rs4151667

This is a protein-altering variant in the CFB gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

properdin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.33
p 5.0e-152
N 47,745
Large GWAS
European

complement factor B measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 0.910
p 6.0e-53
N 3,301
Large GWAS
European
Thareja G et al. “Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.” Human Molecular Genetics 32(6):907-916 (2023)
Allele A
OR 1.01
p 1.0e-31
N 2,935
Large GWAS
Greater Middle Eastern (Middle Eastern, North African or Persian)
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ClinVar annotation

Pathogenic★★★☆
17 submitters6 publications

Age related macular degeneration 14; Atypical hemolytic-uremic syndrome; Atypical hemolytic-uremic syndrome with B factor anomaly; CFB-related disorder; Complement component 2 deficiency (C2D); Complement factor b deficiency; Macular degeneration; not specified

View on ClinVar →
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Research that mentions this SNP (2)

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Single-Nucleotide Polymorphisms Associated With Age-Related Macular Degeneration and Lesion Phenotypes in the Comparison of Age-Related Macular Degeneration Treatments Trials
AssociationN=835Maureen G. Maguire et al.(2016)· JAMA Ophthalmology

Cross-sectional study of 835 CATT participants with neovascular AMD genotyped for SNPs in CFH, ARMS2, C3, LIPC, CFB, and C2. ARMS2 risk alleles were associated with larger total lesions (p=0.03) and increased intraretinal fluid (p=0.008); C3 risk alleles were associated with decreased intraretinal fluid (p=0.001) and retinal thickness (p=0.02); CFH risk alleles were associated with decreased total thickness (p=0.01).

Traits studied:Age-related macular degenerationChoroidal neovascularization phenotypesNeovascular AMDRetinal angiomatous proliferation
PubMedDOIMetascience Observatory
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Neovascular Age-Related Macular Degeneration and Its Association With LOC387715 and Complement Factor H Polymorphism
AssociationN=222Shuler RK Jr et al.(2007)· Archives of Ophthalmology

A case-control study investigating whether AMD-associated genetic variants predict treatment response. In 170 dry AMD patients treated with antioxidant supplements, CFH Y402H (rs1061170) carriers had significantly lower response rates (51.7% heterozygous/homozygous vs 75% wild-type, p=0.005), while protective variants in C2 (rs9332739) and CFB (rs4151667, rs2072633) showed improved response. In 52 neovascular AMD patients treated with ranibizumab, ARMS2 A69S (rs10490924) carriers had worse outcomes (46.4% responders vs 87.5% wild-type, p=0.002).

Traits studied:Age-related macular degeneration (dry)Age-related macular degeneration (neovascular)Anti-VEGF therapy responseAntioxidant supplement response
PubMedDOIMetascience Observatory

About CFB

This gene encodes complement factor B, a component of the alternative pathway of complement activation. Factor B circulates in the blood as a single chain polypeptide. Upon activation of the alternative pathway, it is cleaved by complement factor D yielding the noncatalytic chain Ba and the catalytic subunit Bb. The active subunit Bb is a serine protease which associates with C3b to form the alternative pathway C3 convertase. Bb is involved in the proliferation of preactivated B lymphocytes, while Ba inhibits their proliferation. This gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6. This cluster includes several genes involved in regulation of the immune reaction. Polymorphisms in this gene are associated with a reduced risk of age-related macular degeneration. The polyadenylation site of this gene is 421 bp from the 5' end of the gene for complement component 2. [provided by RefSeq, Jul 2008]

View all CFB variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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