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  Vol. 125 No. 1, January 2007 TABLE OF CONTENTS
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  Ophthalmic Molecular Genetics
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Evaluation of the β2-Adrenergic Receptor Gene as a Candidate Glaucoma Gene in 2 Ancestral Populations

Ning McLaren, MS; David M. Reed, PhD; David C. Musch, PhD, MPH; Catherine A. Downs, MS, CGC; Misao E. Higashi, BS; Cecilia Santiago, MD; Pauline A. Radenbaugh, MS; R. Rand Allingham, MD; Julia E. Richards, PhD; Sayoko E. Moroi, MD, PhD

Arch Ophthalmol. 2007;125(1):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, {chi}2 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.


Author Affiliations: Departments of Ophthalmology and Visual Sciences (Ms McLaren; Drs Reed, Musch, Richards, and Moroi; and Ms Radenbaugh), Epidemiology (Drs Musch and Richards), and Otolaryngology (Ms Downs), University of Michigan, Ann Arbor; Department of Neuroscience, Harvard University, Boston, Mass (Ms Higashi); and Duke University Eye Center, Duke University, Durham, NC (Drs Santiago and Allingham).



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THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Intraocular Pressure Response to Topical {beta}-Blockers Associated With an ADRB2 Single-Nucleotide Polymorphism
McCarty et al.
Arch Ophthalmol 2008;126:959-963.
ABSTRACT | FULL TEXT  





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