Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration
Background: Several studies in various populations have been conducted to determine candidate genes that could contribute to age-related macular degeneration (AMD) pathogenesis. Objective: The present study was undertaken to determine the association of high temperature requirement A-1 (HTRA1), vasc...
| Main Authors: | , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2018-07-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1110863017300897 |
| _version_ | 1818118655622250496 |
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| author | Norshakimah Md Bakri Vasudevan Ramachandran Fan Kee Hoo Visvaraja Subrayan Hazlita Isa Nor Fariza Ngah Nur Afiqah Mohamad Siew Mooi Ching Yoke Mun Chan Patimah Ismail Fazliana Ismail Erma Suryana Sukiman Wan Alia Wan Sulaiman |
| author_facet | Norshakimah Md Bakri Vasudevan Ramachandran Fan Kee Hoo Visvaraja Subrayan Hazlita Isa Nor Fariza Ngah Nur Afiqah Mohamad Siew Mooi Ching Yoke Mun Chan Patimah Ismail Fazliana Ismail Erma Suryana Sukiman Wan Alia Wan Sulaiman |
| author_sort | Norshakimah Md Bakri |
| collection | DOAJ |
| description | Background: Several studies in various populations have been conducted to determine candidate genes that could contribute to age-related macular degeneration (AMD) pathogenesis. Objective: The present study was undertaken to determine the association of high temperature requirement A-1 (HTRA1), vascular endothelial growth factor (VEGF) and very-low-density receptor (VLDR) genes with wet AMD subjects in Malaysia. Methods: A total of 125 subjects with wet AMD and 120 subjects without AMD from the Malaysian population were selected for this study. Genomic DNA was extracted and copy number variations (CNVs) were determined using quantitative real-time Polymerase Chain Reaction (qPCR) and comparison between the two groups was done. The demographic characteristics were also recorded. Statistical analysis was carried out using software where a level of P < 0.05 was considered to be statistically significant. Result: Statistically significant associations of the VEGF gene were observed in mean copy differences between case and control subjects (P < 0.05). The consistency of both unadjusted and age-adjusted data at Copy Number CN gain (CN = 3 and CN = 4) suggested that VEGF could increase the risk of wet AMD disease (P < 0.05). None of CNVs of HTRA1 and VLDR genes showed associations with the wet AMD disease based on comparisons of the frequencies of mean (P > 0.05). Conclusion: Observations of an association between CNVs of VEGF gene and wet AMD have revealed that the CNVs of VEGF gene appears to be a possible contributor to wet AMD subjects in Malaysia. Keywords: Age-related macular degeneration, Copy number variations, VEGF, HTRA1, VLDR genes and Malaysia |
| first_indexed | 2024-12-11T04:57:46Z |
| format | Article |
| id | doaj.art-2c75a6037f894482866cb80a576824ae |
| institution | Directory Open Access Journal |
| issn | 1110-8630 |
| language | English |
| last_indexed | 2024-12-11T04:57:46Z |
| publishDate | 2018-07-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-2c75a6037f894482866cb80a576824ae2022-12-22T01:20:13ZengSpringerOpenEgyptian Journal of Medical Human Genetics1110-86302018-07-01193207213Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degenerationNorshakimah Md Bakri0Vasudevan Ramachandran1Fan Kee Hoo2Visvaraja Subrayan3Hazlita Isa4Nor Fariza Ngah5Nur Afiqah Mohamad6Siew Mooi Ching7Yoke Mun Chan8Patimah Ismail9Fazliana Ismail10Erma Suryana Sukiman11Wan Alia Wan Sulaiman12Malaysian Research Institute on Ageing, Universiti Putra Malaysia, Serdang 43400, Selangor DE, MalaysiaMalaysian Research Institute on Ageing, Universiti Putra Malaysia, Serdang 43400, Selangor DE, Malaysia; Corresponding authors.Department of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Selangor DE, MalaysiaDepartment of Ophthalmology, Pusat Perubatan Universiti Malaya, Lembah Pantai, 59100 Kuala Lumpur, MalaysiaDepartment of Ophthalmology, Universiti Kebangsaan Malaysia Medical Centre, Jalan Yaacob Latif, Bandar Tun Razak, 56000 Cheras, Kuala Lumpur, MalaysiaDepartment of Ophthalmology, Hospital Selayang, Lebuhraya Selayang – Kepong, 68100 Batu Caves, MalaysiaMalaysian Research Institute on Ageing, Universiti Putra Malaysia, Serdang 43400, Selangor DE, MalaysiaDepartment of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Selangor DE, MalaysiaDepartment of Nutrition, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Selangor DE, Malaysia; Corresponding authors.Department of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Selangor DE, MalaysiaDepartment of Ophthalmology, Pusat Perubatan Universiti Malaya, Lembah Pantai, 59100 Kuala Lumpur, MalaysiaDepartment of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Selangor DE, MalaysiaDepartment of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang 43400, Selangor DE, MalaysiaBackground: Several studies in various populations have been conducted to determine candidate genes that could contribute to age-related macular degeneration (AMD) pathogenesis. Objective: The present study was undertaken to determine the association of high temperature requirement A-1 (HTRA1), vascular endothelial growth factor (VEGF) and very-low-density receptor (VLDR) genes with wet AMD subjects in Malaysia. Methods: A total of 125 subjects with wet AMD and 120 subjects without AMD from the Malaysian population were selected for this study. Genomic DNA was extracted and copy number variations (CNVs) were determined using quantitative real-time Polymerase Chain Reaction (qPCR) and comparison between the two groups was done. The demographic characteristics were also recorded. Statistical analysis was carried out using software where a level of P < 0.05 was considered to be statistically significant. Result: Statistically significant associations of the VEGF gene were observed in mean copy differences between case and control subjects (P < 0.05). The consistency of both unadjusted and age-adjusted data at Copy Number CN gain (CN = 3 and CN = 4) suggested that VEGF could increase the risk of wet AMD disease (P < 0.05). None of CNVs of HTRA1 and VLDR genes showed associations with the wet AMD disease based on comparisons of the frequencies of mean (P > 0.05). Conclusion: Observations of an association between CNVs of VEGF gene and wet AMD have revealed that the CNVs of VEGF gene appears to be a possible contributor to wet AMD subjects in Malaysia. Keywords: Age-related macular degeneration, Copy number variations, VEGF, HTRA1, VLDR genes and Malaysiahttp://www.sciencedirect.com/science/article/pii/S1110863017300897 |
| spellingShingle | Norshakimah Md Bakri Vasudevan Ramachandran Fan Kee Hoo Visvaraja Subrayan Hazlita Isa Nor Fariza Ngah Nur Afiqah Mohamad Siew Mooi Ching Yoke Mun Chan Patimah Ismail Fazliana Ismail Erma Suryana Sukiman Wan Alia Wan Sulaiman Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration Egyptian Journal of Medical Human Genetics |
| title | Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration |
| title_full | Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration |
| title_fullStr | Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration |
| title_full_unstemmed | Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration |
| title_short | Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration |
| title_sort | copy number variation in vegf gene as a biomarker of susceptibility to age related macular degeneration |
| url | http://www.sciencedirect.com/science/article/pii/S1110863017300897 |
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