Genetics of diabetic retinopathy, a leading cause of irreversible blindness in the industrialized world

AD Bhatwadekar, A Shughoury, A Belamkar, TA Ciulla - Genes, 2021 - mdpi.com
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 …

Genome-wide associations and confirmatory meta-analyses in diabetic retinopathy

X Yu, S Rong - Genes, 2023 - mdpi.com
The present study aimed to summarize and validate the genomic association signals for
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

IS Forrest, G Rocheleau, S Bafna… - European journal of …, 2022 - Wiley Online Library
Aims Individuals with supranormal left ventricular ejection fraction (snLVEF; LVEF> 70%)
have increased mortality. However, the genetic and phenotypic profile of snLVEF remains …

[PDF][PDF] Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program

X Hu, D Qiao, W Kim, M Moll, PP Balte… - The American Journal of …, 2022 - cell.com
While polygenic risk scores (PRSs) enable early identification of genetic risk for chronic
obstructive pulmonary disease (COPD), predictive performance is limited when the …

Polygenic Risk Scores for Glaucoma Onset in the Ocular Hypertension Treatment Study

RK Singh, Y Zhao, T Elze, J Fingert… - JAMA …, 2024 - jamanetwork.com
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 …

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 …

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 …

[HTML][HTML] Genome-first evaluation with exome sequence and clinical data uncovers underdiagnosed genetic disorders in a large healthcare system

IS Forrest, Á Duffy, JK Park, HMT Vy, LR Pasquale… - Cell Reports …, 2024 - cell.com
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 …

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 …

Association of polymorphisms in the erythropoietin gene with diabetic retinopathy: a case–control study and systematic review with meta-analysis

LFC Sesti, RC Sbruzzi, ER Polina… - BMC …, 2022 - Springer
Background Diabetic retinopathy (DR) is characterized by ischemia, hypoxia, and
angiogenesis. Erythropoietin (EPO), an angiogenic hormone, is upregulated in DR, and the …