Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration | Zendy

Michael Triebwasser | Zendy; Elisha Roberson | Zendy; Yi Yu | Zendy; Elizabeth C. Schramm | Zendy; Erin K. Wagner | Zendy; Soumya Raychaudhuri | Zendy; Johanna M. Seddon | Zendy; John Atkinson | Zendy

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Rare Variants in the Functional Domains of Complement Factor H Are Associated With Age-Related Macular Degeneration

Author(s) -

Michael Triebwasser,

Elisha Roberson,

Yi Yu,

Elizabeth C. Schramm,

Erin K. Wagner,

Soumya Raychaudhuri,

Johanna M. Seddon,

John Atkinson

Publication year - 2015

Publication title -

investigative ophthalmology and visual science

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.935

H-Index - 218

eISSN - 1552-5783

pISSN - 0146-0404

DOI - 10.1167/iovs.15-17432

Subject(s) - minor allele frequency , macular degeneration , missense mutation , genetics , odds ratio , allele , factor h , genome wide association study , attributable risk , haploinsufficiency , allele frequency , biology , complement factor i , population , medicine , single nucleotide polymorphism , genotype , mutation , gene , complement system , ophthalmology , phenotype , antibody , environmental health

Age-related macular degeneration (AMD) has a substantial genetic risk component, as evidenced by the risk from common genetic variants uncovered in the first genome-wide association studies. More recently, it has become apparent that rare genetic variants also play an independent role in AMD risk. We sought to determine if rare variants in complement factor H (CFH) played a role in AMD risk.

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