cdb7d3488ff4b8

A Genome‐Wide Association Study Meta‐Analysis of Alpha Angle Suggests Cam‐Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults

Autor: Benjamin G. Faber, Monika Frysz, April E. Hartley, Raja Ebsim, Cindy G. Boer, Fiona R. Saunders, Jennifer S. Gregory, Richard M. Aspden, Nicholas C. Harvey, Lorraine Southam, William Giles, Christine L. Le Maitre, J. Mark Wilkinson, Joyce B.J. van Meurs, Eleftheria Zeggini, Timothy Cootes, Claudia Lindner, John P. Kemp, George Davey Smith, Jonathan H. Tobias

Publikováno v: Faber, B G, Frysz, M, Hartley, A E, Ebsim, R, Boer, C G, Saunders, F R, Gregory, J S, Aspden, R M, Harvey, N C, Southam, L, Giles, W, Le Maitre, C L, Wilkinson, J M, van Meurs, J B J, Zeggini, E, Cootes, T, Lindner, C, Kemp, J P, Davey Smith, G & Tobias, J H 2023, ' A Genome-Wide Association Study Meta-Analysis of Alpha Angle Suggests Cam-Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults ', Arthritis & rheumatology (Hoboken, N.J.) . https://doi.org/10.1002/art.42451
Faber, B G, Frysz, M, Hartley, A E, Ebsim, R, Boer, C G, Saunders, F R, Gregory, J S, Aspden, R M, Harvey, N C, Southam, L, Giles, W, Le Maitre, C L, Wilkinson, J M, van Meurs, J B J, Zeggini, E, Cootes, T, Lindner, C, Kemp, J P, Davey Smith, G & Tobias, J H 2023, ' A Genome-Wide Association Study Meta-Analysis of Alpha Angle Suggests Cam-Type Morphology May Be a Specific Feature of Hip Osteoarthritis in Older Adults ', Arthritis and Rheumatology, vol. 75, no. 6, pp. 900-909 . https://doi.org/10.1002/art.42451
Arthritis and Rheumatology, 75(6), 900-909. John Wiley & Sons Ltd.

Objective: To examine the genetic architecture of cam morphology using alpha angle (AA) as a proxy measure and conduct an AA genome-wide association study (GWAS) followed by Mendelian randomization (MR) to evaluate its causal relationship with hip os

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9dd8b0936adf27c13378ae0983ce92e5
https://doi.org/10.1002/art.42451

Data from Genetic Variation in Prostate-Specific Antigen–Detected Prostate Cancer and the Effect of Control Selection on Genetic Association Studies

Autor: Richard M. Martin, Mark Lathrop, George Davey Smith, David E. Neal, Freddie C. Hamdy, Jenny L. Donovan, Sara Benlloch, Ali Amin Al Olama, Zsofia Kote-Jarai, Douglas F. Easton, Rosalind Eeles, John P. Kemp, David M. Evans, Duleeka W. Knipe

Background: Only a minority of the genetic components of prostate cancer risk have been explained. Some observed associations of SNPs with prostate cancer might arise from associations of these SNPs with circulating prostate-specific antigen (PSA) be

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77f98fd25d33e8c102d614ae4c9cc21f
https://doi.org/10.1158/1055-9965.c.6515488