Complement factor H 402H variant and reticular macular disease

54Citations
Citations of this article
38Readers
Mendeley users who have this article in their library.

This article is free to access.

Abstract

Objective: To determine the association of high-risk alleles in the complement factor H (CFH; Y402H, rs1061170) and age-related maculopathy susceptibility (ARMS2; A69S, rs10490924) genes with reticular macular disease (RMD), a major clinical subphenotype of age-related macular degeneration (AMD). Methods: Using retinal images from the Columbia Macular Genetics Study, we identified 67 subject individuals with RMD. A comparison group of 64 subjects with AMD without RMD was matched by ethnicity, age, sex, and AMD clinical stage. Results: In the RMD group, 53 of 67 subjects (79.1%) were female, the mean age was 83 years, and 47 of 67 (70.1%) had late AMD, with closely matched values in the non-RMD group. The frequencies of the CFH 402H allele were 39.6% in the RMD group (53 of 134 individuals) and 58.6% in the non-RMD group (75 of 128 individuals) (χ2=8.8; P=.003; odds ratio, 0.46 [95% confidence interval, 0.28-0.76]). The corresponding frequencies of the risk allele for ARMS2 were 44.0% (40 of 128 individuals) and 31.3% (40 of 128 individuals), respectively (χ2=4.0; P=.045; odds ratio, 1.73 [95% confidence interval, 1.04-2.90]). Homozygosity for 402Hwas particularly associated with the absence of RMD, occurring in 8 of 67 subjects (11.9%) with RMD vs 24 of 64 subjects (37.5%) without RMD (P

References Powered by Scopus

Complement factor H polymorphism in age-related macular degeneration

3816Citations
N/AReaders
Get full text

Complement factor H polymorphism and age-related macular degeneration

2192Citations
N/AReaders
Get full text

Complement factor H variant increases the risk of age-related macular degeneration

2187Citations
N/AReaders
Get full text

Cited by Powered by Scopus

Morphology, prevalence, topography, and biogenesis model

334Citations
N/AReaders
Get full text

Subretinal drusenoid deposits AKA pseudodrusen

214Citations
N/AReaders
Get full text

Prevalence and genomic association of reticular pseudodrusen in age-related macular degeneration

112Citations
N/AReaders
Get full text

Register to see more suggestions

Mendeley helps you to discover research relevant for your work.

Already have an account?

Cite

CITATION STYLE

APA

Smith, R. T., Merriam, J. E., Sohrab, M. A., Pumariega, N. M., Barile, G., Blonska, A. M., … Allikmets, R. (2011). Complement factor H 402H variant and reticular macular disease. Archives of Ophthalmology, 129(8), 1061–1066. https://doi.org/10.1001/archophthalmol.2011.212

Readers' Seniority

Tooltip

PhD / Post grad / Masters / Doc 16

57%

Professor / Associate Prof. 6

21%

Researcher 4

14%

Lecturer / Post doc 2

7%

Readers' Discipline

Tooltip

Medicine and Dentistry 20

71%

Agricultural and Biological Sciences 5

18%

Biochemistry, Genetics and Molecular Bi... 2

7%

Computer Science 1

4%

Save time finding and organizing research with Mendeley

Sign up for free