Lakshmi Priyankka Alagappan1,2, Yazhini Ramaswamy1,3, Deepak Kumar Sundaramoorthy1,4, Joshitha Bhaskar1, Sripriya Sarangapani1, Parveen Sen5, Rajiv Raman5, Muna Bhende5, Sinnakaruppan Mathavan6. 1. SN ONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya campus, Chennai, 600006, India. 2. School of Chemical and Biotechnology, SASTRA University, Tanjore, 613401, India. 3. Department of Biological Sciences, National University of Singapore, Singapore, 119077, Singapore. 4. Department of Molecular and Cellular Biology, Ludwig-Maximilians-Universität München, Großhaderner Straße 2-4, 82152, Planegg-Martinsried, Germany. 5. Shri Bhagwan Mahavir Department of Vitreo Retinal Services, Medical Research Foundation, Sankara Nethralaya, Chennai, 600006, India. 6. SN ONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Sankara Nethralaya campus, Chennai, 600006, India. mathavans@snmail.org.
Abstract
PURPOSE: Age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) are sister diseases and have several similar clinical features and still have few genetic differences. The association of HERPUD1 (homocysteine inducible ER protein with ubiquitin like domain 1) gene variant rs2217332 with PCV is known; however, such association with AMD has not been reported in the Indian population. We analyzed the association of rs2217332 with PCV and AMD to identify the preferential association of this variant with these diseases. METHODS: This is a population-based case-control study consisting of 422 patients (129 AMD cases; 101 PCV cases, 192 healthy controls) recruited from the vitreoretinal clinic Sankara Nethralaya. The sample size for the study was calculated using appropriate power calculation methods. Genotype was determined using PCR-based Sanger sequencing. The SPSS V23.0 statistical package tool was used to calculate chi-square and ROC to determine the association of rs2217332 with control, AMD, and PCV. RESULTS: Here, we report for the first time the association of this genetic variant (rs2217332) with AMD and PCV in the Indian population. The case-control study shows a significant association of this SNP with PCV (P value = 0.002); however, this variant is not significantly associated with AMD (P value = 0.602). Comparison between AMD (as control) and PCV (as case) also showed significant association of the SNP with PCV (P value = 0.02). Minor allele A conferred to increase the risk of PCV. CONCLUSIONS: The study concludes that the genetic variant rs2217332 in HERPUD1 gene is highly significantly associated with PCV and not with AMD in Indian populations.
PURPOSE: Age-related macular degeneration (AMD) and polypoidal choroidal vasculopathy (PCV) are sister diseases and have several similar clinical features and still have few genetic differences. The association of HERPUD1 (homocysteine inducible ER protein with ubiquitin like domain 1) gene variant rs2217332 with PCV is known; however, such association with AMD has not been reported in the Indian population. We analyzed the association of rs2217332 with PCV and AMD to identify the preferential association of this variant with these diseases. METHODS: This is a population-based case-control study consisting of 422 patients (129 AMD cases; 101 PCV cases, 192 healthy controls) recruited from the vitreoretinal clinic Sankara Nethralaya. The sample size for the study was calculated using appropriate power calculation methods. Genotype was determined using PCR-based Sanger sequencing. The SPSS V23.0 statistical package tool was used to calculate chi-square and ROC to determine the association of rs2217332 with control, AMD, and PCV. RESULTS: Here, we report for the first time the association of this genetic variant (rs2217332) with AMD and PCV in the Indian population. The case-control study shows a significant association of this SNP with PCV (P value = 0.002); however, this variant is not significantly associated with AMD (P value = 0.602). Comparison between AMD (as control) and PCV (as case) also showed significant association of the SNP with PCV (P value = 0.02). Minor allele A conferred to increase the risk of PCV. CONCLUSIONS: The study concludes that the genetic variant rs2217332 in HERPUD1 gene is highly significantly associated with PCV and not with AMD in Indian populations.
Authors: Chui Ming Gemmy Cheung; Timothy Y Y Lai; Paisan Ruamviboonsuk; Shih-Jen Chen; Youxin Chen; K Bailey Freund; Fomi Gomi; Adrian H Koh; Won-Ki Lee; Tien Yin Wong Journal: Ophthalmology Date: 2018-01-10 Impact factor: 12.079