Association between CYP1A1m1 gene polymorphism and primary open-angle glaucoma

Abstract

ABSTRACT. The CYP1A1 gene is related to the generation of secondary metabolites that are capable of inducing DNA damage. The CYP1A1m1 polymorphism has been examined in many studies, and is located in a region near loci that have been linked to glaucoma, including the locus GLC1I. As a result, this polymorphism has been related to several diseases that are influenced by exposure to xenobiotic as well as primary open-angle glaucoma. We compared the prevalence of the CYP1A1m1 polymorphism in 152 Brazilian patients, 100 patients with primary open-angle glaucoma, and 52 normal controls using restriction fragment length polymorphism analysis. The frequency of the homozygous wild-type (w1/w1) CYP1A1 gene among patients with primary open-angle glaucoma (N = 100) was 16%, for genotype w1/m1, the frequency was 77%, and for m1/m1 it was 7%. Among the control group (N = 52), the frequency of the homozygous wild-type (w1/w1) CYP1A1 gene was 54%, the frequency of w1/m1 was 46%, and the frequency of m1/m1 was 0%. The presence of the CYP1A1m1 polymorphism may interfere with xenobiotic metabolism and exacerbate direct or indirect damage to the optic nerve. These CYP1A1m1

The Aryl Hydrocarbon Receptor: A Mediator and Potential Therapeutic Target for Ocular and Non-Ocular Neurodegenerative Diseases

“…Intraocular pressure is an important risk factor in POAG. Two polymorphisms in the CYP1A1 gene have been shown to be associated with POAG, namely the CYP1A1m1 (T to C transition in exon 7) and CYP1A1m2 (Valine to Isoleucine transition at codon 462) [119]. Additionally, the association of CYP1B1 has also been shown in primary congenital glaucoma, which manifests itself with birth or at infancy [120].…”

Detoxification enzymes: cellular metabolism and susceptibility to various diseases

“…A case-control study carried out in the city of Goiânia with 100 individuals with glaucoma and 52 healthy controls found 84% of a single-nucleotide polymorphism in gene CYP1A1 (P-oxidase cytochrome A 1) in the glaucoma patients and 46% in healthy individuals. 10 The absence of GSTT1 (glutathione S-transferase theta 1) expression. has been associated in scientific literature with the risk of bladder, 11 oral cavity 12 and lung cancers.…”

Common polymorphisms of thehOGG1, APE1andXRCC1genes correlate with the susceptibility and clinicopathological features of primary angle-closure glaucoma

“…According to recent reports, gene polymorphism is an important factor in determining an individual’s disease susceptibility, phenotype and treatment response. Furthermore, gene polymorphism is reported to be strongly correlated with glaucoma susceptibility [5,6]. …”