Ontology highlight
ABSTRACT:
SUBMITTER: Cipriani V
PROVIDER: S-EPMC7005798 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Cipriani Valentina V Lorés-Motta Laura L He Fan F Fathalla Dina D Tilakaratna Viranga V McHarg Selina S Bayatti Nadhim N Acar İlhan E İE Hoyng Carel B CB Fauser Sascha S Moore Anthony T AT Yates John R W JRW de Jong Eiko K EK Morgan B Paul BP den Hollander Anneke I AI Bishop Paul N PN Clark Simon J SJ
Nature communications 20200207 1
Age-related macular degeneration (AMD) is a leading cause of blindness. Genetic variants at the chromosome 1q31.3 encompassing the complement factor H (CFH, FH) and CFH related genes (CFHR1-5) are major determinants of AMD susceptibility, but their molecular consequences remain unclear. Here we demonstrate that FHR-4 plays a prominent role in AMD pathogenesis. We show that systemic FHR-4 levels are elevated in AMD (P-value = 7.1 × 10<sup>-6</sup>), whereas no difference is seen for FH. Furthermo ...[more]