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Seigo Yoneyama, Yoichi Sakurada, Wataru Kikushima, Atsushi Sugiyama, Naohiko Tanabe, Fumihiko Mabuchi, Hiroyuki Iijima; Prevalence and genetic characteristics of patients with family history in exudative age-related macular degeneration. Invest. Ophthalmol. Vis. Sci. 2016;57(12):2625.
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© 2017 Association for Research in Vision and Ophthalmology.
To investigate the prevalence and genetic characteristics of patients with family history in exudative age-related macular degeneration (AMD).
We studied the family history in consecutive 640 patients with exudative AMD including typical neovascular AMD and polypoidal choroidal vasculopathy. Patients with family history were defined by interview as those having one or more of patients affected by AMD among their family members including siblings and parents. Genetic variants of ARMS2 (rs10490924), CFH (rs800292), SKIV2L (rs429608) and C3 (rs2241394) were investigated in the subjects and in 205 controls using TaqMan technology.
Prevalence of family history was 3% (19 patients). Odds ratio (OR) of ARMS2 (T allele), CFH (G allele), SKIV2L (A allele) and C3 (G allele) was 3.1, 2.0, 0.53 and 0.73 respectively. The product of ORs for eight genetic polymorphisms was significantly higher in AMD group than in controls (14.6 vs 5.8, p = 2.3 × 10-21). The product of ORs for eight genetic polymorphisms was significantly higher in AMD patients with family history than in AMD patients without family history (22.0 vs 14.4, p = 0.009). Of patients with unilateral involvement at initial visit, onset age was significantly younger in patients with family history than in patients without family history group. (p < 0.05, Mann-Whitney U test).
The common risk alleles investigated in the present study may contribute to familial occurrence of exudative AMD.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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