Review
Biochemistry & Molecular Biology
Panagiotis Anagnostis, Matilda Florentin, Sarantis Livadas, Irene Lambrinoudaki, Dimitrios G. Goulis
Summary: Dyslipidemia, especially elevated total and low-density lipoprotein cholesterol concentrations, is associated with low bone mass and increased fracture risk, possibly due to increased oxidative stress and systemic inflammation caused by dyslipidemia leading to increased osteoclastic activity and reduced bone formation.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Endocrinology & Metabolism
Laura Carbone, Petra Buzkova, Howard A. Fink, John A. Robbins, Joshua Barzilay, Rachel E. Elam, Carlos Isales, Margery A. Connelly, Kenneth J. Mukamal
Summary: This study aimed to explore the relationship between branched chain amino acids (BCAA) and hip fractures and bone mineral density (BMD) in older individuals. After 12 years of follow-up, no significant association was found between BCAA concentrations and hip fracture risk. However, leucine concentrations were positively correlated with BMD in the hip and femoral neck. Further research is needed to determine whether BCAAs could be novel targets for osteoporosis therapies.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Geriatrics & Gerontology
Irene Zolfaroli, Ester Ortiz, Miguel-Angel Garcia-Perez, Juan Jose Hidalgo-Mora, Juan J. Tarin, Antonio Cano
Summary: This study found a positive association between high-density lipoprotein cholesterol (HDL-C) levels and bone mineral density (BMD) at the lumbar spine and femoral neck in postmenopausal women, while other lipid parameters did not show significant associations. Additionally, factors such as age and body mass index were also related to BMD.
Article
Environmental Sciences
Dongsheng Di, Tiaeki Tooki, Haolong Zhou, Zhangbo Cui, Ruyi Zhang, Jian-li Zhang, Tingting Yuan, Qian Liu, Tingting Zhou, Xiao Luo, Danyang Ling, Qi Wang
Summary: The pathophysiology of osteoporosis is affected by exposure to harmful metals and inadequate intake of necessary metals. Investigating plasma metals and metabolites in older adults can provide insight into the mechanisms of metal toxicity on bone mass. The study found that exposure to metal mixtures was associated with decreased OP risk and bone mineral density. Certain metabolites mediated the relationship between metal mixtures, OP risk, and bone effects. These findings contribute to our understanding of the connection between metal exposure and osteoporosis.
ECOTOXICOLOGY AND ENVIRONMENTAL SAFETY
(2023)
Review
Cardiac & Cardiovascular Systems
Dinesh K. Kalra, Mounica Vorla, Erin D. Michos, Anandita Agarwala, Salim Virani, Bart Duell, Frederick J. Raal
Summary: With the improvement of antiretroviral therapy, the life expectancy of people living with HIV has increased, but cardiovascular disease has become a major cause of morbidity and mortality in this aging population. Therefore, it is crucial to assess and treat cardiovascular disease risk factors, including dyslipidemia, in this population. However, there is limited evidence regarding the pathogenesis and management of dyslipidemia in people living with HIV.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
(2023)
Article
Multidisciplinary Sciences
V. V. Visconti, B. Gasperini, C. Greggi, B. Battistini, A. Messina, M. Renzi, K. Bakhtafrouz, R. Iundusi, A. Botta, L. Palombi, U. Tarantino
Summary: Heavy metal levels are associated with low bone mineral density and osteoporosis risk, possibly due to altered expression patterns of detoxifying genes. This study analyzes heavy metal levels and detoxifying gene expression in osteoporotic patients compared to healthy subjects. The results show increased levels of copper, mercury, molybdenum, and lead in osteoporotic patients, along with decreased expression of detoxifying genes. This study suggests a novel aspect to investigate the role of metals in the development of osteoporosis.
SCIENTIFIC REPORTS
(2023)
Article
Nutrition & Dietetics
Raul Roncero-Martin, Ignacio Aliaga, Jose M. Moran, Luis M. Puerto-Parejo, Purificacion Rey-Sanchez, Maria de la Luz Canal-Macias, Antonio Sanchez-Fernandez, Juan D. Pedrera-Zamorano, Fidel Lopez-Espuela, Vicente Vera, Purificacion Cerrato-Carretero, Jesus M. Lavado-Garcia
Summary: The study found a significant positive association between plasma n-3 polyunsaturated fatty acid levels and bone density in Spanish postmenopausal women, independent of BMI and total plasma n-3 PUFAs.
Article
Nutrition & Dietetics
Ru-Lan Hsieh, Ya-Li Huang, Wei-Jen Chen, Hsi-Hsien Chen, Horng-Sheng Shiue, Ying-Chin Lin, Yu-Mei Hsueh
Summary: This study investigated the modifying effect of plasma folate and vitamin B-12 levels on the association between blood lead, cadmium, total urinary arsenic levels, and bone loss. The findings suggest that high blood lead and total urinary arsenic levels are positively correlated with bone loss, while plasma folate and vitamin B-12 levels alone do not show a direct correlation with bone loss. However, in individuals with low plasma folate and vitamin B-12 levels, high blood lead concentrations may increase the risk of bone loss.
Article
Nutrition & Dietetics
Alexandra K. Calor, Dana F. J. Yumani, Mirjam M. van Weissenbruch
Summary: The research indicates that fat intake in the first postnatal weeks is positively associated with BMC and BMD at term corrected age, while protein and fat intake in the early weeks of life can predict BMD at six months corrected age. These findings suggest that early nutritional intervention is crucial for bone health in the first months of life.
Article
Sport Sciences
Philip D. Chilibeck, Darren G. Candow, Julianne J. Gordon, Whitney R. D. Duff, Riley Mason, Keely Shaw, Regina Taylor-Gjevre, Bindu Nair, Gordon A. Zello
Summary: Two years of creatine supplementation and exercise had no effect on bone mineral density in postmenopausal women, but improved some bone geometric properties at the proximal femur.
MEDICINE & SCIENCE IN SPORTS & EXERCISE
(2023)
Article
Biochemistry & Molecular Biology
Ewa Jowko, Barbara Dlugolecka, Igor Cieslinski, Jadwiga Kotowska
Summary: The aim of this study was to identify relevant factors that affect bone mineral content (BMC) and bone mineral density (BMD) in young, healthy men reaching peak bone mass. The results showed that age, BMI, engaging in combat and team sports at a competitive level, and certain genetic polymorphisms were significant predictors of BMD/BMC at different skeletal sites. Specifically, the SOD2 AG genotype was associated with lower BMC values, while the VDR FokI GG genotype was associated with lower BMD. However, the CALCR AG genotype was linked to higher arm BMD. These findings suggest that sports training may mitigate the negative impact of genetic factors on bone tissue and reduce the risk of osteoporosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Acoustics
Ali H. Alomari, Saeed M. Al-Qahtani, Christian M. Langton
Summary: The study proposed a novel method based on ultrasound transit time spectroscopy to derive volumetric and areal bone mineral densities. Results obtained by ultrasound showed high correlations with those obtained by microcomputed tomography when measuring bone density.
Review
Endocrinology & Metabolism
Y. Zhang, Z. Tian, S. Ye, Q. Mu, X. Wang, S. Ren, X. Hou, W. Yu, J. Guo
Summary: The study found that individuals with Down syndrome have significantly lower bone mineral density in total body and different regions (hip, lumbar spine, and femoral neck) compared to controls. It also showed a decreasing trend in lumbar spine volumetric bone mineral density and an elevated femoral neck volumetric bone mineral density in Down syndrome individuals versus controls.
OSTEOPOROSIS INTERNATIONAL
(2022)
Article
Endocrinology & Metabolism
Jihan Wang, Yangyang Wang, Yuhong Zeng, Dageng Huang
Summary: This study analyzed the metabolic profile of postmenopausal women with osteoporosis (PMOP) and identified novel metabolites associated with bone mineral density (BMD). Unsupervised metabolomics analysis revealed 68 differential abundant metabolites (DAMs) in PMOP samples, most of which showed decreased relative abundances. Correlation analysis further revealed that certain metabolites were significantly positively correlated with BMD. These findings are important for the diagnosis, therapy, and prevention of PMOP.
Article
Nutrition & Dietetics
Xuemei Liao, Shanshan Chen, Mengyang Su, Xuanrui Zhang, Yuanhuan Wei, Shujun Liang, Qinzhi Wei, Zheqing Zhang
Summary: This study investigated the relationship between dietary patterns and bone health in school-age children in China. The fruit-milk-eggs dietary pattern was positively associated with bone mineral content, while the animal organs-refined cereals pattern was negatively associated with bone mineral content and bone mineral density.
Article
Cardiac & Cardiovascular Systems
Mads Harslof, Kasper M. Pedersen, Shoaib Afzal, George Davey Smith, Borge G. Nordestgaard
Summary: This study used NMR spectroscopy to measure HDL particle counts in 30,195 Danish individuals and further subdivided them according to particle size. The study found that a decrease in the number of small and medium HDL particles was associated with an increased incidence and mortality of infectious diseases. This suggests that low levels of HDL cholesterol may affect the risk of infectious diseases.
CARDIOVASCULAR RESEARCH
(2023)
Article
Public, Environmental & Occupational Health
Fernando Pires Hartwig, Linbo Wang, George Davey Smith, Neil Martin Davies
Summary: Instrumental variables (IVs) can be used to determine the causal effect of a treatment X on an outcome Y. Further assumptions, such as homogeneity in the causal effect of X on Y and no effect modification, are needed to identify the average causal effect (ACE) of X on Y. The assumption of no simultaneous heterogeneity is sufficient for identifying the ACE using IVs, even if other assumptions are violated.
Article
Medicine, General & Internal
Si M. Fang, James Yarmolinsky, Dipender R. Gill, Caroline G. Bull, Claire Perks, George Davey Smith, Tom Gaunt, Tom Richardson
Summary: This study used drug target Mendelian randomisation (MR) analysis to evaluate the impact of drug targets associated with low-density lipoprotein cholesterol (LDL-c) lowering therapies on the risk of prostate cancer (PrCa). The findings suggest that genetically proxied inhibition of PCSK9 is associated with a lower risk of total and early-onset PrCa, potentially through the regulation of Lp(a).
Article
Genetics & Heredity
Zornitza Stark, Tiffany Boughtwood, Matilda Haas, Jeffrey Braithwaite, Clara L. Gaff, Ilias Goranitis, Amanda B. Spurdle, David P. Hansen, Oliver Hofmann, Nigel Laing, Sylvia Metcalfe, Ainsley J. Newson, Hamish S. Scott, Natalie Thorne, Robyn L. Ward, Marcel E. Dinger, Stephanie Best, Janet C. Long, Sean M. Grimmond, John Pearson, Nicola Waddell, Christopher P. Barnett, Matthew Cook, Michael Field, David Fielding, Stephen B. Fox, Jozef Gecz, Adam Jaffe, Richard J. Leventer, Paul J. Lockhart, Sebastian Lunke, Andrew J. Mallett, Julie McGaughran, Linda Mileshkin, Katia Nones, Tony Roscioli, Ingrid E. Scheffer, Christopher Semsarian, Cas Simons, David M. Thomas, David R. Thorburn, Richard Tothill, Deborah White, Sally Dunwoodie, Peter T. Simpson, Peta Phillips, Marie-Jo Brion, Keri Finlay, Michael CJ. Quinn, Tessa Mattiske, Emma Tudini, Kirsten Boggs, Sean Murray, Kathy Wells, John Cannings, Andrew H. Sinclair, John Christodoulou, Kathryn N. North
Summary: Australian Genomics is a national collaborative partnership that aims to integrate genomics into healthcare through a whole-of-system approach. It has evaluated genomic testing outcomes in over 5,200 individuals across rare disease and cancer studies and provided evidence-based changes in policy and practice, resulting in government funding and access to genomic tests. It has also developed national skills, infrastructure, policy, and data resources to support data sharing and improve clinical genomic delivery.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Public, Environmental & Occupational Health
Grace Marion Power, Jonathan H. Tobias, Timothy M. Frayling, Jessica Tyrrell, April E. Hartley, Jon E. Heron, George Davey Smith, Tom G. Richardson
Summary: Using a lifecourse Mendelian randomisation approach, this study investigated the influence of body size on fracture risk. The results showed that larger body size in childhood reduces fracture risk, while larger body size in adulthood increases fracture risk.
EUROPEAN JOURNAL OF EPIDEMIOLOGY
(2023)
Article
Psychology, Biological
Iain Mathieson, Felix R. Day, Nicola Barban, Felix C. Tropf, David M. Brazel, Ahmad Vaez, Natalie van Zuydam, Barbara D. Bitarello, Eugene J. Gardner, Evelina T. Akimova, Ajuna Azad, Sven Bergmann, Lawrence F. Bielak, Dorret Boomsma, Kristina Bosak, Marco Brumat, Julie E. Buring, David Cesarini, Daniel Chasman, Jorge E. Chavarro, Massimiliano Cocca, Maria Pina Concas, George Davey Smith, Gail Davies, Ian J. Deary, Tonu Esko, Jessica D. Faul, Oscar Franco, Andrea Ganna, Audrey J. Gaskins, Andrea Gelemanovic, Eco J. C. de Geus, Christian Gieger, Giorgia Girotto, Bamini Gopinath, Hans Joergen Grabe, Erica P. Gunderson, Caroline Hayward, Chunyan He, Diana van Heemst, W. David Hill, Eva R. Hoffmann, Georg Homuth, Jouke Jan Hottenga, Hongyang Huang, Elina Hyppoenen, M. Arfan Ikram, Rick Jansen, Magnus Johannesson, Zoha Kamali, Sharon L. R. Kardia, Maryam Kavousi, Annette Kifley, Tuomo Kiiskinen, Peter Kraft, Brigitte Kuehnel, Claudia Langenberg, Gerald Liew, Penelope A. Lind, Jian'an Luan, Reedik Magi, Patrik K. E. Magnusson, Anubha Mahajan, Nicholas G. Martin, Hamdi Mbarek, Mark McCarthy, George McMahon, Sarah E. Medland, Thomas Meitinger, Andres Metspalu, Evelin Mihailov, Lili Milani, Stacey A. Missmer, Paul Mitchell, Stine Mollegaard, Dennis O. Mook-Kanamori, Anna Morgan, Peter van der Most, Renee de Mutsert, Matthias Nauck, Ilja M. Nolte, Raymond Noordam, Brenda W. J. H. Penninx, Annette Peters, Patricia A. Peyser, Ozren Polasek, Chris Power, Ajka Pribisalic, Paul Redmond, Janet W. Rich-Edwards, Paul M. Ridker, Cornelius A. Rietveld, Susan M. Ring, Lynda M. Rose, Rico Rueedi, Vallari Shukla, Jennifer A. Smith, Stasa Stankovic, Kari Stefansson, Doris Stoeckl, Konstantin Strauch, Morris A. Swertz, Alexander Teumer, Gudmar Thorleifsson, Unnur Thorsteinsdottir, A. Roy Thurik, Nicholas J. Timpson, Constance Turman, Andre G. Uitterlinden, Melanie Waldenberger, Nicholas J. Wareham, David R. Weir, Gonneke Willemsen, Jing Hau Zhao, Wei Zhao, Yajie Zhao, Harold Snieder, Marcel den Hoed, Ken K. Ong, Melinda C. Mills, John R. B. Perry
Summary: Identifying genetic determinants of reproductive success can reveal the mechanisms underlying fertility and identify genes that are currently under natural selection. A genome-wide association study on individuals of European ancestry identified 43 genomic loci associated with the number of children ever born or childlessness. These loci are involved in various aspects of reproductive biology, such as puberty timing, age at first birth, sex hormone regulation, endometriosis, and age at menopause. Additionally, missense variants in ARHGAP27 were found to be associated with higher number of children ever born but shorter reproductive lifespan, suggesting a trade-off at this locus. Other genes, including PIK3IP1, ZFP82, and LRP4, were also implicated by coding variants, and a new role for the melanocortin 1 receptor (MC1R) in reproductive biology was suggested. Furthermore, integration with data from historical selection scans revealed an allele in the FADS1/2 gene locus that has been undergoing selection for thousands of years. These findings highlight the diverse biological mechanisms contributing to reproductive success.
NATURE HUMAN BEHAVIOUR
(2023)
Article
Multidisciplinary Sciences
Miranda Rogers, Dipender Gill, Emma Ahlqvist, Tim Robinson, Daniela Mariosa, Mattias Johansson, Ricardo Cortez Cardoso Penha, Laure Dossus, Marc J. Gunter, Victor Moreno, George Davey Smith, Richard M. Martin, James Yarmolinsky
Summary: Preclinical and genetic studies show that impaired GIPR signaling increases glycemic control difficulties and its relationship with cancer risk influenced by impaired glucose homeostasis is unclear. This study examines a variant in GIPR, rs1800437 (E354Q), which impairs long-term GIPR signaling, and its association with the risk of 6 cancers influenced by impaired glucose homeostasis. The results suggest that the E354Q variant is associated with higher risk of breast cancer and has adverse effects on glucose concentrations, insulin secretion, and testosterone concentrations.
Letter
Genetics & Heredity
Gibran Hemani, Apostolos Gkatzionis, Kate Tilling, George Davey Smith
GENETIC EPIDEMIOLOGY
(2023)
Article
Peripheral Vascular Disease
Hannah C. M. Taylor, Nishi Chaturvedi, George Davey Smith, Diana L. S. Ferreira, Abigail Fraser, Laura D. Howe, Alun D. Hughes, Debbie A. Lawlor, Nic J. Timpson, Chloe M. Park
Summary: This study investigated the appropriate allometric scaling relationships between left ventricular mass (LVM) and height, total lean mass, and body surface area in healthy adolescents. The results suggest that pooled data without adjustment for sex may introduce bias in allometric scaling estimates. Clinicians should consider body size, body composition, sex, and age when assessing left ventricular mass.
Article
Endocrinology & Metabolism
Kaitlin H. Wade, Fergus W. Hamilton, David Carslake, Naveed Sattar, George Davey Smith, Nicholas J. Timpson
Summary: Mendelian randomization (MR) is a commonly used method for strengthening causal inference by utilizing the properties of genetic variation. Nonlinear MR allows estimation of the shape of such relationships. In this study, the authors explore the utility and biases of these nonlinear MR methods using a negative control design.
Article
Multidisciplinary Sciences
Helena Urquijo, Genevieve M. Leyden, George Davey Smith, Tom G. Richardson
Summary: This study used human genetic data to investigate the effects of childhood and adulthood adiposity on asthma risk. The results showed that childhood adiposity directly increases the risk of pediatric asthma, while adulthood adiposity increases the risk of asthma in midlife.
Article
Biology
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 Bonnelykke, Andre G. Uitterlinden, Unnur Styrkarsdottir, 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
Summary: Skull bone mineral density (SK-BMD) is a suitable trait for studying bone biology, particularly related to intramembranous ossification. A genome-wide association meta-analysis identified 59 loci associated with SK-BMD, which collectively explained 12.5% of the variance in the trait. These loci are involved in skeletal development and osteoporosis, and four of them are related to intramembranous ossification and craniofacial abnormalities.
COMMUNICATIONS BIOLOGY
(2023)
Article
Psychology, Clinical
Lucy Riglin, Andrew Todd, Rachel Blakey, Amy Shakeshaft, Evie Stergiakouli, George Davey Smith, Kate Tilling, Anita Thapar
Summary: This study found that persistent attention-deficit/hyperactivity disorder (ADHD) is associated with negative social outcomes, such as being not in education, employment, or training (NEET) and receiving state benefits, at age 25. The findings emphasize the importance of continued monitoring and management of ADHD symptoms and related social and clinical outcomes throughout development into adulthood.
JOURNAL OF CLINICAL PSYCHIATRY
(2023)
Article
Cell Biology
Daniel B. Rosoff, Lucas A. Mavromatis, Andrew S. Bell, Josephin Wagner, Jeesun Jung, Riccardo E. Marioni, George Davey Smith, Steve Horvath, Falk W. Lohoff
Summary: By analyzing multiple aging-related phenotypes, this study identified genetic variants and genes associated with aging. Furthermore, it discovered potential drug targets that could improve healthy aging. These findings will contribute to future research on aging and health.
Review
Genetics & Heredity
Sarah Holmes Watkins, Christian Testa, Jarvis T. Chen, Immaculata De Vivo, Andrew J. Simpkin, Kate Tilling, Ana V. Diez Roux, George Davey Smith, Pamela D. Waterman, Matthew Suderman, Caroline Relton, Nancy Krieger
Summary: Epigenetic clocks are used to assess the impact of various phenotypes and exposures on healthy ageing, but little attention has been paid to the sociodemographic characteristics of the participants on whom these clocks are based. This review found that sociodemographic characteristics are generally poorly reported in the construction of commonly used epigenetic clocks. Clear reporting of participant characteristics is important to ensure the appropriateness of the model for other researchers.
ENVIRONMENTAL EPIGENETICS
(2023)
