Genetics of diabetic retinopathy, a leading cause of irreversible blindness in the industrialized world
Diabetic retinopathy (DR) is a chronic complication of diabetes and a leading cause of
blindness in the industrialized world. Traditional risk factors, such as glycemic control and …
blindness in the industrialized world. Traditional risk factors, such as glycemic control and …
Genome-wide associations and confirmatory meta-analyses in diabetic retinopathy
The present study aimed to summarize and validate the genomic association signals for
diabetic retinopathy (DR), proliferative DR, and diabetic macular edema/diabetic …
diabetic retinopathy (DR), proliferative DR, and diabetic macular edema/diabetic …
Genetic and phenotypic profiling of supranormal ejection fraction reveals decreased survival and underdiagnosed heart failure
Aims Individuals with supranormal left ventricular ejection fraction (snLVEF; LVEF> 70%)
have increased mortality. However, the genetic and phenotypic profile of snLVEF remains …
have increased mortality. However, the genetic and phenotypic profile of snLVEF remains …
[HTML][HTML] Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program
While polygenic risk scores (PRSs) enable early identification of genetic risk for chronic
obstructive pulmonary disease (COPD), predictive performance is limited when the …
obstructive pulmonary disease (COPD), predictive performance is limited when the …
Polygenic Risk Scores for Glaucoma Onset in the Ocular Hypertension Treatment Study
Importance Primary open-angle glaucoma (POAG) is a highly heritable disease, with 127
identified risk loci to date. Polygenic risk score (PRS) may provide a clinically useful …
identified risk loci to date. Polygenic risk score (PRS) may provide a clinically useful …
Polygenic Risk Scores and Genetically Complex Eye Disease
NQ Le, W He, S MacGregor - Annual Review of Vision Science, 2024 - annualreviews.org
The success of genome-wide association studies (GWASs) in uncovering genetic variants
associated with complex eye diseases has paved the way for the development of risk …
associated with complex eye diseases has paved the way for the development of risk …
Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics
TW Cook, AM Wilstermann, JT Mitchell, NE Arnold… - Biomolecules, 2023 - mdpi.com
Insulin is amongst the human genome's most well-studied genes/proteins due to its
connection to metabolic health. Within this article, we review literature and data to build a …
connection to metabolic health. Within this article, we review literature and data to build a …
Development of a Polygenic Risk Score for BMI to Assess the Genetic Susceptibility to Obesity and Related Diseases in the Korean Population
N Yoon, YS Cho - International Journal of Molecular Sciences, 2023 - mdpi.com
Hundreds of genetic variants for body mass index (BMI) have been identified from numerous
genome-wide association studies (GWAS) in different ethnicities. In this study, we aimed to …
genome-wide association studies (GWAS) in different ethnicities. In this study, we aimed to …
[HTML][HTML] Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system
Population-based genomic screening may help diagnose individuals with disease-risk
variants. Here, we perform a genome-first evaluation for nine disorders in 29,039 …
variants. Here, we perform a genome-first evaluation for nine disorders in 29,039 …
Association of SDF-1 and its receptor CXCR4 polymorphisms on the susceptibility of diabetic retinopathy in the Taiwanese population
SY Peng, CC Chuang, YS Hwang, CH Yen… - Frontiers in …, 2023 - frontiersin.org
Stromal cell-derived factor-1 (SDF-1) and its receptor CXC chemokine 4 (CXCR4) have
been demonstrated to play critical roles in diabetic retinopathy (DR). This study investigated …
been demonstrated to play critical roles in diabetic retinopathy (DR). This study investigated …