Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of <i>CYP1B1</i> to open‐angle glaucoma phenotypes

Patel, Himanshu; Richards, Amanda J; Karolyi, Betina De; Best, Stephen; Danesh‐Meyer, Helen V.; Vincent, Andrea L

doi:10.1111/j.1442-9071.2011.02714.x

Cited by 20 publications

(15 citation statements)

References 32 publications

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“…Several studies have reported that POAG patients express only mutated CYP1B1 (Melki et al, 2004;Lopez-Garrido et al, 2006;Chakrabarti et al, 2007;Kumar et al, 2007;Suri et al, 2008;Hilal et al, 2010;Lopez-Garrido et al, 2010;Milla et al, 2013;Zhou et al, 2013). Some studies have also observed an association between single nucleotide polymorphisms (SNPs) in the CYP1B1 gene and POAG incidence (Melki et al, 2005;Acharya et al, 2006;Bhattacharjee et al, 2008;Burdon et al, 2010;Fan et al, 2010;Patel et al, 2012;Buentello-Volante et al, 2013;Gong et al, 2015;Micheal et al, 2015;Williams et al, 2015). On the other hand, a meta-analysis conducted by Dong et al (2012) showed the absence of any correlation between POAG and polymorphisms at the SNP sites rs1056836, rs10012, rs1056837, rs1056827, rs2567206, and rs180040.…”

Section: Introductionmentioning

confidence: 99%

Association of single nucleotide polymorphisms in the CYP1B1 gene with the risk of primary open-angle glaucoma: a meta-analysis

Wang¹,

Li²,

Li³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Mutations in the CYP1B1 gene were detected in primary openangle 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 I 2 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.

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Section: Introductionmentioning

confidence: 99%

Association of single nucleotide polymorphisms in the CYP1B1 gene with the risk of primary open-angle glaucoma: a meta-analysis

Wang¹,

Li²,

Li³

et al. 2015

Genet. Mol. Res.

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“…Among them, 94 were excluded because 52 were duplications, 25 were reviews, and 17 were about unrelated topics. We then retrieved the full texts of the remaining 28 records for review, and further excluded 23 articles, of which 7 were functional studies, [25,26,29,39–42] 7 were not case–control studies, [6,15,17,24,43–45] 4 did not provide allelic or genotype data, [12,13,18,23] 3 were animal studies, [27,28,46] and 2 were about rare variants with minor allele frequencies lower than 0.5%. [14,21] Finally, a total of 5 studies were included in the meta-analysis.…”

Section: Resultsmentioning

confidence: 99%

Association of WDR36 polymorphisms with primary open angle glaucoma

Liu

Zhao

et al. 2017

Medicine

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Background:The association of the WDR36 gene with glaucoma has been controversial in the literature. We therefore conducted a systematic review and meta-analysis to assess the association of all reported common polymorphisms in WDR36 with primary open angle glaucoma (POAG) and its subtypes: high tension glaucoma (HTG) and normal tension glaucoma (NTG).Methods:Publications in PUBMED and EMBASE databases up to March 9, 2016 were searched for case–control association studies of WDR36 with POAG, HTG, and/or NTG. Reported studies giving adequate genotype and/or allele information were included. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) of individual polymorphisms were estimated using the allelic model.Results:Our literature search yielded 122 records, among which 5 studies were eligible for meta-analysis, involving a total of 1352 POAG patients and 894 controls. Five WDR36 polymorphisms were meta-analyzed, rs11241095, rs10038177, rs17553936, rs13186912, and rs13153937. However, none of them was significantly associated with POAG, HTG, or NTG. The most-investigated polymorphisms, rs11241095 and rs10038177, had a pooled-OR of 1.09 (95% CI: 0.94–1.28, P = .25, I2 = 0) and 0.99 (95% CI: 0.71–1.39, P = .97, I2 = 77%), respectively, for POAG.Conclusion:The existing data in the literature do not support a significant role of WDR36 in the genetic susceptibility of POAG or its subtypes. Further replication studies in specific populations are warranted.

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“…32,55 In CYP1B1, the proportion of POAG cases with qualifying variants was 2.75% and was lower than in previous reports in Caucasian populations in France (4.6%) 26 and New Zealand (6.1%). 56 This difference may be in part due to the younger age at diagnosis in the French JOAG study (median ¼ 40, range, 13-52), as our previous study examining the prevalence of CYP1B1 variants in JOAG found a 6.8% rate. 27 Additionally, the three cases in the French study harbored a known polymorphic variant, p.(Ala443Val), which brings their true prevalence to 3.4%.…”

Section: Contribution Of Known Poag Genes Inmentioning

confidence: 87%

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

Zhou

Souzeau

Siggs

et al. 2017

Invest. Ophthalmol. Vis. Sci.

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Citation: Zhou T, Souzeau E, Siggs OM, et al. Contribution of mutations in known Mendelian glaucoma genes to advanced early-onset primary openangle glaucoma. Invest Ophthalmol Vis Sci. 2017;58:153758: -154458: . DOI: 10.1167 PURPOSE. Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) with Mendelian inheritance are caused by mutations in at least nine genes. Utilizing whole-exome sequencing, we examined the disease burden accounted for by these known Mendelian glaucoma genes in a cohort of individuals with advanced early-onset POAG. METHODS.The cases exhibited advanced POAG with young age of diagnosis. Cases and examined local controls were subjected to whole-exome sequencing. Nine hundred ninetythree previously sequenced exomes of Australian controls were called jointly with our dataset. Qualifying variants were selected based on predicted pathogenicity and rarity in public domain gene variant databases. Case-control mutational burdens were calculated for glaucoma-linked genes.RESULTS. Two hundred eighteen unrelated POAG participants and 103 nonglaucomatous controls were included in addition to 993 unexamined controls. Fifty-eight participants (26.6%) harbored rare potentially pathogenic variants in known glaucoma genes. Enrichment of qualifying variants toward glaucoma was present in all genes except WDR36, in which controls harbored more variants, and TBK1, in which no qualifying variants were detected in cases or controls. After multiple testing correction, only MYOC showed statistically significant enrichment of qualifying variants (odds ratio [OR] ¼ 16.62, P ¼ 6.31310 À16 ).CONCLUSIONS. Rare, potentially disease-causing variants in Mendelian POAG genes that showed enrichment in our dataset were found in 22.9% of advanced early-onset POAG cases. MYOC variants represented the largest monogenic cause in POAG. The association between WDR36 and POAG was not supported, and the majority of POAG cases did not harbor a potentially disease-causing variant in the remaining Mendelian genes.

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Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open‐angle glaucoma phenotypes

Cited by 20 publications

References 32 publications

Association of single nucleotide polymorphisms in the CYP1B1 gene with the risk of primary open-angle glaucoma: a meta-analysis

Association of single nucleotide polymorphisms in the CYP1B1 gene with the risk of primary open-angle glaucoma: a meta-analysis

Association of WDR36 polymorphisms with primary open angle glaucoma

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

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