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Abstract #9123 Published in IGR 5-2
Analysis of the glutathione S-transferase M1 gene using pyrosequencing and multiplex PCR-no evidence of association to glaucoma
Jansson M;
Rada A;
Tomic L;
Larsson LI;
Wadelius CExperimental Eye Research 2003; 77: 239-243
The glutathione S-transferase M1 (GSTM1) gene is reported to be involved in glaucoma, an eye disease with a largely unknown mechanism. The gene is polymorphic and three alleles have been characterized. These are one complete deletion of the gene, GSTM10, and two alleles differing only in a single amino acid substitution, GSTM1A and B. The latter two alleles seem to have equivalent function. Approximately 45% of European populations are GSTM1 positive. An Estonian study has found that 60% of glaucoma patients are GSTM1 positive compared to 45% of controls (p = 0.002). The authors genotyped 200 primary open-angle glaucoma (POAG) patients, 188 exfoliative glaucoma patients, and 200 matched controls, using multiplex PCR and pyrosequencing. Forty-four percent of POAG patients and exfoliative glaucoma patients, and 44.5% of the matched controls, were GSTM1 positive. Using pyrosequencing, the authors were able to determine whether the patients were homo- or hemizygous for the GSTM1 gene. Five percent of POAG patients, 7.4% of exfoliative glaucoma patients, and 4.6% of controls were homozygous for the presence of the GSTM1 gene. There is no evidence of an association between GSTM1 and glaucoma in the Swedish population.
Classification:
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)