[CFH gene polymorphism in primary open-angle glaucoma patients]

to study the CFH T402H polymorphism in glaucoma patients and controls.

Genetic analysis was performed in 68 patients with primary open-angle glaucoma (POAG) of various severity. The control group consisted of 30 participants. Venous whole blood samples were obtained. From them, leukocytes were isolated and human genomic DNA extracted for further PCR.

None of the patients from either group was homozygous for the 402H allele. With ganglion cells death (i.e. at later stages of the disease), the percentage of homozygotes that carry no CFH polymorphism increases up to 65%, while that of heterozygotes decreases down to 35%.

As shown, most of early and advanced POAG patients are heterozygotes. At these stages of the disease own ganglion cells are very likely to be damaged. Further progression, however, is associated with a gradual decrease in heterozygotes (down to 35%) due to a substantial loss of neuroepithelial cells and suppression of the autoimmune response which has lost its target.