Abstract
Purpose
To investigate the association of the complement factor H gene (CFH)Y402H polymorphism and age-related macular degeneration (AMD) in the Austrian population (Caucasoid descent), and to determine whether there is an association between exposure to Chlamydia pneumoniae—responsible for up to 20% of community-acquired pneumoniae—and the AMD-associated CFHrisk polymorphism.
Methods
Genotypes were determined by polymerase chain reaction-restriction fragment length polymorphism analysis in 75 unrelated AMD patients and compared with 75 healthy, age-matched control subjects. C. pneumoniaeserum IgG was tested by ELISA (R&D) in both groups. The association between the CFHY402H genetic polymorphism and the disease was examined by χ2-test and logistic regression.
Results
CFH Y402H genotypefrequencies differed significantly between AMD patients and healthy controls (1277 TT, 22.7%; 1277 TC, 53.3%; and 1277 CC, 22.7% in the AMD group; 1277 TT, 48.0%; 1277 TC, 38.7%; and 1277 CC, 13.3% in the control group) showing a P-value <0.005 (OR:2.920/3.811).
No association was found between a positive C. pneumoniae titre and AMD (P=0.192), nor was any association found between C. pneumoniae and the CFH Y402H polymorphism.
Conclusions
Our data confirm that the CFHY402H polymorphism is a risk factor for AMD in the Austrian population with a higher frequency of the Y402 polymorphism in AMD patients. No association between preceding C. pneumoniaeinfection and diagnosed AMD was found.
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This study was supported by the Bürgermeisterfond, Vienna, Austria
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Haas, P., Steindl, K., Schmid-Kubista, K. et al. Complement factor H gene polymorphisms and Chlamydia pneumoniae infection in age-related macular degeneration. Eye 23, 2228–2232 (2009). https://doi.org/10.1038/eye.2008.422
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DOI: https://doi.org/10.1038/eye.2008.422


