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

Norshakimah Md Bakri, Vasudevan Ramachandran, Fan Kee Hoo, Visvaraja Subrayan, Hazlita Mohd Isa, Nor Fariza Ngah, Nur Afiqah Mohamad, Siew Mooi Ching, Yoke Mun Chan, Patimah Ismail, Fazliana Ismail, Erma Suryana Sukiman, Wan Alia Wan Sulaiman

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
JournalEgyptian Journal of Medical Human Genetics
DOIs
Publication statusAccepted/In press - 2017

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Macular Degeneration
Vascular Endothelial Growth Factor A
Biomarkers
Genes
Malaysia
Population
Real-Time Polymerase Chain Reaction
Software
Demography
Temperature
DNA

Keywords

  • Age-related macular degeneration
  • Copy number variations
  • HTRA1
  • VEGF
  • VLDR genes and Malaysia

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Md Bakri, N., Ramachandran, V., Hoo, F. K., Subrayan, V., Mohd Isa, H., Ngah, N. F., ... Wan Sulaiman, W. A. (Accepted/In press). Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration. Egyptian Journal of Medical Human Genetics. https://doi.org/10.1016/j.ejmhg.2017.09.003

Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration. / Md Bakri, Norshakimah; Ramachandran, Vasudevan; Hoo, Fan Kee; Subrayan, Visvaraja; Mohd Isa, Hazlita; Ngah, Nor Fariza; Mohamad, Nur Afiqah; Ching, Siew Mooi; Chan, Yoke Mun; Ismail, Patimah; Ismail, Fazliana; Sukiman, Erma Suryana; Wan Sulaiman, Wan Alia.

In: Egyptian Journal of Medical Human Genetics, 2017.

Research output: Contribution to journalArticle

Md Bakri, N, Ramachandran, V, Hoo, FK, Subrayan, V, Mohd Isa, H, Ngah, NF, Mohamad, NA, Ching, SM, Chan, YM, Ismail, P, Ismail, F, Sukiman, ES & Wan Sulaiman, WA 2017, 'Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration', Egyptian Journal of Medical Human Genetics. https://doi.org/10.1016/j.ejmhg.2017.09.003
Md Bakri, Norshakimah ; Ramachandran, Vasudevan ; Hoo, Fan Kee ; Subrayan, Visvaraja ; Mohd Isa, Hazlita ; Ngah, Nor Fariza ; Mohamad, Nur Afiqah ; Ching, Siew Mooi ; Chan, Yoke Mun ; Ismail, Patimah ; Ismail, Fazliana ; Sukiman, Erma Suryana ; Wan Sulaiman, Wan Alia. / Copy number variation in VEGF gene as a biomarker of susceptibility to age-related macular degeneration. In: Egyptian Journal of Medical Human Genetics. 2017.
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abstract = "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.",
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AU - Md Bakri, Norshakimah

AU - Ramachandran, Vasudevan

AU - Hoo, Fan Kee

AU - Subrayan, Visvaraja

AU - Mohd Isa, Hazlita

AU - Ngah, Nor Fariza

AU - Mohamad, Nur Afiqah

AU - Ching, Siew Mooi

AU - Chan, Yoke Mun

AU - Ismail, Patimah

AU - Ismail, Fazliana

AU - Sukiman, Erma Suryana

AU - Wan Sulaiman, Wan Alia

PY - 2017

Y1 - 2017

N2 - 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.

AB - 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.

KW - Age-related macular degeneration

KW - Copy number variations

KW - HTRA1

KW - VEGF

KW - VLDR genes and Malaysia

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