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.
journal_name
Ophthalmologyjournal_title
Ophthalmologyauthors
Narayanan R,Butani V,Boyer DS,Atilano SR,Resende GP,Kim DS,Chakrabarti S,Kuppermann BD,Khatibi N,Chwa M,Nesburn AB,Kenney MCdoi
10.1016/j.ophtha.2006.10.035subject
Has Abstractpub_date
2007-07-01 00:00:00pages
1327-31issue
7eissn
0161-6420issn
1549-4713pii
S0161-6420(06)01473-4journal_volume
114pub_type
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