title: Familial aggregation of age-related macular degeneration in the Utah population.
abstract: We examined familial aggregation and risk of age-related macular degeneration in the Utah population using a population-based case-control study. Over one million unique patient records were searched within the University of Utah Health Sciences Center and the Utah Population Database (UPDB), identifying 4764 patients with AMD. Specialized kinship analysis software was used to test for familial aggregation of disease, estimate the magnitude of familial risks, and identify families at high risk for disease. The population-attributable risk (PAR) for AMD was calculated to be 0.34. Recurrence risks in relatives indicate increased relative risks in siblings (2.95), first cousins (1.29), second cousins (1.13), and parents (5.66) of affected cases. There were 16 extended large families with AMD identified for potential use in genetic studies. Each family had five or more living affected members. The familial aggregation of AMD shown in this study exemplifies the merit of the UPDB and supports recent research demonstrating significant genetic contribution to disease development and progression.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Moran Eye Center, University of Utah School of Medicine, Salt Lake City, UT 84132, USA.
authors.forename: Ling
authors.initials: L
authors.lastname: Luo
authors.forename: Jennifer
authors.initials: J
authors.lastname: Harmon
authors.forename: Xian
authors.initials: X
authors.lastname: Yang
authors.forename: Haoyu
authors.initials: H
authors.lastname: Chen
authors.forename: Shrena
authors.initials: S
authors.lastname: Patel
authors.forename: Geraldine
authors.initials: G
authors.lastname: Mineau
authors.forename: Zhenglin
authors.initials: Z
authors.lastname: Yang
authors.forename: Ryan
authors.initials: R
authors.lastname: Constantine
authors.forename: Jeanette
authors.initials: J
authors.lastname: Buehler
authors.forename: Yuuki
authors.initials: Y
authors.lastname: Kaminoh
authors.forename: Xiang
authors.initials: X
authors.lastname: Ma
authors.forename: Tien Y
authors.initials: TY
authors.lastname: Wong
authors.forename: Maonian
authors.initials: M
authors.lastname: Zhang
authors.forename: Kang
authors.initials: K
authors.lastname: Zhang
mesh_terms: D004812:Epidemiologic Methods; D015785:Eye Diseases, Hereditary / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008268:Macular Degeneration / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014589:Utah / Q000453:epidemiology