title: Association of single nucleotide polymorphisms in the CYP1B1 gene with the risk of primary open-angle glaucoma: a meta-analysis.
abstract: Mutations in the CYP1B1 gene were detected in primary open-angle glaucoma (POAG) patients. However, the association between these mutations and the incidence of POAG remains to be elucidated. Here, we have conducted a meta-analysis to analyze this correlation, using relevant studies obtained from an extensive search of various electronic databases, including EMBase, Web of Science, and PubMed. The extracted studies were selected for the meta-analysis based on the inclusion and exclusion criteria. The quality of each included study was assessed by the Newcastle-Ottawa scale (NOS), and the I2 value was calculated to evaluate the heterogeneity between studies. The combined effect size was presented as the odds ratio (OR), and confidence intervals (CI) were used to assess the association between POAG and CYP1B1 mutations. Eight studies, each with a high NOS score, were included in the analysis. Compared to the mutant allele, the wild-type allele of the rs180040 polymorphism in POAG patients showed a 12% decrease in OR (OR = 0.88, 95%CI = 0.76- 1.00); also, the wild-type allele of rs1056827 showed a 23% decrease in OR of the incidence of POAG (OR = 0.77, 95%CI = 0.60-0.99). However, the latter result was controversial. Polymorphisms at rs1056836, rs10012, and rs1056837 were not correlated with the incidence of POAG (using any evaluation model). In conclusion, three of the tested SNPs in the CYP1B1 gene were correlated with POAG; however, the SNPs rs180040 and rs1056827 showed an association with risk of POAG. These results must be further validated with larger-scale evaluations.
authors.affiliation: Department of Ophthalmology, Jinan Central Hospital Affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: Z
authors.initials: Z
authors.lastname: Wang
authors.affiliation: Department of Ophthalmology, Jiaozhou Central Hospital of Qingdao, Qingdao, Shandong, China.
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.affiliation: Department of Orthopedics, Jinan Central Hospital Affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: L
authors.initials: L
authors.lastname: Li
authors.affiliation: Department of Cardiology, Jinan Central Hospital Affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: H
authors.initials: H
authors.lastname: Sun
authors.affiliation: Department of Neurology, Jinan Central Hospital Affiliated to Shandong University, Jinan, Shandong, China.
authors.forename: X Y
authors.initials: XY
authors.lastname: Lin
mesh_terms: D000483:Alleles; D016022:Case-Control Studies; D065633:Cytochrome P-450 CYP1B1 / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005902:Glaucoma, Open-Angle / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D009154:Mutation; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide; D017594:Publication Bias; D012306:Risk
chemical_list: D065633:Cytochrome P-450 CYP1B1