Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration

By B. Gold, J. Merriam, J. Zernant, L. Hancox, Andrew J Taiber, K. Gehrs, Kevin E. Cramer, J. Neel, J. Bergeron, G. Barile and 5 more. Nature Genetics, 2006

1,133 citations recorded by the source corpus.

Subfields: Immunology, Ophthalmology, Radiology, Nuclear Medicine and Imaging

View Paper: https://www.semanticscholar.org/paper/d3c43126ba3c72d728f7efc3e8dcd907c497ee02

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Immunology

1. John P. A. Ioannidis
2. P. Zipfel
3. C. Skerka

In Ophthalmology

1. Don H. Anderson
2. L. V. Johnson
3. G. Hageman
4. Emily Y. Chew
5. Baljean Dhillon

In Radiology, Nuclear Medicine and Imaging

1. L. V. Johnson
2. John P. A. Ioannidis
3. Ann-Christine Syvänen
4. Emily Y. Chew
5. Baljean Dhillon
6. Hreinn Stefansson
7. Don H. Anderson
8. G. Hageman

Citations in the corpus

• Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration (2006, background): “Very recently, common variation in the gene locus containing the C2 and CFB (also called BF ) genes (encoding complement component 2 and complement factor B, respectively) was reported to be associated with risk of AM”
• Age‐related macular degeneration—emerging pathogenetic and therapeutic concepts (2006, background): “In early 2006, allelic variants in two other complement-related genes, Factor B (BF) and complement component C2, were linked to AMD (228).”
• The Impact of Oxidative Stress and Inflammation on RPE Degeneration in Non-neovascular AMD (2017, background): “…in other complement pathway genes that influence the risk for AMD were identified such as C3 (rs2230199), factor I (rs10033900), and the C2/factor B locus (rs9332739, rs547154, rs4151667, and rs641153) (Fagerness et al., 2009; Gold et al., 2006; Spencer et al., 2007; Yates et al., 2007).”
• A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus (2009, background): “We also observed an association of SLE with a missense allele (R32Q) of CFB (complement factor B, rs641153) that resides in the HLA class III region and is a validated risk allele for age-related macular degeneratio”
• Complement regulators and inhibitory proteins (2009, background): “The affected genes encode C3 and factor B (the two components of C3 convertase) or the regulators of C3 convertase factor H, CD46 and factor I”
• Seven New Loci Associated with Age-Related Macular Degeneration (2013, background): “-Erich Wichmann [110,111,112,113], Thomas W Winkler [114], Tien Y Wong [24,34,35], Alan F Wright [115], Diana Zelenika [116], Li Zhang [56,64,117], Ling Zhao [56,64], Kang Zhang [56,64,117], Michael L Klein [26], Gregory S Hageman [88,118], G Mark Lathrop [71,116], Kari Stefansson [8,102], Rando All”
• The Pivotal Role of the Complement System in Aging and Age-related Macular Degeneration: Hypothesis Re-visited (2009, positive): “…and sequence variants of several complement pathwayassociated genes including: Complement factor H (CFH) (Edwards et al., 2005; Hageman et al., 2005; Haines et al., 2005; Klein et al., 2005), complement factor B (CFB) and complement component 2 (C2) (Gold et al., 2006; Jakobsdottir et al., 2008).”