Complement factor H gene polymorphisms and Chlamydia pneumoniae infection in age-related macular degeneration.
OBJECTIVE
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 chi (2)-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.
Haas
P
P
Department of Ophthalmology, Rudolf Foundation Clinic, Ludwig Boltzmann Institute for Retinology and Biomicroscopic Lasersurgery, Vienna, Austria. paulina.haas@wienkav.at
Steindl
K
K
Schmid-Kubista
K E
KE
Aggermann
T
T
Krugluger
W
W
Hageman
G S
GS
Binder
S
S
D000368:Aged; D000369:Aged, 80 and over; D000907:Antibodies, Bacterial / Q000097:blood; D001317:Austria; D016022:Case-Control Studies; D023521:Chlamydophila Infections / Q000150:complications* / Q000276:immunology; D016993:Chlamydophila pneumoniae / Q000276:immunology; D017242:Complement Factor H / Q000235:genetics; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D007074:Immunoglobulin G / Q000097:blood; D016015:Logistic Models; D008268:Macular Degeneration / Q000235:genetics* / Q000276:immunology / Q000382:microbiology*; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic
D000907:Antibodies, Bacterial; C493495:CFH protein, human; D007074:Immunoglobulin G; D017242:Complement Factor H