Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects
Objective Lumbar disc degeneration (LDD) is an important cause of low back pain, which is
a common and costly problem. LDD is characterised by disc space narrowing and …
a common and costly problem. LDD is characterised by disc space narrowing and …
A gene variant near ATM is significantly associated with metformin treatment response in type 2 diabetes: a replication and meta-analysis of five cohorts
N Van Leeuwen, G Nijpels, ML Becker, H Deshmukh… - Diabetologia, 2012 - Springer
Aims/hypothesis In this study we aimed to replicate the previously reported association
between the glycaemic response to metformin and the SNP rs11212617 at a locus that …
between the glycaemic response to metformin and the SNP rs11212617 at a locus that …
Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure
Most previous genetic epidemiology studies within the field of osteoporosis have focused on
the genetics of the complex trait areal bone mineral density (aBMD), not being able to …
the genetics of the complex trait areal bone mineral density (aBMD), not being able to …
Human genetics of osteoporosis
S Ferrari - Best Practice & Research Clinical Endocrinology & …, 2008 - Elsevier
A family history of hip fracture carries a twofold increased risk of fracture among
descendants. Genetic factors indeed play a major role in the determination of bone mineral …
descendants. Genetic factors indeed play a major role in the determination of bone mineral …
Characterisation of genetic regulatory effects for osteoporosis risk variants in human osteoclasts
BH Mullin, J Tickner, K Zhu, J Kenny, S Mullin… - Genome biology, 2020 - Springer
Background Osteoporosis is a complex disease with a strong genetic contribution. A recently
published genome-wide association study (GWAS) for estimated bone mineral density …
published genome-wide association study (GWAS) for estimated bone mineral density …
Clinical phenotype and relevance of LRP5 and LRP6 variants in patients with early‐onset osteoporosis (EOOP)
J Stürznickel, T Rolvien, A Delsmann… - Journal of Bone and …, 2020 - academic.oup.com
Reduced bone mineral density (BMD; ie, Z‐score≤− 2.0) occurring at a young age (ie,
premenopausal women and men< 50 years) in the absence of secondary osteoporosis is …
premenopausal women and men< 50 years) in the absence of secondary osteoporosis is …
Bivariate genome-wide association meta-analysis of pediatric musculoskeletal traits reveals pleiotropic effects at the SREBF1/TOM1L2 locus
Bone mineral density is known to be a heritable, polygenic trait whereas genetic variants
contributing to lean mass variation remain largely unknown. We estimated the shared SNP …
contributing to lean mass variation remain largely unknown. We estimated the shared SNP …
SP7: From bone development to skeletal disease
JS Wang, N Tokavanich, MN Wein - Current osteoporosis reports, 2023 - Springer
Abstract Purpose of Review The purpose of this review is to summarize the different roles of
the transcription factor SP7 in regulating bone formation and remodeling, discuss current …
the transcription factor SP7 in regulating bone formation and remodeling, discuss current …
The genetic response to short-term interventions affecting cardiovascular function: rationale and design of the Heredity and Phenotype Intervention (HAPI) Heart Study
BD Mitchell, PF McArdle, H Shen, E Rampersaud… - American heart …, 2008 - Elsevier
BACKGROUND: The etiology of cardiovascular disease (CVD) is multifactorial. Efforts to
identify genes influencing CVD risk have met with limited success to date, likely because of …
identify genes influencing CVD risk have met with limited success to date, likely because of …
IRF4 variants have age-specific effects on nevus count and predispose to melanoma
DL Duffy, MM Iles, D Glass, G Zhu, JH Barrett… - The American Journal of …, 2010 - cell.com
High melanocytic nevus count is a strong predictor of melanoma risk. A GWAS of nevus
count in Australian adolescent twins identified an association of nevus count with the …
count in Australian adolescent twins identified an association of nevus count with the …