A multiethnic whole genome sequencing study to identify novel loci for bone mineral density

J Greenbaum, KJ Su, X Zhang, Y Liu… - Human Molecular …, 2022 - academic.oup.com
… (BMD) and increased susceptibility to low trauma fractures. It … a large effect size near a novel
locus EN1 (6), whereas another … This study aims to propose novel genetic determinants of …

Rare EN1 Variants and Pediatric Bone Mass

JA Mitchell, A Chesi, SE McCormack, SM Roy… - 2016 - academic.oup.com
genetic variation near EN1 and common variation near SOX6 operates in childhood and has
implications for the lifelong risk of osteoporosis and fracture. … genetic determinants of bone

Genetic determinants of bone mass and osteoporotic fracture

YH Hsu, CR Farber, DP Kiel - Principles of Bone Biology, 2020 - Elsevier
… This approach interrogates the whole genome to search for … The growing number of loci for
bone density highlights the … and 3′ regulatory regions of the EN1 gene was also found to be …

The genetic architecture of osteoporosis and fracture risk

K Trajanoska, F Rivadeneira - Bone, 2019 - Elsevier
… Such other determinants of bone strength like geometry, … EN1 is another important novel
gene involved in murine … polygenic traits such as bone density and can drastically improve the …

Genetic determinants and pharmacogenetics of osteoporosis and osteoporotic fracture

YH Hsu, X Xu, S Jeong - Osteoporosis: pathophysiology and clinical …, 2020 - Springer
… GWAS approach interrogates the whole genome to search for … genetic determinants of bone
density in adult may identify … role of EN1 in bone metabolism, we generated En1 knockout …

The osteoporosis susceptibility SNP rs188303909 at 2q14.2 regulates EN1 expression by modulating DNA methylation and E2F6 binding

Y Wang, X Huang, Q Zhang, C Cheng, Z Qin… - Journal of Molecular …, 2024 - Springer
… It has been demonstrated that EN1 is a determinant of bone density and fracture, which is …
calvarial intramembranous bone formation and limb development [20, 22, 23]. EN1 encodes a …

Sequence variants in the PTCH1 gene associate with spine bone mineral density and osteoporotic fractures

U Styrkarsdottir, G Thorleifsson, SA Gudjonsson… - Nature …, 2016 - nature.com
… reported EN1 locus 14 . … sequenced the whole genomes of 2,636 Icelanders using Illumina
technology to a mean depth of at least × 10 (median × 20). SNPs and indels were identified

[PDF][PDF] whole exome sequencing in two Asian families with atypical femur fractures

HH Nguyena, W Zhoud, D van de Laarschotd… - Atypical femur fractures … - pure.eur.nl
… We conducted whole exome sequencing on DNA of three cases, performed candidate …
Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature. …

A road map for understanding molecular and genetic determinants of osteoporosis

TL Yang, H Shen, A Liu, SS Dong, L Zhang… - Nature Reviews …, 2020 - nature.com
… low bone mineral density and an increased risk of fracture, … For example, the GEnetic Factors
for OSteoporosis (GEFOS) … , has identified dozens of new susceptibility loci (such as EN1) …

Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS)

S Chen, M Jain, S Jhangiani, ZC Akdemir… - Journal of Bone and …, 2020 - academic.oup.com
… of the biology underlying low bone density that may point to … (ES) and whole genome
sequencing (WGS), have emerged … En1 −/− mice recapitulated the low bone mass phenotype …