Association of copy number variations in complement factor H-related genes among age-related macular degenerative subjects
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...
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| Format: | Article |
| Language: | English |
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Elsevier
2017
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| Online Access: | http://psasir.upm.edu.my/id/eprint/60961/ http://psasir.upm.edu.my/id/eprint/60961/1/Association%20of%20copy%20number%20variations%20in%20complement%20factor%20H-related%20genes%20among%20age-related%20macular%20degenerative%20subjects.pdf |
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| author | Md Bakri, Norshakimah Ramachandran, Vasudevan Hoo, Fan Kee Subrayan, Visvaraja Isa, Hazlita Ngah, Nor Fariza Mohamad, Nur Afiqah Ching, Siew Mooi Chan, Yoke Mun Ismail, Patimah Ismail, Fazliana Sukiman, Erma Suryana Wan Sulaiman, Wan Aliaa |
| author_facet | Md Bakri, Norshakimah Ramachandran, Vasudevan Hoo, Fan Kee Subrayan, Visvaraja Isa, Hazlita Ngah, Nor Fariza Mohamad, Nur Afiqah Ching, Siew Mooi Chan, Yoke Mun Ismail, Patimah Ismail, Fazliana Sukiman, Erma Suryana Wan Sulaiman, Wan Aliaa |
| author_sort | Md Bakri, Norshakimah |
| building | UPM Institutional Repository |
| collection | Online Access |
| description | 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. |
| first_indexed | 2025-11-15T11:07:48Z |
| format | Article |
| id | upm-60961 |
| institution | Universiti Putra Malaysia |
| institution_category | Local University |
| language | English |
| last_indexed | 2025-11-15T11:07:48Z |
| publishDate | 2017 |
| publisher | Elsevier |
| recordtype | eprints |
| repository_type | Digital Repository |
| spelling | upm-609612019-04-30T02:54:00Z http://psasir.upm.edu.my/id/eprint/60961/ Association of copy number variations in complement factor H-related genes among age-related macular degenerative subjects Md Bakri, Norshakimah Ramachandran, Vasudevan Hoo, Fan Kee Subrayan, Visvaraja Isa, Hazlita Ngah, Nor Fariza Mohamad, Nur Afiqah Ching, Siew Mooi Chan, Yoke Mun Ismail, Patimah Ismail, Fazliana Sukiman, Erma Suryana Wan Sulaiman, Wan Aliaa 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. Elsevier 2017 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/60961/1/Association%20of%20copy%20number%20variations%20in%20complement%20factor%20H-related%20genes%20among%20age-related%20macular%20degenerative%20subjects.pdf 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 Aliaa (2017) Association of copy number variations in complement factor H-related genes among age-related macular degenerative subjects. Kaohsiung Journal of Medical Sciences, 33 (12). 602 - 608. ISSN 1607-551X https://reader.elsevier.com/reader/sd/pii/S1607551X16304958?token=795919E525809683D9E20191AE84E80B521F5D8A921D5AA0B9625995269D397090E48DDC5C2679A7D41D87749A5999C0 10.1016/j.kjms.2017.08.003 |
| spellingShingle | Md Bakri, Norshakimah Ramachandran, Vasudevan Hoo, Fan Kee Subrayan, Visvaraja Isa, Hazlita Ngah, Nor Fariza Mohamad, Nur Afiqah Ching, Siew Mooi Chan, Yoke Mun Ismail, Patimah Ismail, Fazliana Sukiman, Erma Suryana Wan Sulaiman, Wan Aliaa Association of copy number variations in complement factor H-related genes among age-related macular degenerative subjects |
| title | Association of copy number variations in complement factor H-related genes among age-related macular degenerative subjects |
| title_full | Association of copy number variations in complement factor H-related genes among age-related macular degenerative subjects |
| title_fullStr | Association of copy number variations in complement factor H-related genes among age-related macular degenerative subjects |
| title_full_unstemmed | Association of copy number variations in complement factor H-related genes among age-related macular degenerative subjects |
| title_short | Association of copy number variations in complement factor H-related genes among age-related macular degenerative subjects |
| title_sort | association of copy number variations in complement factor h-related genes among age-related macular degenerative subjects |
| url | http://psasir.upm.edu.my/id/eprint/60961/ http://psasir.upm.edu.my/id/eprint/60961/ http://psasir.upm.edu.my/id/eprint/60961/ http://psasir.upm.edu.my/id/eprint/60961/1/Association%20of%20copy%20number%20variations%20in%20complement%20factor%20H-related%20genes%20among%20age-related%20macular%20degenerative%20subjects.pdf |