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Ophthalmology. 2007 Jul;114(7):1327-31. Epub 2007 Feb 16.

Complement factor H polymorphism in age-related macular degeneration.

Author information

1
Department of Ophthalmology, University of California Irvine Medical Center, Irvine, California, USA.

Abstract

PURPOSE:

To determine the association between complement factor H (CFH) polymorphism T1277C (tyrosine-402 --> histidine-402) and phenotypic variations of age-related macular degeneration (AMD).

DESIGN:

Cross-sectional observational study.

PARTICIPANTS:

Subjects with dry or wet AMD and a control population consisting of age-matched non-AMD subjects from 2 clinical facilities examined during the period January 1, 1999 through December 31, 2002.

METHODS:

Total DNA isolated from the leukocytes of 66 AMD subjects and 58 age-matched control subjects was studied. The CFH gene was amplified by polymerase chain reaction and analyzed by Nla III restriction fragment length analysis.

MAIN OUTCOME MEASURES:

Incidence of CHF polymorphism with the occurrence of AMD.

RESULTS:

Among the AMD patients, 15 had dry and 51 had wet AMD. For the CFH gene, the T1277C variant showed the genotype distribution as CC, TC, and TT. There was a strong association between homozygous C and AMD compared with the control population (odds ratio [OR] = 3.4; 95% confidence interval [CI], 1.32-8.74; P = 0.0053). Furthermore, dry AMD had a stronger association (OR, 8.32; 95% CI, 2.30-30.11; P = 0.001) than wet AMD (OR, 2.49; 95% CI, 0.90-6.84; P = 0.039) compared with the control population. Homozygous T was more prevalent in the control subjects compared with AMD patients (OR, 5; 95% CI, 2.18-11.43; P = 0.00005).

CONCLUSIONS:

Complement factor H polymorphism T1277C (tyrosine-402 --> histidine-402) is strongly associated with both dry and wet AMD and points to a possible role for inflammation in the pathogenesis of AMD.

PMID:
17306880
DOI:
10.1016/j.ophtha.2006.10.035
[Indexed for MEDLINE]

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