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
Osteoporosis is a highly prevalent disorder characterized by low bone mineral density and
an increased risk of fracture, termed osteoporotic fracture. Notably, bone mineral density …

The landscape of GWAS validation; systematic review identifying 309 validated non-coding variants across 130 human diseases

AJ Alsheikh, S Wollenhaupt, EA King, J Reeb… - BMC medical …, 2022 - Springer
Background The remarkable growth of genome-wide association studies (GWAS) has
created a critical need to experimentally validate the disease-associated variants, 90% of …

LDBlockShow: a fast and convenient tool for visualizing linkage disequilibrium and haplotype blocks based on variant call format files

SS Dong, WM He, JJ Ji, C Zhang, Y Guo… - Briefings in …, 2021 - academic.oup.com
The triangular correlation heatmap aiming to visualize the linkage disequilibrium (LD)
pattern and haplotype block structure of SNPs is ubiquitous component of population-based …

Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation

S Rao, Y Yao, DE Bauer - Genome Medicine, 2021 - Springer
Genome-wide association studies (GWAS) have uncovered thousands of genetic variants
that influence risk for human diseases and traits. Yet understanding the mechanisms by …

Crosstalk of genetic variants, allele-specific DNA methylation, and environmental factors for complex disease risk

H Wang, D Lou, Z Wang - Frontiers in genetics, 2019 - frontiersin.org
Over the past decades, genome-wide association studies (GWAS) have identified thousands
of phenotype-associated DNA sequence variants for potential explanations of inter …

Long noncoding RNAs: a missing link in osteoporosis

AM Silva, SR Moura, JH Teixeira, MA Barbosa… - Bone research, 2019 - nature.com
Osteoporosis is a systemic disease that results in loss of bone density and increased
fracture risk, particularly in the vertebrae and the hip. This condition and associated …

Risk SNP-Mediated Enhancer–Promoter Interaction Drives Colorectal Cancer through Both FADS2 and AP002754.2

J Tian, J Lou, Y Cai, M Rao, Z Lu, Y Zhu, D Zou, X Peng… - Cancer research, 2020 - AACR
Although genome-wide association studies (GWAS) have identified more than 100
colorectal cancer risk loci, most of the biological mechanisms associated with these loci …

METTL3‐stabilized super enhancers‐lncRNA SUCLG2‐AS1 mediates the formation of a long‐range chromatin loop between enhancers and promoters of SOX2 in …

X Hu, J Wu, Y Feng, H Ma, E Zhang… - Clinical and …, 2023 - Wiley Online Library
Background Super enhancers (SE) play pivotal roles in cell identity and diseases occur
including tumorigenesis. The depletion of SE‐associated lncRNA transcripts, also known as …

High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes

YY Duan, XF Chen, RJ Zhu, YY Jia, XT Huang… - The American Journal of …, 2023 - cell.com
Most of the single-nucleotide polymorphisms (SNPs) associated with insulin resistance (IR)-
relevant phenotypes by genome-wide association studies (GWASs) are located in …

Significance of single-nucleotide variants in long intergenic non-protein coding RNAs

H Zou, LX Wu, L Tan, FF Shang… - Frontiers in Cell and …, 2020 - frontiersin.org
Single-nucleotide variants (SNVs) are the most common genetic variants and universally
present in the human genome. Genome-wide association studies (GWASs) have identified a …