Association of copy number variations in complement factor H-Related genes among age-related macular degenerative subjects

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

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Age-related macular degeneration (AMD) is the most widely recognised cause of irreversible vision loss and previous studies have suggested that the advancement of wet AMD is influenced by both modifiable and non-modifiable elements. Single nucleotide polymorphism (SNPs) and copy number of variations (CNVs) have been associated with AMD in various populations, however the results are conflicting. Our aim is to determine the CNVs of Complement Factor H-Related genes among Malaysian subjects with wet AMD. 130 patients with wet AMD and 120 healthy controls were included in this research. DNA was extracted from all subjects and CNVs of CFH, CFHR1 and CFHR3 genes; determined using quantitative real-time PCR and were compared between the two groups. A consistent association was observed between CFH gene and wet AMD susceptibility (P < 0.05). The age-adjusted data suggests a possible increased risk of AMD disease (P < 0.05). No correlation was detected between CNVs and wet AMD for the remaining genes after we compared the frequencies of mean for that gene. An association was observed between CFH CNVs and wet AMD in the Malaysian population, however, strong evidence of a link with wet AMD was not found. Further investigative studies are needed using larger sample sizes to elucidate the role of CNVs in AMD pathogenesis.

Original languageEnglish
JournalKaohsiung Journal of Medical Sciences
DOIs
Publication statusAccepted/In press - 2017

Fingerprint

Complement Factor H
Macular Degeneration
Genes
Gene Frequency
Sample Size
Population
Single Nucleotide Polymorphism
Real-Time Polymerase Chain Reaction

Keywords

  • Age-related macular degeneration
  • CFH gene
  • Copy number variation
  • Malaysia

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Bakri, N. M., Ramachandran, V., Kee, H. F., Subrayan, V., Mohd Isa, H., Ngah, N. F., ... Wan Sulaiman, W. A. (Accepted/In press). Association of copy number variations in complement factor H-Related genes among age-related macular degenerative subjects. Kaohsiung Journal of Medical Sciences. https://doi.org/10.1016/j.kjms.2017.08.003

Association of copy number variations in complement factor H-Related genes among age-related macular degenerative subjects. / Bakri, Norshakimah Md; Ramachandran, Vasudevan; Kee, Hoo Fan; Subrayan, Visvaraja; Mohd Isa, Hazlita; Ngah, Nor Fariza; Mohamad, Nur Afiqah; Mooi, Ching Siew; Mun, Chan Yoke; Ismail, Patimah; Ismail, Fazliana; Sukiman, Erma Suryana; Wan Sulaiman, Wan Alia.

In: Kaohsiung Journal of Medical Sciences, 2017.

Research output: Contribution to journalArticle

Bakri, NM, Ramachandran, V, Kee, HF, Subrayan, V, Mohd Isa, H, Ngah, NF, Mohamad, NA, Mooi, CS, Mun, CY, Ismail, P, Ismail, F, Sukiman, ES & Wan Sulaiman, WA 2017, 'Association of copy number variations in complement factor H-Related genes among age-related macular degenerative subjects', Kaohsiung Journal of Medical Sciences. https://doi.org/10.1016/j.kjms.2017.08.003
Bakri, Norshakimah Md ; Ramachandran, Vasudevan ; Kee, Hoo Fan ; Subrayan, Visvaraja ; Mohd Isa, Hazlita ; Ngah, Nor Fariza ; Mohamad, Nur Afiqah ; Mooi, Ching Siew ; Mun, Chan Yoke ; Ismail, Patimah ; Ismail, Fazliana ; Sukiman, Erma Suryana ; Wan Sulaiman, Wan Alia. / Association of copy number variations in complement factor H-Related genes among age-related macular degenerative subjects. In: Kaohsiung Journal of Medical Sciences. 2017.
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AU - Mohd Isa, Hazlita

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