title: The major risk alleles of age-related macular degeneration (AMD) in CFH do not play a major role in rheumatoid arthritis (RA).
abstract: Because activation of the alternative pathway (AP) of the complement system is an important aspect of both age-related macular degeneration (AMD) and rheumatoid arthritis (RA), we wished to address the question whether genetic risk factors of the AP inhibitor complement factor H (CFH) for AMD would also be risk factors for RA. For this purpose we genotyped single nucleotide polymorphisms (SNPs) in a Dutch set of RA patients and controls. Similarly, a meta-analysis using a Spanish cohort of RA as well as six large genome-wide association studies (GWAS) studies was performed. For these SNPs we analysed more than 6000 patients and 20,000 controls. The CFH variants, I62V, Y402H, IVS1 and IVS10, known to associate strongly with AMD, did not show a significant association with the risk of developing RA despite a strong statistical power to detect such differences. In conclusion, the major risk alleles of AMD in CFH do not have a similar effect on developing RA.
authors: Department of Rheumatology, Leiden University Medical Center, Leiden, The Netherlands. l.a.trouw@lumc.nl
authors: L A
authors: LA
authors: Trouw
authors: S
authors: S
authors: Böhringer
authors: N A
authors: NA
authors: Daha
authors: E A
authors: EA
authors: Stahl
authors: S
authors: S
authors: Raychaudhuri
authors: F A
authors: FA
authors: Kurreeman
authors: G
authors: G
authors: Stoeken-Rijsbergen
authors: J J
authors: JJ
authors: Houwing-Duistermaat
authors: T W
authors: TW
authors: Huizinga
authors: R E
authors: RE
authors: Toes
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000235:genetics* / Q000276:immunology; D015331:Cohort Studies; D050578:Complement C3-C5 Convertases, Alternative Pathway; D017242:Complement Factor H / Q000235:genetics; D055106:Genome-Wide Association Study; D005838:Genotype; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000276:immunology; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C493495:CFH protein, human; D017242:Complement Factor H; D050578:Complement C3-C5 Convertases, Alternative Pathway