Identifying Causes of Fracture Beyond Bone Mineral Density: Evidence From Human Genetics

Investigating the genetic architecture of noncognitive skills using GWAS-by-subtraction

(2021) Perline A. Demange et al.   NATURE GENETICS

Improved prediction of fracture risk leveraging a genome-wide polygenic risk score

(2021) Tianyuan Lu et al.   Genome Medicine

A polygenic risk score to predict future adult short stature amongst children

(2021) Tianyuan Lu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

RSPO3 is important for trabecular bone and fracture risk in mice and humans

(2021) Karin H. Nilsson et al.   Nature Communications

Rare Genetic Variants of Large Effect Influence Risk of Type 1 Diabetes.

(2020) Vincenzo Forgetta et al.   DIABETES

Tutorial: a guide to performing polygenic risk score analyses

(2020) Shing Wan Choi et al.   Nature Protocols

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

(2020) Wei Zhou et al.   Nature Communications

Development of a polygenic risk score to improve screening for fracture risk: A genetic risk prediction study

(2020) Vincenzo Forgetta et al.   PLOS MEDICINE

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

(2019) Mengzhen Liu et al.   NATURE GENETICS

PhenoScanner V2: an expanded tool for searching human genotype–phenotype associations

(2019) Mihir A Kamat et al.   BIOINFORMATICS

GWAS of bone size yields twelve loci that also affect height, BMD, osteoarthritis or fractures

(2019) Unnur Styrkarsdottir et al.   Nature Communications

Genomic structural equation modelling provides insights into the multivariate genetic architecture of complex traits

(2019) Andrew D. Grotzinger et al.   Nature Human Behaviour

Genome-wide association study in 79,366 European-ancestry individuals informs the genetic architecture of 25-hydroxyvitamin D levels

(2018) Xia Jiang et al.   Nature Communications

Assessment of the genetic and clinical determinants of fracture risk: genome wide association and mendelian randomisation study

(2018) Katerina Trajanoska et al.   BMJ-British Medical Journal

Critical Enzymatic Functions of FTO in Obesity and Cancer

(2018) Xiaolan Deng et al.   Frontiers in Endocrinology

The UK Biobank resource with deep phenotyping and genomic data

(2018) Clare Bycroft et al.   NATURE

An atlas of genetic influences on osteoporosis in humans and mice

(2018) John A. Morris et al.   NATURE GENETICS

Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis

(2017) John P Kemp et al.   NATURE GENETICS

Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus

(2017) Carolina Medina-Gomez et al.   Nature Communications

Large-scale GWAS identifies multiple loci for hand grip strength providing biological insights into muscular fitness

(2017) Sara M. Willems et al.   Nature Communications

Osteoporosis treatment: recent developments and ongoing challenges

(2017) Sundeep Khosla et al.   Lancet Diabetes & Endocrinology

RSPO3-LGR4 Regulates Osteogenic Differentiation Of Human Adipose-Derived Stem Cells Via ERK/FGF Signalling

(2017) Min Zhang et al.   Scientific Reports

New genetic loci link adipose and insulin biology to body fat distribution

(2015) Dmitry Shungin et al.   NATURE

A global reference for human genetic variation

(2015) Richard A. Gibbs et al.   NATURE

Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture

(2015) Hou‐Feng Zheng et al.   NATURE

A comprehensive 1000 Genomes–based genome-wide association meta-analysis of coronary artery disease

(2015) Majid Nikpay et al.   NATURE GENETICS

Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair

(2015) Felix R Day et al.   NATURE GENETICS

An atlas of genetic correlations across human diseases and traits

(2015) Brendan Bulik-Sullivan et al.   NATURE GENETICS

LD Score regression distinguishes confounding from polygenicity in genome-wide association studies

(2015) Brendan K Bulik-Sullivan et al.   NATURE GENETICS

The bone-sparing effects of estrogen and WNT16 are independent of each other

(2015) Sofia Movérare-Skrtic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identifying Causal Variants at Loci with Multiple Signals of Association

(2014) F. Hormozdiari et al.   GENETICS

R-spondins: Novel matricellular regulators of the skeleton

(2014) M. Noelle Knight et al.   MATRIX BIOLOGY

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

(2014) John R. B. Perry et al.   NATURE

Osteoblast-derived WNT16 represses osteoclastogenesis and prevents cortical bone fragility fractures

(2014) Sofia Movérare-Skrtic et al.   NATURE MEDICINE

Clinician’s Guide to Prevention and Treatment of Osteoporosis

(2014) F. Cosman et al.   OSTEOPOROSIS INTERNATIONAL

Variation in the Kozak sequence of WNT16 results in an increased translation and is associated with osteoporosis related parameters

(2013) Gretl Hendrickx et al.   BONE

High Bone Mineral Density and Fracture Risk in Type 2 Diabetes as Skeletal Complications of Inadequate Glucose Control: The Rotterdam Study

(2013) L. Oei et al.   DIABETES CARE

A link between FTO, ghrelin, and impaired brain food-cue responsivity

(2013) Efthimia Karra et al.   JOURNAL OF CLINICAL INVESTIGATION

Genetics of rheumatoid arthritis contributes to biology and drug discovery

(2013) Yukinori Okada et al.   NATURE

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

Missense polymorphisms of the WNT16 gene are associated with bone mass, hip geometry and fractures

(2013) C. García-Ibarbia et al.   OSTEOPOROSIS INTERNATIONAL

Bone healing and Mannose-Binding Lectin

(2013) J. Van der Ende et al.   International Journal of Surgery

Role of sclerostin in bone and cartilage and its potential as a therapeutic target in bone diseases

(2013) E. Michael Lewiecki   Therapeutic Advances in Musculoskeletal Disease

Meta-analysis of genome-wide studies identifiesWNT16andESR1SNPs associated with bone mineral density in premenopausal women

(2012) Daniel L Koller et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

(2012) Luke Jostins et al.   NATURE

Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture

(2012) Karol Estrada et al.   NATURE GENETICS

Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits

(2012) Jian Yang et al.   NATURE GENETICS

Meta-Analysis of Genome-Wide Scans for Total Body BMD in Children and Adults Reveals Allelic Heterogeneity and Age-Specific Effects at the WNT16 Locus

(2012) Carolina Medina-Gomez et al.   PLoS Genetics

WNT16 Influences Bone Mineral Density, Cortical Bone Thickness, Bone Strength, and Osteoporotic Fracture Risk

(2012) Hou-Feng Zheng et al.   PLoS Genetics

A Review of Osteoporosis Diagnosis and Treatment Options in New and Recently Updated Guidelines on Case Finding Around the World

(2011) William D. Leslie et al.   Current Osteoporosis Reports

GWAMA: software for genome-wide association meta-analysis

(2010) Reedik Mägi et al.   BMC BIOINFORMATICS

Integrating common and rare genetic variation in diverse human populations

(2010)   NATURE

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

(2010) Josée Dupuis et al.   NATURE GENETICS

Markers of bone turnover for the prediction of fracture risk and monitoring of osteoporosis treatment: a need for international reference standards

(2010) S. Vasikaran et al.   OSTEOPOROSIS INTERNATIONAL

FRAX™ and the assessment of fracture probability in men and women from the UK

(2008) J. A. Kanis et al.   OSTEOPOROSIS INTERNATIONAL