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J. A. Ayala-Haedo, S. M. Gerzenstein, J. C. Schiffman, D. L. Budenz, J. L. Davis, J. S. Schuman, S. G. Schwartz, L. M. Ventura, M. E. Fini, Miami Glaucoma Genetics Team; Association Between Beta 1 and Beta 2 Adrenergic Receptor Polymorphisms and Susceptibility to Primary Open Angle Glaucoma. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4035.
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It has been demonstrated that SNPs affect the activity and expression of beta adrenergic receptors. The +1165G/C (Arg389Gly) SNP in the Beta 1 adrenergic receptor gene has been reported to increase the risk of glaucoma. We hypothesized that additional SNPs in either the Beta 1 and Beta 2 adrenergic receptor gene might also increase the risk of primary open angle glaucoma (POAG).
We enrolled 189 Caucasian subjects for the study. The samples were studied using the iPLEX genotyping assay from Sequenom. For the Beta 1 adrenergic receptor gene we analyzed 63 POAG and 121 controls for the +145A/G (Ser49Gly) SNP and 36 POAG and 57 controls for the +1165G/C (Arg389Gly) SNP. For the Beta 2 Adrenergic receptor gene we analyzed 67 POAG and 122 controls for the eleven SNPs:-1429T/A, -1343G/A, -1023G/A, -654G/A, -468C/G,- 367T/C, -47T/C,-20C/T, +46G/A (Arg16Gly), +79C/G (Gln27Glu), +491C/T(Thr164Ile), using chi-square and logistic regression.
In the Beta 1 receptor gene, for the +145A/G SNP, the genotype AA was present in 68% of the POAG patients and 81% of the controls; genotype GA in 29% of the POAG patients and 19% of the controls; and GG in 3% of the POAG patients and none of the controls, (p=0.025). The frequency of each genotype was similar in POAG patients and controls for the +1165G/C SNP: CC in 53% POAG vs. 46% controls; GC in 8% POAG vs. 16% controls; and GG in 39% POAG vs. 39% controls (p=0.73). For all eleven SNPs in the Beta 2 receptor gene, the frequency of each genotype was remarkably similar in the POAG patients and normal controls: for six of the SNPs the frequency of each genotype was within 5% between POAG and controls; for four the frequency was within 10%; and for one the largest difference was 13% (p-values ranged from 0.22 to 0.97).
Our results support the hypothesis that the Beta 1 receptor gene polymorphism +145A/G, but not +1165G/C, is associated with POAG. We found no evidence of an association of POAG with any of the Beta 2 polymorphisms in this Caucasian population. In this pilot study, controls were not perfectly age-matched to patients; therefore we continue to enroll subjects before arriving to a final conclusion.
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