Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration

Md Bakri, Norshakimah and Ramachandran, Vasudevan and Hoo, Fan Kee and Subrayan, Visvaraja and Isa, Hazlita and Ngah, Nor Fariza and Mohamad, Nur Afiqah and Ching, Siew Mooi and Chan, Yoke Mun and Ismail, Patimah and Ismail, Fazliana and Sukiman, Erma Suryana and Wan Sulaiman, Wan Alia (2018) Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration. Egyptian Journal of Medical Human Genetics, 19 (3). pp. 207-213. ISSN 1110-8630, DOI

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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.

Item Type: Article
Funders: Ethics Committee of Universiti Kebangsaan Malaysia (Reference: FF-2014-206), University Ethics Committee for Research Involving Human Subjects (Reference: MREC15, P008) under the Putra Grant, UPM Project (No. 9409800), National Medical Research Register (Reference: NMRR-14-1176-21475), Geran Putra Project (No: 9409800) and Geran Putra IPS (9476500) from Universiti Putra Malaysia
Uncontrolled Keywords: Age-related macular degeneration; Copy number variations; VEGF; HTRA1; VLDR genes and Malaysia
Subjects: R Medicine
Divisions: Faculty of Medicine
Depositing User: Ms. Juhaida Abd Rahim
Date Deposited: 27 May 2019 02:28
Last Modified: 27 May 2019 02:28

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