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Genetics of Ocular Diseases in Malaysia

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Advances in Vision Research, Volume II

Part of the book series: Essentials in Ophthalmology ((ESSENTIALS))

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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.

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Informed Consent

All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2000 (5). Informed consent was obtained from all patients for being included in the study.

Animal Studies

No animal or human studies were carried out by the authors for this article.

Compliance with Ethical Requirements

Author Liza-Sharmini AT has received speaker honorarium by Pfizer Malaysia Sdn Bhd, Novartis Malaysia, and Santen Malaysia. She was involved in clinical trial study sponsored by Allergan.

Author Tengku Ain Kamalden declares that she has no conflict of interest.

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Authors and Affiliations

  1. Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kota Bharu, Kelantan, Malaysia

    A. T. Liza-Sharmini

  2. University of Liverpool, Liverpool, UK

    T. A. Kamalden

  3. Faculty of Medicine, Department of Ophthalmology, UM Eye Research Centre, University of Malaya, Kuala Lumpur, Malaysia

    T. A. Kamalden

Authors
  1. A. T. Liza-Sharmini
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  2. T. A. Kamalden
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Corresponding author

Correspondence to A. T. Liza-Sharmini .

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Editors and Affiliations

  1. National Eye Institute, National Institutes of Health, Bethesda, MD, USA

    Gyan Prakash

  2. National Institute of Sensory Organs Tokyo Medical Center, National Hospital Organization, Tokyo, Japan

    Takeshi Iwata

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Liza-Sharmini, A.T., Kamalden, T.A. (2019). Genetics of Ocular Diseases in Malaysia. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume II. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-13-0884-0_6

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  • DOI: https://doi.org/10.1007/978-981-13-0884-0_6

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