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  1. Article ; Online: Bone health index in the assessment of bone health: The Generation R Study.

    Prijatelj, Vid / Grgic, Olja / Uitterlinden, André G / Wolvius, Eppo B / Rivadeneira, Fernando / Medina-Gomez, Carolina

    Bone

    2024  Volume 182, Page(s) 117070

    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 aimed to investigate whether BHI is associated with bone mineral density (BMD) and ... ...

    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 aimed to investigate whether BHI is associated with bone mineral density (BMD) and prevalent fracture odds in children from the Generation R Study. We also implemented genome-wide association study (GWAS) and polygenic score (PGS) approaches to improve our understanding of BHI and its potential. In total, 4150 children (49.4 % boys; aged 9.8 years) with genotyped data and bone assessments were included in this study. BMD was measured across the total body (less head following ISCD guidelines) using a GE-Lunar iDXA densitometer; and BHI was determined from the hand DXA scans using BoneXpert®. Fractures were self-reported collected with home questionnaires. The association of BHI with BMD and fractures was evaluated using linear models corrected for age, sex, ethnicity, height, and weight. We observed a positive correlation between BHI and BMD (ρ = 0.32, p-value<0.0001). Further, every SD decrease in BHI was associated with an 11 % increased risk of prevalent fractures (OR:1.11, 95 % CI 1.00-1.24, p-value = 0.05). Our BHI GWAS identified variants (lead SNP rs1404264-A, p-value = 2.61 × 10
    MeSH term(s) Male ; Child ; Humans ; Female ; Bone Density/genetics ; Genome-Wide Association Study ; Fractures, Bone/epidemiology ; Fractures, Bone/genetics ; Absorptiometry, Photon/methods ; Bone and Bones ; Homeodomain Proteins ; Tumor Suppressor Proteins
    Chemical Substances ING3 protein, human ; Homeodomain Proteins ; Tumor Suppressor Proteins
    Language English
    Publishing date 2024-03-07
    Publishing country United States
    Document type Journal Article
    ZDB-ID 632515-4
    ISSN 1873-2763 ; 8756-3282
    ISSN (online) 1873-2763
    ISSN 8756-3282
    DOI 10.1016/j.bone.2024.117070
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Down-to-Earth Studies of the Gut Microbiome in Bone Health and Disease.

    Li, Ruolin / Medina-Gomez, Carolina / Rivadeneira, Fernando

    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

    2022  Volume 37, Issue 4, Page(s) 595–596

    MeSH term(s) Bone Density ; Bone and Bones ; Gastrointestinal Microbiome ; Humans ; Osteoporosis
    Language English
    Publishing date 2022-03-30
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 632783-7
    ISSN 1523-4681 ; 0884-0431
    ISSN (online) 1523-4681
    ISSN 0884-0431
    DOI 10.1002/jbmr.4547
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  3. Article ; Online: Bringing Genomic Discoveries to the Clinic: Integrating Omic Data Into the Musculoskeletal Field Through International Teamwork and Collaboration.

    Rivadeneira, Fernando / Westendorf, Jennifer J

    Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

    2020  Volume 35, Issue 9, Page(s) 1623–1625

    MeSH term(s) Cooperative Behavior ; Genomics ; Knowledge
    Language English
    Publishing date 2020-08-26
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 632783-7
    ISSN 1523-4681 ; 0884-0431
    ISSN (online) 1523-4681
    ISSN 0884-0431
    DOI 10.1002/jbmr.4148
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  4. Article ; Online: Response to Comment on Koromani et al. Vertebral Fractures in Individuals With Type 2 Diabetes: More Than Skeletal Complications Alone. Diabetes Care 2020;43:137-144.

    Koromani, Fjorda / Rivadeneira, Fernando

    Diabetes care

    2020  Volume 43, Issue 6, Page(s) e69

    MeSH term(s) Diabetes Mellitus, Type 2/complications ; Humans ; Spinal Fractures/etiology
    Language English
    Publishing date 2020-05-19
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 441231-x
    ISSN 1935-5548 ; 0149-5992
    ISSN (online) 1935-5548
    ISSN 0149-5992
    DOI 10.2337/dci19-0081
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  5. Article: Genomic Medicine: Lessons Learned From Monogenic and Complex Bone Disorders.

    Trajanoska, Katerina / Rivadeneira, Fernando

    Frontiers in endocrinology

    2020  Volume 11, Page(s) 556610

    Abstract: Current genetic studies of monogenic and complex bone diseases have broadened our understanding of disease pathophysiology, highlighting the need for medical interventions and treatments tailored to the characteristics of patients. As genomic research ... ...

    Abstract Current genetic studies of monogenic and complex bone diseases have broadened our understanding of disease pathophysiology, highlighting the need for medical interventions and treatments tailored to the characteristics of patients. As genomic research progresses, novel insights into the molecular mechanisms are starting to provide support to clinical decision-making; now offering ample opportunities for disease screening, diagnosis, prognosis and treatment. Drug targets holding mechanisms with genetic support are more likely to be successful. Therefore, implementing genetic information to the drug development process and a molecular redefinition of skeletal disease can help overcoming current shortcomings in pharmaceutical research, including failed attempts and appalling costs. This review summarizes the achievements of genetic studies in the bone field and their application to clinical care, illustrating the imminent advent of the genomic medicine era.
    MeSH term(s) Bone Diseases, Developmental/drug therapy ; Bone Diseases, Developmental/genetics ; Drug Discovery ; Gene Editing ; Humans ; Hyperostosis/genetics ; Mendelian Randomization Analysis ; Osteochondrodysplasias/genetics ; Osteogenesis Imperfecta/genetics ; Osteopetrosis/genetics ; Osteoporosis/drug therapy ; Osteoporosis/genetics ; Syndactyly/genetics
    Language English
    Publishing date 2020-10-09
    Publishing country Switzerland
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2020.556610
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Bi-Directional Interactions between Glucose-Lowering Medications and Gut Microbiome in Patients with Type 2 Diabetes Mellitus: A Systematic Review

    Li, Ruolin / Shokri, Fereshteh / Rincon, Alejandro Lopez / Rivadeneira, Fernando / Medina-Gomez, Carolina / Ahmadizar, Fariba

    Genes (Basel). 2023 Aug. 01, v. 14, no. 8

    2023  

    Abstract: Background: Although common drugs for treating type 2 diabetes (T2D) are widely used, their therapeutic effects vary greatly. The interaction between the gut microbiome and glucose-lowering drugs is one of the main contributors to the variability in T2D ... ...

    Abstract Background: Although common drugs for treating type 2 diabetes (T2D) are widely used, their therapeutic effects vary greatly. The interaction between the gut microbiome and glucose-lowering drugs is one of the main contributors to the variability in T2D progression and response to therapy. On the one hand, glucose-lowering drugs can alter gut microbiome components. On the other hand, specific gut microbiota can influence glycemic control as the therapeutic effects of these drugs. Therefore, this systematic review assesses the bi-directional relationships between common glucose-lowering drugs and gut microbiome profiles. Methods: A systematic search of Embase, Web of Science, PubMed, and Google Scholar databases was performed. Observational studies and randomised controlled trials (RCTs), published from inception to July 2023, comprising T2D patients and investigating bi-directional interactions between glucose-lowering drugs and gut microbiome, were included. Results: Summarised findings indicated that glucose-lowering drugs could increase metabolic-healthy promoting taxa (e.g., Bifidobacterium) and decrease harmful taxa (e.g., Bacteroides and Intestinibacter). Our findings also showed a significantly different abundance of gut microbiome taxa (e.g., Enterococcus faecium (i.e., E. faecium)) in T2D patients with poor compared to optimal glycemic control. Conclusions: This review provides evidence for glucose-lowering drug and gut microbiome interactions, highlighting the potential of gut microbiome modulators as co-adjuvants for T2D treatment.
    Keywords Bacteroides ; Bifidobacterium ; Enterococcus faecium ; drugs ; glycemic control ; intestinal microorganisms ; noninsulin-dependent diabetes mellitus ; systematic review ; therapeutics
    Language English
    Dates of publication 2023-0801
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article ; Online
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14081572
    Database NAL-Catalogue (AGRICOLA)

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  7. Article: The genetic overlap between osteoporosis and craniosynostosis.

    Kague, Erika / Medina-Gomez, Carolina / Boyadjiev, Simeon A / Rivadeneira, Fernando

    Frontiers in endocrinology

    2022  Volume 13, Page(s) 1020821

    Abstract: Osteoporosis is the most prevalent bone condition in the ageing population. This systemic disease is characterized by microarchitectural deterioration of bone, leading to increased fracture risk. In the past 15 years, genome-wide association studies ( ... ...

    Abstract Osteoporosis is the most prevalent bone condition in the ageing population. This systemic disease is characterized by microarchitectural deterioration of bone, leading to increased fracture risk. In the past 15 years, genome-wide association studies (GWAS), have pinpointed hundreds of loci associated with bone mineral density (BMD), helping elucidate the underlying molecular mechanisms and genetic architecture of fracture risk. However, the challenge remains in pinpointing causative genes driving GWAS signals as a pivotal step to drawing the translational therapeutic roadmap. Recently, a skull BMD-GWAS uncovered an intriguing intersection with craniosynostosis, a congenital anomaly due to premature suture fusion in the skull. Here, we recapitulate the genetic contribution to both osteoporosis and craniosynostosis, describing the biological underpinnings of this overlap and using zebrafish models to leverage the functional investigation of genes associated with skull development and systemic skeletal homeostasis.
    MeSH term(s) Animals ; Craniosynostoses/genetics ; Genome-Wide Association Study ; Osteoporosis/epidemiology ; Skull ; Zebrafish/genetics
    Language English
    Publishing date 2022-09-26
    Publishing country Switzerland
    Document type Journal Article ; Review ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 2592084-4
    ISSN 1664-2392
    ISSN 1664-2392
    DOI 10.3389/fendo.2022.1020821
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Bi-Directional Interactions between Glucose-Lowering Medications and Gut Microbiome in Patients with Type 2 Diabetes Mellitus: A Systematic Review.

    Li, Ruolin / Shokri, Fereshteh / Rincon, Alejandro Lopez / Rivadeneira, Fernando / Medina-Gomez, Carolina / Ahmadizar, Fariba

    Genes

    2023  Volume 14, Issue 8

    Abstract: ... ...

    Abstract Background
    MeSH term(s) Humans ; Gastrointestinal Microbiome ; Bacteroides ; Bifidobacterium ; Diabetes Mellitus, Type 2/drug therapy ; Glucose
    Chemical Substances Glucose (IY9XDZ35W2)
    Language English
    Publishing date 2023-08-01
    Publishing country Switzerland
    Document type Systematic Review ; Journal Article ; Review ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes14081572
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: The genetic architecture of osteoporosis and fracture risk.

    Trajanoska, Katerina / Rivadeneira, Fernando

    Bone

    2019  Volume 126, Page(s) 2–10

    Abstract: Osteoporosis and fracture risk are common complex diseases, caused by an interaction of numerous disease susceptibility genes and environmental factors. With the advances in genomic technologies, large-scale genome-wide association studies (GWAS) have ... ...

    Abstract Osteoporosis and fracture risk are common complex diseases, caused by an interaction of numerous disease susceptibility genes and environmental factors. With the advances in genomic technologies, large-scale genome-wide association studies (GWAS) have been performed which have broadened our understanding of the genetic architecture and biological mechanisms of complex disease. Currently, more than ~90 loci have been found associated with DXA derived bone mineral density (BMD), over ~500 loci with heel estimated BMD and several others with other less widely available bone parameters such as bone geometry, shape, and microarchitecture. Notably, several of the pathways identified by the GWAS efforts correspond to pathways that are currently targeted for the treatment of osteoporosis. Overall, tremendous progress in the field of the genetics of osteoporosis has been achieved with the discovery of WNT16, EN1, DAAM2, and GPC6 among others. Assessment of the function and biological mechanisms of the remaining genes may further untangle the complex genetic landscape of osteoporosis and fracture risk. With this review we aimed to provide a general overview of the existing GWAS studies on osteoporosis traits and fracture risk.
    MeSH term(s) Bone Density/genetics ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Osteoporosis/genetics ; Osteoporosis/physiopathology ; Osteoporotic Fractures/genetics ; Osteoporotic Fractures/physiopathology ; Risk Factors
    Language English
    Publishing date 2019-04-10
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 632515-4
    ISSN 1873-2763 ; 8756-3282
    ISSN (online) 1873-2763
    ISSN 8756-3282
    DOI 10.1016/j.bone.2019.04.005
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  10. Article ; Online: Oral microbiota of adolescents with dental caries: A systematic review.

    Veenman, Francien / van Dijk, Anne / Arredondo, Alexandre / Medina-Gomez, Carolina / Wolvius, Eppo / Rivadeneira, Fernando / Àlvarez, Gerard / Blanc, Vanessa / Kragt, Lea

    Archives of oral biology

    2024  Volume 161, Page(s) 105933

    Abstract: Objective: This systematic review summarizes the current knowledge on the association between the oral microbiota and dental caries in adolescents.: Design: An electronic search was carried out across five databases. Studies were included if they ... ...

    Abstract Objective: This systematic review summarizes the current knowledge on the association between the oral microbiota and dental caries in adolescents.
    Design: An electronic search was carried out across five databases. Studies were included if they conducted research on generally healthy adolescents, applied molecular-based microbiological analyses and assessed caries status. Data extraction was performed by two reviewers and the Newcastle-Ottawa Scale was applied for quality assessment.
    Results: In total, 3935 records were reviewed which resulted in a selection of 20 cross-sectional studies (published 2005-2022) with a sample size ranging from 11 to 614 participants including adolescents between 11 and 19 years. The studies analyzed saliva, dental biofilm or tongue swabs with Checkerboard DNA-DNA hybridization, (q)PCR or Next-Generation Sequencing methods. Prevotella denticola, Scardoviae Wiggsiae, Streptococcus sobrinus and Streptococcus mutans were the most frequently reported species presenting higher abundance in adolescents with caries. The majority of the studies reported that the microbial diversity was similar between participants with and without dental caries.
    Conclusion: This systematic review is the first that shows how the oral microbiota composition in adolescents appears to differ between those with and without dental caries, suggesting certain taxa may be associated with increased caries risk. However, there is a need to replicate and expand these findings in larger, longitudinal studies that also focus on caries severity and take adolescent-specific factors into account.
    MeSH term(s) Humans ; Adolescent ; Dental Caries/microbiology ; Cross-Sectional Studies ; Streptococcus mutans ; Saliva/microbiology ; Microbiota ; DNA
    Chemical Substances DNA (9007-49-2)
    Language English
    Publishing date 2024-02-27
    Publishing country England
    Document type Systematic Review ; Journal Article ; Review
    ZDB-ID 80227-x
    ISSN 1879-1506 ; 0003-9969
    ISSN (online) 1879-1506
    ISSN 0003-9969
    DOI 10.1016/j.archoralbio.2024.105933
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