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J. Clin. Med. 2015, 4(2), 304-317; doi:10.3390/jcm4020304

Association of OCT-Derived Drusen Measurements with AMD-Associated Genotypic SNPs in the Amish Population

1
Department of Ophthalmology, University of Pennsylvania, 313B Stellar-Chance Labs, 422 Curie Blvd., Philadelphia, PA 19104, USA
2
Doheny Eye Institute, Los Angeles, CA 90033, USA
3
Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo 09920, Brazil
4
Center for Preventive Ophthalmology and Biostatistics, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
5
Department of Ophthalmology, Keck School of Medicine of the University of Southern California, Los Angeles, CA 90033, USA
*
Author to whom correspondence should be addressed.
Academic Editors: Lindsay Farrer and Margaret DeAngelis
Received: 23 December 2014 / Revised: 23 December 2014 / Accepted: 13 January 2015 / Published: 12 February 2015
(This article belongs to the Special Issue Age-Related Macular Disease)
View Full-Text   |   Download PDF [129 KB, uploaded 12 February 2015]

Abstract

Purpose: To investigate the association of optical coherence tomography (OCT)-derived drusen measures in Amish age-related macular degeneration (AMD) patients with known loci for macular degeneration. Methods: Members of the Old Order Amish community in Pennsylvania ages 50 and older were assessed for drusen area, volume and regions of retinal pigment epithelium (RPE) atrophy using a Cirrus High-Definition OCT. Measurements were obtained in the macula region within a central circle (CC) of 3 mm in diameter and a surrounding perifoveal ring (PR) of 3 to 5 mm in diameter using the Cirrus OCT RPE analysis software. Other demographic information, including age, gender and smoking status, were collected. Study subjects were further genotyped to determine their risk for the AMD-associated SNPs in the SYN3, LIPC, ARMS2, C3, CFB, CETP, CFI and CFH genes using TaqMan genotyping assays. The association of genotypes with OCT measures were assessed using linear trend p-values calculated from univariate and multivariate generalized linear models. Results: 432 eyes were included in the analysis. Multivariate analysis (adjusted by age, gender and smoking status) confirmed the known significant association between AMD and macular drusen with the number of CFH risk alleles for the drusen area (the area increased 0.12 mm2 for a risk allele increase, p < 0.01), drusen volume (the volume increased 0.01 mm3 for a risk allele increase, p ≤ 0.05) and the area of RPE atrophy (the area increased 0.43 mm2 for a risk allele increase, p = 0.003). SYN3 risk allele G is significantly associated with larger area PR (the area increased 0.09 mm2 for a risk allele increase, p = 0.03) and larger drusen volume in the central circle (the volume increased 0.01 mm3 for a risk allele increase, p = 0.04). Conclusion: Among the genotyped SNPs tested, the CFH risk genotype appears to play a major role in determining the drusen phenotype in the Amish AMD population. View Full-Text
Keywords: age-related macular degeneration; AMD; Older Order Amish; CFH; SYN3; OCT; drusen area; drusen volume; RPE atrophy; Cirrus HD-OCT age-related macular degeneration; AMD; Older Order Amish; CFH; SYN3; OCT; drusen area; drusen volume; RPE atrophy; Cirrus HD-OCT
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Chavali, V.R.M.; Diniz, B.; Huang, J.; Ying, G.-S.; Sadda, S.R.; Stambolian, D. Association of OCT-Derived Drusen Measurements with AMD-Associated Genotypic SNPs in the Amish Population. J. Clin. Med. 2015, 4, 304-317.

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