Comprehensive analysis of Copy Number Variation of genes at chromosome 1 and 10 loci associated with late age related macular degeneration.

PloS One
Stuart CantsilierisPaul N Baird

Abstract

Copy Number Variants (CNVs) are now recognized as playing a significant role in complex disease etiology. Age-related macular degeneration (AMD) is the most common cause of irreversible vision loss in the western world. While a number of genes and environmental factors have been associated with both risk and protection in AMD, the role of CNVs has remained largely unexplored. We analyzed the two major AMD risk-associated regions on chromosome 1q32 and 10q26 for CNVs using Multiplex Ligation-dependant Probe Amplification. The analysis targeted nine genes in these two key regions, including the Complement Factor H (CFH) gene, the 5 CFH-related (CFHR) genes representing a known copy number "hotspot", the F13B gene as well as the ARMS2 and HTRA1 genes in 387 cases of late AMD and 327 controls. No copy number variation was detected at the ARMS2 and HTRA1 genes in the chromosome 10 region, nor for the CFH and F13B genes at the chromosome 1 region. However, significant association was identified for the CFHR3-1 deletion in AMD cases (p = 2.38 × 10(-12)) OR = 0.31, CI-0.95 (0.23-0.44), for both neovascular disease (nAMD) (p = 8.3 × 10(-9)) OR = 0.36 CI-0.95 (0.25-0.52) and geographic atrophy (GA) (p = 1.5 × 10(-6)) OR = 0.36 CI-0.95 (0...Continue Reading

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Citations

Oct 12, 2013·Clinical & Experimental Ophthalmology·Paul N Baird, Subhabrata Chakrabarti
Aug 12, 2014·Biochemical and Biophysical Research Communications·Kuniko Horie-Inoue, Satoshi Inoue
Jul 16, 2016·BMC Medical Genetics·Shamik PolleyEdward J Hollox
Nov 15, 2017·The Kaohsiung Journal of Medical Sciences·Norshakimah Md BakriWan Alia Wan Sulaiman
Nov 9, 2017·Journal of the American Society of Nephrology : JASN·Perrine JullienNicolas Maillard
Aug 18, 2018·Frontiers in Immunology·Anna E van BeekKyra A Gelderman
Nov 30, 2018·PloS One·Fernanda Bueno BarbosaAguinaldo Luiz Simões
Nov 4, 2020·British Journal of Pharmacology·Rachel HeveyDaniel Ricklin

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Methods Mentioned

BETA
PCR
Electrophoresis
genotyping

Software Mentioned

GeneMapper
PLINK
QMPSF
BLAT

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