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

Autor: Bakri NM; Malaysian Research Institute on Ageing, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia., Ramachandran V; Malaysian Research Institute on Ageing, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia. Electronic address: vasuphd@gmail.com., Kee HF; Department of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia., Subrayan V; Department of Ophthalmology, Pusat Perubatan Universiti of Malaya, Kuala Lumpur, Malaysia., Isa H; Department of Ophthalmology, Universiti Kebangsaan Malaysia Medical Center, Kuala Lumpur, Malaysia., Ngah NF; Department of Ophthalmology, Hospital Selayang, Malaysia., Mohamad NA; Malaysian Research Institute on Ageing, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia., Mooi CS; Department of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia., Mun CY; Department of Nutrition, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia., Ismail P; Department of Biomedical Science, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia., Ismail F; Department of Ophthalmology, Pusat Perubatan Universiti of Malaya, Kuala Lumpur, Malaysia., Sukiman ES; Department of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia., Wan Sulaiman WA; Department of Medicine, Faculty of Medicine and Health Sciences, Universiti Putra Malaysia, Serdang, Selangor DE, Malaysia.
Jazyk: angličtina
Zdroj: The Kaohsiung journal of medical sciences [Kaohsiung J Med Sci] 2017 Dec; Vol. 33 (12), pp. 602-608. Date of Electronic Publication: 2017 Sep 06.
DOI: 10.1016/j.kjms.2017.08.003
Abstrakt: 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.
(Copyright © 2017. Published by Elsevier Taiwan.)
Databáze: MEDLINE
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