Polymorphism of β-adrenergic receptors and susceptibility toopen-angle glaucoma

[摘要] Purpose: The human trabecular meshwork and ciliary body, whichexpress β-adrenergic receptors (ADRB1 and ADRB2), control aqueoushumor dynamics. We investigated associations of ADRB polymorphismswith open-angle glaucoma (OAG), because ADRB gene polymorphismsalter receptor function.Methods: We studied 240 Japanese controls and 505 Japanese OAGpatients including 211 with primary open-angle glaucoma (POAG), and 294with normal-tension glaucoma (NTG). Associations of four polymorphisms(Ser49Gly and Arg389Gly in the ADRB1 gene; Arg16Gly and Gln27Glu inthe ADRB2 gene) were compared between patients and controls. Age,intraocular pressure (IOP), and visual field defects at diagnosis wereexamined for associations with polymorphisms.Results: The Arg389Gly polymorphism in the ADRB1 gene showedsignificantly different allele and genotype frequencies in patients withNTG than in controls (p=0.004 and 0.006, respectively). Otherpolymorphisms did not show a significant frequency difference. In POAGpatients, carriers of Gly16 in the ADRB2 gene were significantlyyounger at diagnosis than noncarriers (p<0.001). The IOP at diagnosiswas significantly higher in OAG patients carrying 27Glu in the ADRB2gene than in patients without this allele (p<0.001). Clinicalcharacteristics of OAG patients did not differ significantly in relationto other polymorphisms.Conclusions: Certain polymorphisms of the ADRB1 and ADRB2genes influence the pathophysiology of OAG in Japanese patients.

[学科分类] 生物化学/生物物理