Nonsense mutation in the LGR4 gene is associated with several human diseases and other traits

U Styrkarsdottir, G Thorleifsson, P Sulem… - Nature, 2013 - nature.com
Low bone mineral density (BMD) is used as a parameter of osteoporosis. Genome-wide
association studies of BMD have hitherto focused on BMD as a quantitative trait, yielding …

Update on bone anabolics in osteoporosis treatment: rationale, current status, and perspectives

R Baron, E Hesse - The Journal of Clinical Endocrinology & …, 2012 - academic.oup.com
Osteoporosis is defined as low bone mineral density associated with skeletal fractures
secondary to minimal or no trauma, most often involving the spine, the hip, and the forearm …

Genome-wide association study using extreme truncate selection identifies novel genes affecting bone mineral density and fracture risk

EL Duncan, P Danoy, JP Kemp, PJ Leo… - PLoS …, 2011 - journals.plos.org
Osteoporotic fracture is a major cause of morbidity and mortality worldwide. Low bone
mineral density (BMD) is a major predisposing factor to fracture and is known to be highly …

New sequence variants associated with bone mineral density

U Styrkarsdottir, BV Halldorsson, S Gretarsdottir… - Nature …, 2009 - nature.com
In an extended genome-wide association study of bone mineral density among 6,865
Icelanders and a follow-up in 8,510 subjects of European descent, we identified four new …

Genome-scale Capture C promoter interactions implicate effector genes at GWAS loci for bone mineral density

A Chesi, Y Wagley, ME Johnson, E Manduchi… - Nature …, 2019 - nature.com
Osteoporosis is a devastating disease with an essential genetic component. GWAS have
discovered genetic signals robustly associated with bone mineral density (BMD), but not the …

Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density

G Thorleifsson, H Holm, V Edvardsson, GB Walters… - Nature …, 2009 - nature.com
Kidney stone disease is a common condition. To search for sequence variants conferring
risk of kidney stones, we conducted a genome-wide association study in 3,773 cases and …

Collaborative meta-analysis: associations of 150 candidate genes with osteoporosis and osteoporotic fracture

JB Richards, FK Kavvoura, F Rivadeneira… - Annals of internal …, 2009 - acpjournals.org
Background: Osteoporosis is a highly heritable trait. Many candidate genes have been
proposed as being involved in regulating bone mineral density (BMD). Few of these findings …

Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size

N Soranzo, F Rivadeneira, U Chinappen-Horsley… - PLoS …, 2009 - journals.plos.org
Recent genome-wide (GW) scans have identified several independent loci affecting human
stature, but their contribution through the different skeletal components of height is still …

Genetic variation in the multidrug and toxin extrusion 1 transporter protein influences the glucose-lowering effect of metformin in patients with diabetes: a preliminary …

ML Becker, LE Visser, RHN van Schaik, A Hofman… - Diabetes, 2009 - Am Diabetes Assoc
OBJECTIVE—Metformin, an oral glucose-lowering drug, is taken up in hepatocytes by the
organic cation transporter (OCT) 1 and in renal epithelium by OCT2. In these cells, the …

A genome‐wide association study identifies an osteoarthritis susceptibility locus on chromosome 7q22

HJM Kerkhof, RJ Lories, I Meulenbelt… - … : Official Journal of …, 2010 - Wiley Online Library
Objective To identify novel genes involved in osteoarthritis (OA), by means of a genome‐
wide association study. Methods We tested 500,510 single‐nucleotide polymorphisms …