RGD Reference Report - Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians. - Rat Genome Database

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Polymorphic glutathione S-transferase M1 is a risk factor of primary open-angle glaucoma among Estonians.

Authors: Juronen, E  Tasa, G  Veromann, S  Parts, L  Tiidla, A  Pulges, R  Panov, A  Soovere, L  Koka, K  Mikelsaar, AV 
Citation: Juronen E, etal., Exp Eye Res. 2000 Nov;71(5):447-52.
RGD ID: 7488947
Pubmed: PMID:11040079   (View Abstract at PubMed)
DOI: DOI:10.1006/exer.2000.0899   (Journal Full-text)

Primary open-angle glaucoma, the most common form of glaucoma is a slowly progressive atrophy of the optic nerve, characterized by loss of peripheral visual function and is usually associated with elevated intraocular pressure. The etiology and genetic risk factors of primary open-angle glaucoma are mostly unknown. The aim of this study was to find out whether the polymorphism at GSTM1, GSTM3, GSTT1 and GSTP1 loci is associated with increased susceptibility to glaucoma, because these polymorphic enzymes are susceptibility candidates for several diseases, including such eye disease as cataract. The phenotype of GSTM1 and GSTT1 was determined by ELISA and the genotype of GSTM3 and GSTP1 was detected by polymerase chain reaction. Four hundred and fifty two Estonians (250 glaucomas and 202 controls) participated in a case-control study. A significant association of the GSTM1 polymorphism with glaucoma was observed. The frequency of the GSTM1 positive individuals among the glaucoma group was significantly higher than in controls (60 vs. 45.0%) with odds ratio of 1.83 (95% CI 1.26-2.66;P = 0.002). The risk among the GSTM1 positive individuals of developing glaucoma was even higher in the case of smoking: 62.7% of smokers were GSTM1 positive in the glaucoma group while only 33.3% of smokers had GSTM1 positive phenotype in controls (OR = 3.36; 95% CI 1.49-7.56;P = 0.012). An association with a lower level of significance was also found with the GSTM3 gene. Four% of the 250 patients with POAG were identified as carriers of the GSTM3 BB genotype, a proportion which was slightly higher than the 1.0% for the controls (OR = 4.17; 95% CI 0. 90-19.24;P = 0.144). The frequencies of the GSTT1 and GSTP1 genotypes in both groups were not statistically different. The present study suggests that the GSTM1 polymorphism may be associated with increased risk of development of primary open-angle glaucoma.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
primary open angle glaucoma susceptibilityIAGP 7488947DNA:deletion:cds (human)RGD 
primary open angle glaucoma susceptibilityISOGSTM1 (Homo sapiens)7488947; 7488947DNA:deletion:cds (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Increased cup-to-disc ratio susceptibilityIAGP 7488947DNA:deletion:cdsRGD 
Ocular hypertension susceptibilityIAGP 7488947DNA:deletion:cdsRGD 
Visual field defect susceptibilityIAGP 7488947DNA:deletion:cdsRGD 
Objects Annotated

Genes (Rattus norvegicus)
Gstm1  (glutathione S-transferase mu 1)

Genes (Mus musculus)
Gstm1  (glutathione S-transferase, mu 1)

Genes (Homo sapiens)
GSTM1  (glutathione S-transferase mu 1)

Objects referenced in this article
Gene Gstm2 glutathione S-transferase, mu 2 Mus musculus
Gene Gstm2 glutathione S-transferase mu 2 Rattus norvegicus

Additional Information