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Glaucoma Genetics in Pakistan

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Advances in Vision Research, Volume III

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

Abstract

Glaucoma, a multifactorial ocular disease, is clinically and genetically heterogeneous. It is the second leading cause of blindness in elderly population worldwide. Because of the complex nature of glaucoma, the genetic spectrum has not been established globally. In Pakistan, both the familial and the sporadic forms of the disease are common, which is attributed to higher percentage of consanguinity in the Pakistani population. Till the year 2008, there were no reports from Pakistan about the genetic factors causing glaucoma. In order to identify the glaucoma genetic spectrum in the Pakistani population, we genetically screened individuals with glaucoma that included the common clinical subclasses; primary congenital glaucoma (PCG), primary open angle glaucoma (POAG), primary angle closure glaucoma (PACG), and pseudo-exfoliation glaucoma (PEXG). We conducted linkage analysis of the glaucoma families, case-control association analysis of the sporadic glaucoma cases using previously reported single nucleotide polymorphisms (SNPs), and also carried out genome wide association studies (GWAS). These studies have allowed us to discover novel glaucoma causing genes and risk-associated SNPs in the Pakistani population. The identification of novel glaucoma genes reveals novel molecular mechanisms involved in glaucoma pathogenesis. However, the clinical heterogeneity in the Pakistani glaucoma population suggests the need for further exploration of the molecular/genetic causes of the disease.

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Authors and Affiliations

  1. Department of Biomedical Sciences, Pak-Austria Fachhochschule: Institute of Applied Sciences and Technology Mang, Haripur, Pakistan

    Humaira Ayub

  2. Department of Biosciences, COMSATS University Islamabad, Islamabad Campus, Islamabad, Pakistan

    Maleeha Azam & Raheel Qamar

  3. Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    Shazia Micheal & Anneke den Hollander

  4. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands

    Muhammad Imran Khan & Anneke den Hollander

  5. Al-Shifa Trust Eye Hospital, Rawalpindi, Pakistan

    Farah Akhtar

  6. Division of Human Genetics, Genome Institute of Singapore, Singapore, Singapore

    Chiea Chuen Khor

  7. Singapore Eye Research Institute (SERI) & Singapore National Eye Center (SNEC), Singapore, Singapore

    Tin Aung

  8. Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore

    Tin Aung

  9. ICESCO, Rabat, Morocco

    Raheel Qamar

  10. Pakistan Academy of Sciences, Islamabad, Pakistan

    Raheel Qamar

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  1. Humaira Ayub
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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, National Hospital Organization Tokyo Medical Center, Tokyo, Japan

    Takeshi Iwata

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Ayub, H. et al. (2021). Glaucoma Genetics in Pakistan. In: Prakash, G., Iwata, T. (eds) Advances in Vision Research, Volume III. Essentials in Ophthalmology. Springer, Singapore. https://doi.org/10.1007/978-981-15-9184-6_18

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  • DOI: https://doi.org/10.1007/978-981-15-9184-6_18

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