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Original Investigation | Ophthalmic Molecular Genetics

Growth of Geographic Atrophy on Fundus Autofluorescence and Polymorphisms of CFH, CFB, C3, FHR1-3, and ARMS2 in Age-Related Macular Degeneration

Josemaria Caire, MD1,2; Sergio Recalde, PhD1; Alvaro Velazquez-Villoria, MD1,2; Laura Garcia-Garcia, BS1; Nicholas Reiter, BS1; Jaouad Anter, PhD3; Patricia Fernandez-Robredo, PhD1; Alfredo García-Layana, MD, PhD2 ; for the Spanish Multicenter Group on AMD
[+] Author Affiliations
1Ophthalmology Experimental Laboratory, Universidad de Navarra, Pamplona, Spain
2Department of Ophthalmology, Clínica Universidad de Navarra, Pamplona, Spain
3Department of Cellular and Molecular Medicine, Centro de Investigaciones Biológicas and Ciber de Enfermedades Raras, Madrid, Spain
JAMA Ophthalmol. 2014;132(5):528-534. doi:10.1001/jamaophthalmol.2013.8175.
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Importance  Identification of the genetic risk factors that contribute to geographic atrophy (GA) could lead to advancements in interventional trials and/or therapeutic approaches for combating vision loss.

Objective  To investigate whether single-nucleotide polymorphisms (SNPs) are associated with the presence and progression of established GA in age-related macular degeneration (AMD).

Design, Setting, and Participants  Prospective, controlled, multicenter study of 154 patients with GA/AMD and 141 age-matched control participants at 8 Spanish hospitals.

Main Outcomes and Measures  Samples of DNA were collected to analyze SNPs within AMD-related genes (CFH, CFB, C3, FHR1-3, and ARMS2). Fundus autofluorescence imaging was used to evaluate GA progression during a 2-year period in 73 patients with GA/AMD. Finally, logistic regression was used to analyze the associations of SNPs, age, body mass index, and cigarette smoking with the rate of progression and relative growth of GA.

Results  This case-control analysis revealed a significant (P < .05) association between the presence of GA and SNPs within CFH, ARMS2, and FHR1-3. Moreover, logistic regression analysis identified significant associations of the rate of progression with genetic polymorphisms (CFH-402His [P = .04] and CFH-62Ile [P = .04]) and demographic factors (sex [P = .02] and age [P = .02]), whereas relative growth was associated with 1 polymorphism (CFB-32Gln [P = .04]).

Conclusions and Relevance  Taken together, our findings confirm that genetic risk factors related to the presence of GA are not identical to those associated with GA progression. In fact, we demonstrate that gene variants of CFH and CFB, as well as demographic risk factors, confer significant risk for GA progression (both rate of progression and relative growth) within a Spanish population.

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Fundus Autofluorescence Images at 0 and 24 Months

Fundus autofluorescence images were taken at 0 months (A) and 24 months (B). The geographic atrophy area was selected and measured to analyze the geographic atrophy progression.

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