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      The association of hepatocyte growth factor ( HGF) gene with primary angle closure glaucoma in the Nepalese population

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          Abstract

          Purpose

          Genetic variation in the hepatocyte growth factor ( HGF) gene has recently been associated with hyperopia, which is a known risk factor for primary angle closure glaucoma (PACG). This study aimed to investigate whether genetic variation in HGF is associated with primary angle closure glaucoma in the Nepalese population.

          Methods

          One hundred six Nepalese patients with primary angle closure glaucoma and 204 matched controls were recruited. Twelve tag single nucleotide polymorphisms (SNPs) were selected and genotyped to cover the majority of common variation within HGF. Genotype and haplotype analyses were conducted in PLINK.

          Results

          Four HGF SNPs were found to be significantly associated with PACG, rs5745718, rs12536657, rs12540393 and rs17427817 (p=0.002, 0.002, 0.0006, and 0.0006, respectively). In addition, haplotype analysis showed one common haplotype to be significantly associated with PACG (p=0.001) in this population.

          Conclusions

          Genetic variation in HGF is associated with PACG in the Nepalese population. Additional replication studies in other populations are necessary to confirm this association and to further explore the role of HGF in the pathogenesis of this blinding disease.

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          Glaucoma in China: how big is the problem?

          J. Foster, Liam Johnson (2001)
          To derive preliminary estimates for the number of adults in China suffering from glaucoma, and project the burden of visual morbidity attributable to primary and secondary glaucoma. Age and sex specific data from two population surveys were applied to US Census Bureau population estimates for urban and rural China. It was assumed that data from Singapore were representative of urban China, and those from Mongolia were representative of rural China. It was estimated that 9.4 million people aged 40 years and older in China have glaucomatous optic neuropathy. Of this number, 5.2 million (55%) are blind in at least one eye and 1.7 million (18.1%) are blind in both eyes. Primary angle closure glaucoma (PACG) is responsible for the vast majority (91%) of bilateral glaucoma blindness in China. The number of people with the anatomical trait predisposing to PACG (an "occludable" drainage angle) is in the region of 28.2 million, and of these 9.1 million have significant angle closure, indicated by peripheral anterior synechiae or raised intraocular pressure. This extrapolation of data from two east Asian countries gives an approximate number of people in China suffering from glaucoma. It is unlikely that this crude statistical model is entirely accurate. However, the authors believe the visual morbidity from glaucoma in China is considerable. PACG is probably the leading cause of glaucoma blindness in both eyes, and warrants detailed investigation of strategies for prevention.
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            The prevalence of glaucoma in Chinese residents of Singapore: a cross-sectional population survey of the Tanjong Pagar district.

            D Machin, Jason J. Devereux, H. Ng … (2000)
            Data on prevalence of glaucoma in East Asia are scarce. To determine the prevalence and clinical characteristics of glaucoma in adult Chinese Singaporeans. A group of 2000 Chinese people, aged 40 to 79 years, were selected from the electoral register of Tanjong Pagar district in Singapore using a disproportionate, stratified, clustered, random-sampling procedure. Glaucoma was diagnosed in people with an excavated optic neuropathy and a reproducible visual field defect or on the basis of severe structural disc abnormality alone, if reliable field results could not be obtained. The diagnosis was also made in blind subjects with raised intraocular pressure or previous glaucoma surgery. Of 1717 eligible subjects, 1232 were examined, with a response rate of 71.8%. There were 45 cases of glaucoma: 27 were men and 18 were women. The main diagnoses were primary open-angle glaucoma (n = 22 [49%]), primary angle-closure glaucoma (n = 14 [31%]), and secondary glaucoma (n = 7 [16%]). It was not possible to determine the mechanism in 2 (4%). The age-standardized prevalence of glaucoma was 3.2% (95% confidence interval, 2.3-4.1) in the population 40 years and older. Glaucoma was the leading cause of blindness. Primary angle-closure glaucoma and secondary glaucoma were the most visually destructive forms of the disease. Our findings suggest current projections of glaucoma prevalence among ethnic Chinese are a substantial underestimate. Arch Ophthalmol. 2000;118:1105-1111
            Article 0 comments Cited 84 times – based on 0 reviews     Review now
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              Complex trait genetics of refractive error.

              Jesse T Young, Ravikanth Metlapally, Laura Shay (2006)
              Refractive errors (myopia, hyperopia, and astigmatism) are complex heterogeneous disorders of the human eye and are ideal for genetic investigation. Moderate to severe refractive errors can predispose individuals to poor visual development, various types of glaucoma, misshapen corneal surfaces, premature cataracts, and loss of retinal integrity, which can lead to detachment. Knowledge of genetic mechanisms involved in refractive error susceptibility may allow treatment to prevent progression or to further examine gene-environment interactions. Early genetic predisposition detection for developing severe refractive errors may be useful for efficient and cost-effective screening program design. This review explores the genetic mechanisms associated with nonsyndromic refractive error development known to date.
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                Author and article information

                Journal
                Journal ID (nlm-ta): Mol Vis
                Journal ID (publisher-id): MV
                Title: Molecular Vision
                Publisher: Molecular Vision
                ISSN (Electronic): 1090-0535
                Publication date Collection: 2011
                Publication date (Electronic): 19 August 2011
                Volume: 17
                Pages: 2248-2254
                Affiliations
                [1 ]Department of Ophthalmology, Flinders University, Flinders Medical Centre Adelaide, South Australia, Australia
                [2 ]Nepal Glaucoma Eye Clinics, Tilganga Institute of Ophthalmology, Kathmandu, Nepal
                [3 ]Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia
                Author notes
                Correspondence to: Dr. Mona S. Awadalla, Ophthalmology Department, Flinders University, GPO Box 2100, Adelaide South Australia, Australia 5000; Phone: +61 8 8204 6985; FAX: +61 8 8277 0899; email: awad0002@ 123456flinders.edu.au
                Article
                Publisher ID: 244 Publisher ID: 2011MOLVIS0245
                PMC ID: 3164689
                PubMed ID: 21897747
                SO-VID: 79ca278a-ce97-42bc-a84d-6e7f033470e9
                Copyright © Copyright © 2011 Molecular Vision.
                License:

                This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 30 May 2011
                Date accepted : 15 August 2011
                Categories
                Subject: Research Article
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                corr-author Awadalla

                ScienceOpen disciplines: Vision sciences
                Data availability:
                ScienceOpen disciplines: Vision sciences

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