Genetic variation in complement regulators and susceptibility to age-related macular degeneration

Autor: Alan F. Wright, Valentina Cipriani, David Clayton, Baljinder K Matharu, Humma Shahid, John R.W. Yates, Catey Bunce, Chloe M. Stanton, Caroline Hayward, Anthony T. Moore, Jane C. Khan
Jazyk: angličtina
Rok vydání: 2012
Předmět:
Male
Aging
genetic structures
DAF
decay accelerating factor
Macular Degeneration
0302 clinical medicine
DNA
deoxyribonucleic acid
Immunology and Allergy
AMD
age-related macular degeneration
Complement regulators
Genetics
Aged
80 and over
0303 health sciences
CNV
choroidal neovascularisation
CD55 Antigens
MCP
membrane cofactor protein
Hematology
SNP
single nucleotide polymorphism
3. Good health
Complement (complexity)
MAC
membrane attack complex
Female
RPE
retinal pigment epithelium
Genotype
Immunology
Complement
CD59 Antigens
Complement factor I
Biology
CFH
complement factor H
MAF
minor allele frequency
Polymorphism
Single Nucleotide
Article
Membrane Cofactor Protein
03 medical and health sciences
Genetic variation
medicine
Humans
Genetic Predisposition to Disease
Genetic Association Studies
030304 developmental biology
Genetic association
Aged
Properdin
CD46
HWE
Hardy–Weinberg equilibrium
Age-related macular degeneration
CPI
complement factor I
CFB
complement factor B
Complement System Proteins
Macular degeneration
medicine.disease
eye diseases
Complement system
Single nucleotide polymorphism
CI
confidence interval
OR
odds ratio
GA
geographic atrophy
Case-Control Studies
030221 ophthalmology & optometry
sense organs
CFP
complement factor P
ARM
age-related maculopathy
Zdroj: Immunobiology
Cipriani, V, Matharu, B K, Khan, J C, Shahid, H, Stanton, C M, Hayward, C, Wright, A F, Bunce, C, Clayton, D G, Moore, A T & Yates, J R W 2012, ' Genetic variation in complement regulators and susceptibility to age-related macular degeneration ', Immunobiology, vol. 217, no. 2, pp. 158-61 . https://doi.org/10.1016/j.imbio.2011.09.002
ISSN: 1878-3279
0171-2985
DOI: 10.1016/j.imbio.2011.09.002
Popis: ObjectivesAge-related macular degeneration (AMD) is the commonest cause of blindness in Western populations. Risk is influenced by age, genetic and environmental factors. Complement activation appears to be important in the pathogenesis and associations have been found between AMD and genetic variations in complement regulators such as complement factor H. We therefore investigated other complement regulators for association with AMD.MethodsWe carried out a case–control study to test for association between AMD and single nucleotide polymorphisms (SNPs) spanning the genes encoding complement factor P (CFP, properdin), CD46 (membrane cofactor protein, MCP), CD55 (decay accelerating factor, DAF) and CD59 (protectin). All cases and controls were examined by an ophthalmologist and had independent grading of fundus photographs to confirm their disease status.Results20 SNPs were genotyped in 446 cases and 262 controls. For two SNPs with p-values approaching significance additional subjects were genotyped to increase the numbers to 622 cases and 359 controls. There was no evidence of association between AMD and any of the SNPs typed in CFP, CD46, CD55 or CD59.ConclusionsIn a case–control sample that has shown the well established associations between AMD and variants in CFH, CFB and C3 there was absence of association with SNPs in CFP, CD46, CD55 and CD59. This suggests that these are not important susceptibility genes for AMD.
Databáze: OpenAIRE
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