An osteoporosis risk SNP at 1p36. 12 acts as an allele-specific enhancer to modulate LINC00339 expression via long-range loop formation

XF Chen, DL Zhu, M Yang, WX Hu, YY Duan… - The American Journal of …, 2018 - cell.com
Genome-wide association studies (GWASs) have reproducibly associated variants within
intergenic regions of 1p36. 12 locus with osteoporosis, but the functional roles underlying …

Multiple osteoporosis susceptibility genes on chromosome 1p36 in Chinese

QY Huang, GHY Li, AWC Kung - Bone, 2009 - Elsevier
INTRODUCTION: Chromosome 1p36 is a region that has previously shown good evidence
of linkage to bone mineral density (BMD) in multiple studies, but the genes that are …

An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits

YH Hsu, MC Zillikens, SG Wilson, CR Farber… - PLoS …, 2010 - journals.plos.org
Osteoporosis is a complex disorder and commonly leads to fractures in elderly persons.
Genome-wide association studies (GWAS) have become an unbiased approach to identify …

LncRNA ZBTB40-IT1 modulated by osteoporosis GWAS risk SNPs suppresses osteogenesis

B Mei, Y Wang, W Ye, H Huang, Q Zhou, Y Chen, Y Niu… - Human Genetics, 2019 - Springer
Previous genome-wide linkage and association studies have identified an osteoporosis-
associated locus at 1p36 that harbors SNPs rs34920465 and rs6426749. The 1p36 locus …

Genome-wide copy number variation association study suggested VPS13B gene for osteoporosis in Caucasians

FY Deng, LJ Zhao, YF Pei, BY Sha, XG Liu… - Osteoporosis …, 2010 - Springer
Osteoporotic fracture (OF) is a serious outcome of osteoporosis. Important risk factors for OF
include reduced bone mineral density and unstable bone structure. This genome-wide copy …

Functional relevance for associations between osteoporosis and genetic variants

K Liu, LJ Tan, P Wang, XD Chen, LH Zhu, Q Zeng… - PLoS …, 2017 - journals.plos.org
Osteoporosis is characterized by increased bone loss and deterioration of bone
microarchitecture, which will lead to reduced bone strength and increased risk of fragility …

Joint study of two genome-wide association meta-analyses identified 20p12. 1 and 20q13. 33 for bone mineral density

YF Pei, WZ Hu, MW Yan, CW Li, L Liu, XL Yang, R Hai… - Bone, 2018 - Elsevier
In the present study, aiming to identify loci associated with osteoporosis, we conducted a
joint association study of 2 independent genome-wide association meta-analyses of femoral …

Whole exome sequencing reveals potentially pathogenic variants in a small subset of premenopausal women with idiopathic osteoporosis

A Cohen, J Hostyk, EH Baugh, CM Buchovecky… - Bone, 2022 - Elsevier
Osteoporosis in premenopausal women with intact gonadal function and no known
secondary cause of bone loss is termed idiopathic osteoporosis (IOP). Women with IOP …

Multiple Functional Variants at 13q14 Risk Locus for Osteoporosis Regulate RANKL Expression Through Long‐Range Super‐Enhancer

DL Zhu, XF Chen, WX Hu, SS Dong… - Journal of Bone and …, 2018 - academic.oup.com
ABSTRACT RANKL is a key regulator involved in bone metabolism, and a drug target for
osteoporosis. The clinical diagnosis and assessment of osteoporosis are mainly based on …

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 …