Association analysis of polymorphisms rs12997 in ACVR1 and rs1043784 in BMP6 genes involved in bone morphogenic protein signaling pathway in primary angle-closure and pseudoexfoliation glaucoma patients of Saudi origin.
Altaf A KondkarTahira SultanTaif A AzadEssam A OsmanFaisal A AlmobarakSaleh A Al-ObeidanPublished in: BMC medical genetics (2020)
Our results suggest that the polymorphism rs12997 in the ACVR1 gene involved in the BMP signaling pathway is significantly associated with PACG and PXG in a Saudi cohort. This is the first study to associate this variant/gene with PACG and PXG. However, further studies would be needed to replicate these findings in a large population-based cohort.
Keyphrases
- signaling pathway
- end stage renal disease
- mesenchymal stem cells
- pi k akt
- genome wide
- ejection fraction
- bone regeneration
- copy number
- newly diagnosed
- epithelial mesenchymal transition
- chronic kidney disease
- prognostic factors
- high resolution
- saudi arabia
- peritoneal dialysis
- oxidative stress
- small molecule
- binding protein
- mass spectrometry
- protein protein
- bone marrow
- genome wide analysis
- amino acid
- patient reported