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- W2899000366 abstract "Understanding the role of genetics in clinical practice has evolved drastically in Malaysia. However, the understanding of genetics in ocular diseases is still at the infancy. In this chapter, we summarize the publications on genetic studies involving Malaysian population on glaucoma, age-related macular degeneration, diabetic retinopathy, retinopathy of prematurity, and retinoblastoma. Potential susceptibility genetic markers for primary open-angle glaucoma (POAG) and primary angle-closure glaucoma (PACG) were identified through single gene analysis and genome-wide association study (GWAS). TGF-ß signaling pathway is the potential susceptibility gene for POAG. MYOC gene was also identified in a large Malay family with juvenile-onset open-angle glaucoma (JOAG). Single nucleotide polymorphism (SNP) of VEGF+405 may play a role in wet age-related macular degeneration in Malaysian population, while SNP of 2245G/A was found to be associated with diabetic retinopathy, possibly through NF-κβ-mediated pro-inflammatory pathway. Exome-wide association studies (EWAS) on a pilot cohort of 20 premature Malaysian infants, different loci of SNPs in LRP5, FZD4, ZNF408 (chromosome 10), and KIF 11 (chromosome 11) genes were identified. No specific hot spot in RB1 gene in Malaysian children with retinoblastoma was found. In general, more exploration is needed in understanding the genetic influences in ocular diseases in Malaysia." @default.
- W2899000366 created "2018-11-09" @default.
- W2899000366 creator A5070088098 @default.
- W2899000366 creator A5072107188 @default.
- W2899000366 date "2018-11-04" @default.
- W2899000366 modified "2023-09-26" @default.
- W2899000366 title "Genetics of Ocular Diseases in Malaysia" @default.
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- W2899000366 doi "https://doi.org/10.1007/978-981-13-0884-0_6" @default.
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