Association between open-angle glaucoma and gene polymorphism for heat-shock protein 70-1.
OBJECTIVE
Heat-shock proteins (HSPs) or antibodies against them may contribute to glaucomatous optic neuropathy. We investigated the associations of HSP70-1 polymorphisms with open-angle glaucoma (OAG) in a Japanese population.


METHODS
In 241 normal Japanese controls and 501 Japanese OAG patients, including 211 with primary open-angle glaucoma (POAG) and 290 with normal-tension glaucoma (NTG), two single-nucleotide polymorphisms, A-110C and G+190C, of HSP70-1 were identified by using an Invader assay and polymerase chain reaction-restriction fragment length polymorphism, respectively. Genotype distributions were compared between controls and OAG patients. Age at diagnosis, untreated maximum intraocular pressure, and visual field defects at diagnosis were examined for associations with the polymorphisms.


RESULTS
Distribution of the A-110C genotype (AA versus AC+CC) differed significantly between controls and OAG patients (P = 0.007), POAG patients (P = 0.007), or NTG patients (P = 0.032). The genotype distribution of the G+190C polymorphism did not differ significantly between the controls and any patient group. No significant differences in the clinical characteristics of the patients were detected between genotype-defined groups by logistic regression analysis.


CONCLUSIONS
The A-110C polymorphism of HSP70-1 may be associated with OAG pathogenesis in Japanese patients.
D000368:Aged; D005260:Female; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000175:diagnosis / Q000235:genetics*; D006068:Gonioscopy; D050884:HSP72 Heat-Shock Proteins / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D009901:Optic Nerve Diseases / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
D050884:HSP72 Heat-Shock Proteins