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Abstract #16773 Published in IGR 9-1
Evaluation of the β2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations
McLaren N; Reed DM; Musch DC; Downs CA; Higashi ME; Santiago C; Radenbaugh PA; Allingham RR; Richards JE; Moroi SEArchives of Ophthalmology 2007; 125: 105-111
OBJECTIVE: To determine whether the β2 -adrenergic receptor (ADRB2) gene is a glaucoma susceptibility locus. DESIGN AND METHODS: The design was an association study stratified by ancestry (white vs black African) and disease (primary open-angle glaucoma vs control subjects). The ADRB2 single nucleotide polymorphisms were determined by sequencing, and the haplotypes of the common single nucleotide polymorphisms affecting codons 16 and 27 were phased by allele-specific polymerase chain reaction and restriction enzyme digestion. We analyzed the association of single nucleotide polymorphisms and haplotypes by ancestry and disease with the Fisher exact test, chi2 test, and standardized Pearson residual. RESULTS: A total of 583 subjects underwent genotyping (156 white subjects with primary open-angle glaucoma; 143 subjects of black African ancestry with primary open-angle glaucoma; 148 white controls; and 136 controls of black African ancestry). There were no differences in ADRB2 alleles and haplotypes between the primary open-angle glaucoma and control groups, whether analyzed together or by ancestry. Previously described ancestry-based differences in allele frequencies were found. We also found ancestry-based differences in ADRB2 haplotypes. CONCLUSION: The ADRB2 gene was not a glaucoma susceptibility locus in our study population. CLINICAL RELEVANCE: Because this gene is not a disease locus, we can now study the role of ADRB2 haplotypes in the glaucoma risk factor of intraocular pressure fluctuation and variation in intraocular pressure response to β-blockers.
Dr. N. McLaren, Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, MI, USA
Classification:
3.4.2 Gene studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
11.3.4 Betablocker (Part of: 11 Medical treatment > 11.3 Adrenergic drugs)
