This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Aging/ Geriatrics  • Macular Degeneration  • Retinal/ Chorioretinal Disorders  • Articles for Residents  • Genetics  • Genetic Disorders  • Alert me on articles by topic  Social Bookmarking   What's this?

Strong Association With Complement Factor H

Daniela C. Ferrara, MD; Joanna E. Merriam, MD, PhD; K. Bailey Freund, MD; Richard F. Spaide, MD; Beatriz S. Takahashi, MD; Inna Zhitomirsky, BA; Howard F. Fine, MD; Lawrence A. Yannuzzi, MD; Rando Allikmets, PhD

Arch Ophthalmol. 2008;126(11):1562-1566.

Objective  To analyze the frequency of major age-related macular degeneration (AMD)-associated alleles in patients with multifocal choroiditis (MFC).

Methods  A cohort of 48 patients with MFC was compared with previously characterized cohorts of patients with advanced AMD (368 samples) and matched unaffected controls (368 samples). Allele and genotype frequencies of single nucleotide polymorphisms for the following AMD-associated alleles were evaluated: risk alleles in complement factor H (CFH) gene (Y402H and IVS14) and LOC387715/HTRA1 gene on 10q26 (A69S) and protective alleles in CFH (IVS1, IVS6, and delCFHR1-3) and complement factor B loci (H9L and R32Q).

Results  Frequencies of all major AMD-associated alleles in the CFH locus indicate a strong, statistically significant association of CFH gene single nucleotide polymorphisms and MFC. However, the same analysis for the single nucleotide polymorphisms in complement factor B and 10q26 loci matched the results in the control group.

Conclusions  Like AMD, the MFC phenotype is strongly associated with the major alleles/haplotypes in the CFH locus.

Clinical Relevance  We report compelling evidence of a strong association between CFH polymorphisms and MFC, which contributes to the understanding of MFC pathogenesis and suggests new potential therapeutic targets.

Author Affiliations: LuEsther T. Mertz Retinal Research Center (Drs Ferrara, Takahashi, and Yannuzzi); Departments of Ophthalmology (Drs Merriam, Fine, Yannuzzi, and Allikmets) and Pathology and Cell Biology (Dr Allikmets), Columbia University; Vitreous-Retina-Macula Consultants of New York (Drs Freund, Spaide, Fine, and Yannuzzi); and Department of Ophthalmology, New York University (Ms Zhitomirsky), New York, New York.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati     What's this?