Novel genetic variants associated with lumbar disc degeneration in northern Europeans: a meta-analysis of 4600 subjects

FMK Williams, AT Bansal, JB van Meurs… - Annals of the …, 2013 - ard.bmj.com
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 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 …

Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure

L Paternoster, M Lorentzon, T Lehtimäki… - PLoS …, 2013 - journals.plos.org
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 …

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 …

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 …

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 …

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

C Medina-Gomez, JP Kemp, NL Dimou… - Nature …, 2017 - nature.com
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 …

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 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 …

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 …