Beyond factor H: The impact of genetic-risk variants for age-related macular degeneration on circulating factor-H-like 1 and factor-H-related protein concentrations

著者: Valentina Cipriani, Anna Tierney, John R. Griffiths, Verena Zuber, Panagiotis I. Sergouniotis, John R.W. Yates, Anthony T. Moore, Paul N. Bishop, Simon J. Clark, Richard D. Unwin - The American Journal of Human Genetics 2021 被引用: 52

) when these individuals were compared to 252 controls, whereas no difference was seen for FH (p = 0.94). Genome-wide association analyses in controls revealed genome-wide-significant signals at the CFH locus for all five FHR proteins, and univariate Mendelian-randomization analyses strongly supported the association of FHR-1, FHR-2, FHR-4, and FHR-5 with AMD susceptibility. These findings provide a strong biochemical explanation for how genetically driven alterations in circulating FHR proteins could be major drivers of AMD and highlight the need for research into FHR protein modulation as a viable therapeutic avenue for AMD.