we demonstrated that the complement factor B genes rs641153 and rs4151667 but not rs1048709 rs2072633 rs12614 were associated with the susceptibility of age-related macular degeneration and might play predictive roles in future age-related macular degeneration diagnosis.
Heterozygous variants in the CFB gene can be pathogenic and associated with immune-complex diffuse membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome
target sequencing of age-related macular degeneration (AMD) susceptibility genes identified enrichment of low-frequency coding variants in CETP C2 and CFB are associated with AMD susceptibility in the Japanese population
These results suggest (i) apparent allelic heterogeneity in CFB and genetic heterogeneity in SLC44A4 across different ethnic groups; (ii) shared ulcerative colitis genetic etiological factors among Asians
There is a link between phenotype BF SS07 and allotype BF*S07 with aCl-IgM in systemic lupus erythematosus patients; BF*F allotype could be considered a marker of protection against the development of antiphospholipid antibodies in these patients.
These results suggest that a maternal immune response through complement fB might play a role in the development of preeclampsia particularly in African-American patients.
ARMS2 and C3 are major contributors to advanced age-related macular degeneration in Mexican patients while the contributions of CFH C2 and CFB are minor to those of other populations.
The CFB (R32Q) polymorphism was associated with age-related macular degeneration characterized by small drusen only and appeared to be protective of large drusen.
CFH ARMS2 and CFB AMD-risk alleles are consistently associated with the disease even in ethnic groups with a complex admixture of ancestral populations such as Mexican mestizos.
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