Evaluation of the beta2-adrenergic receptor gene as a candidate glaucoma gene in 2 ancestral populations.
OBJECTIVE
To determine whether the beta(2)-adrenergic receptor (ADRB2) gene is a glaucoma susceptibility locus.


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.


CONCLUSIONS
The ADRB2 gene was not a glaucoma susceptibility locus in our study population.


CONCLUSIONS
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 beta-blockers.
McLaren
Ning
N
Department of Ophthalmology and Visual Sciences, University of Michigan, Ann Arbor, USA.
Reed
David M
DM
Musch
David C
DC
Downs
Catherine A
CA
Higashi
Misao E
ME
Santiago
Cecilia
C
Radenbaugh
Pauline A
PA
Allingham
R Rand
RR
Richards
Julia E
JE
Moroi
Sayoko E
SE
D000368:Aged; D044383:Black People; D005260:Female; D020022:Genetic Predisposition to Disease; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D018343:Receptors, Adrenergic, beta-2 / Q000235:genetics*; D044465:White People
D018343:Receptors, Adrenergic, beta-2