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

Bakri NM 1 , Ramachandran V 2 , Kee HF 3 , Subrayan V 4 , Isa H 5 , Ngah NF 6 Show all authors , Mohamad NA 1 , Mooi CS 3 , Mun CY 7 , Ismail P 8 , Ismail F 4 , Sukiman ES 3 , Wan Sulaiman WA 3

Affiliations 

  • 1 Malaysian Research Institute on Ageing, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia
  • 2 Malaysian Research Institute on Ageing, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia. Electronic address: vasuphd@gmail.com
  • 3 Department of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia
  • 4 Department of Ophthalmology, Pusat Perubatan Universiti of Malaya, Kuala Lumpur, Malaysia
  • 5 Department of Ophthalmology, Universiti Kebangsaan Malaysia Medical Center, Kuala Lumpur, Malaysia
  • 6 Department of Ophthalmology, Hospital Selayang, Malaysia
  • 7 Department of Nutrition, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia
  • 8 Department of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia
Kaohsiung J. Med. Sci., 2017 Dec;33(12):602-608.
PMID: 29132549 DOI: 10.1016/j.kjms.2017.08.003

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 

* Title and MeSH Headings from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.

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