Original articleGenetic Associations of Primary Angle-Closure Disease: A Systematic Review and Meta-analysis
Section snippets
Search Methods for Identifying Studies
We conducted the literature search in the EMBASE and MEDLINE databases via the Ovid platform. We adopted sensitive search strategies using the Boolean logic and search terms with controlled vocabularies (i.e., Medical Subject Heading terms): (“polymorphism(s)” OR “mutation” OR “genotype(s)” OR “genetic(s)” OR “gene(s)” OR “allele(s)” OR “DNA”) AND (“glaucoma” OR “angle closure”) (Table 1, available at www.aaojournal.org). In addition, we manually screened the references of the research
Inclusion of Studies
We identified a total of 8459 records published between 194831 and May 4, 2015,32, 33 from MEDLINE and EMBASE. After removing 1996 duplicates, we evaluated 6463 citations and selected 55 articles for full-text assessment. Among them, 41 were genetic studies (Fig 1), including 34 candidate gene association studies involving 49 genes, 5 re-sequencing studies of 10 nuclear genes,34, 35, 36, 37 and the mitochondrial sequence.38 The remaining 2 were GWAS that identified 4 genetic loci.14, 15 The 2
Discussion
This is the first systematic review and meta-analysis of all reported genetic associations of PACD, including PACG and relevant phenotypes. We confirmed the associations of the 3 GWAS loci (PLEKHA7, COL11A1 and PCMTD1-ST18)14 with PACG, and PCMTD1-ST18 with combined PACS and PAC. Moreover, we affirmed 5 genes, which were identified by candidate gene studies, to be associated with PACD. Among them, 4 genes (HGF, MFRP, MMP9, and NOS3) were associated with PACG, and 1 gene (HSP70) was associated
References (112)
- et al.
Issues in the epidemiology and population-based screening of primary angle-closure glaucoma
Surv Ophthalmol
(1992) - et al.
The heritability and sibling risk of angle closure in Asians
Ophthalmology
(2011) - et al.
Meta-analysis in clinical trials
Control Clin Trials
(1986) - et al.
Contour-enhanced meta-analysis funnel plots help distinguish publication bias from other causes of asymmetry
J Clin Epidemiol
(2008) - et al.
Publication and related bias in meta-analysis: power of statistical tests and prevalence in the literature
J Clin Epidemiol
(2000) - et al.
Association of genetic variants with polypoidal choroidal vasculopathy: a systematic review and updated meta-analysis
Ophthalmology
(2015) - et al.
Molecular cloning and sequence analysis of the cDNA for a human serine protease responsible for activation of hepatocyte growth factor. Structural similarity of the protease precursor to blood coagulation factor XII
J Biol Chem
(1993) - et al.
A multifunctional docking site mediates signaling and transformation by the hepatocyte growth factor/scatter factor receptor family
Cell
(1994) - et al.
Genetic analysis of axial length genes in high grade myopia from Indian population
Meta Gene
(2014) - et al.
Biometric and molecular characterization of clinically diagnosed posterior microphthalmos
Am J Ophthalmol
(2013)
The number of people with glaucoma worldwide in 2010 and 2020
Br J Ophthalmol
Primary and secondary angle-closure glaucomas
Primary angle-closure glaucoma
Angle-closure glaucoma - clinical types
The definition and classification of glaucoma in prevalence surveys
Br J Ophthalmol
The prevalence of primary angle closure glaucoma in European derived populations: a systematic review
Br J Ophthalmol
Variations in primary open-angle glaucoma prevalence by age, gender, and race: a Bayesian meta-analysis
Invest Ophthalmol Vis Sci
The prevalence of primary glaucoma in mainland china: a systematic review and meta-analysis
J Glaucoma
Primary angle-closure glaucoma among Alaskan Eskimos
Doc Ophthalmol
Angle-closure glaucoma. Chapter 5 in Section 10
Genetic heritability of a shallow anterior chamber in Chinese families with primary angle closure glaucoma
Ophthalmic Genet
Genome-wide association analyses identify three new susceptibility loci for primary angle closure glaucoma
Nat Genet
ABCC5, a gene that influences the anterior chamber depth, is associated with primary angle closure glaucoma
PLoS Genet
Systematic meta-analyses and field synopsis of genetic association studies in schizophrenia: the SzGene database
Nat Genet
Essentials of Medical Statistics In: Analysis of numerical outcomes
Standard Quality Assessment Criteria for Evaluating Primary Research Papers From a Variety of Fields
Conducting the review: phase 5 study quality assessment. In: Undertaking Systematic Reviews of Research Effectiveness CDC’s Guidance for Those Carrying Out or Commissioning Reviews. Centre of Reviews and Dissemination
Individual determinants of research utilization by nurses: a systematic review update
Implement Sci
Closing the quality gap: revisiting the state of the science (vol. 3: quality improvement interventions to address health disparities)
Evid Rep Technol Assess (Full Rep)
Quantifying heterogeneity in a meta-analysis
Stat Med
Measuring inconsistency in meta-analyses
BMJ
Does cigarette smoking alter the risk of pterygium? A systematic review and meta-analysis
Invest Ophthalmol Vis Sci
Lack of association between the rs2664538 polymorphism in the MMP-9 gene and primary angle closure glaucoma in Singaporean subjects
J Glaucoma
The role of inheritance in glaucoma
Trans Am Acad Ophthalmol Otolaryngol
Systematic review of the association between Alzheimer’s disease and chronic glaucoma
Clin Ophthalmol
Variants in Nebulin (NEB) are linked to the development of familial primary angle closure glaucoma in Basset hounds
PLoS One
Glaucoma-associated CYP1B1 mutations share similar haplotype backgrounds in POAG and PACG phenotypes
Invest Ophthalmol Vis Sci
Variations in NTF4, VAV2, and VAV3 genes are not involved with primary open-angle and primary angle-closure glaucomas in an Indian population
Invest Ophthalmol Vis Sci
Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma
Mol Vis
Mutation analysis of seven known glaucoma-associated genes in Chinese patients with glaucoma
Invest Ophthalmol Vis Sci
Susceptibility to primary angle closure glaucoma in Saudi Arabia: the possible role of mitochondrial DNA ancestry informative haplogroups
Mol Vis
A catalase promoter variant rs1001179 is associated with visual acuity but not with primary angle closure glaucoma in Saudi patients
BMC Med Genet
Association of a polymorphism in the BIRC6 gene with pseudoexfoliative glaucoma
PLoS One
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma
Hum Mol Genet
The LOXL1 gene variations are not associated with primary open-angle and primary angle-closure glaucomas
Invest Ophthalmol Vis Sci
Lack of association between interleukin-1 gene cluster polymorphisms and glaucoma in Chinese subjects
Invest Ophthalmol Vis Sci
Haplotype analysis of association of the MYOC gene with primary angle-closure glaucoma in a Han Chinese population
Genet Test Mol Biomarkers
Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts
Mol Vis
XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population
Mol Vis
Cited by (29)
The genetic basis for adult onset glaucoma: Recent advances and future directions
2022, Progress in Retinal and Eye ResearchCitation Excerpt :Notably, two of the loci (PLEKHA7 and FERMT2) are also associated with risk of increased IOP (Khawaja et al., 2018b; MacGregor et al., 2018), underlining the key contribution of IOP to PACG disease as well as possible shared mechanisms with POAG. These loci have been replicated in many follow-up studies that dissect the association of these loci to PACG disease severity (Awadalla et al., 2013; Duvesh et al., 2013; Nongpiur et al., 2018; Rong et al., 2016; Shi et al., 2013; Wan et al., 2019). The results largely support the association of these loci with PACG risk, despite heterogeneity in the clinical presentation, ethnic make-up, and sample sizes of cohorts.
In-depth analysis of eight susceptibility loci of primary angle closure glaucoma in Han Chinese
2021, Experimental Eye ResearchCitation Excerpt :For example, the prevalence of PACG is higher in northeast China than that in east China (Song et al., 2017). There are shreds of evidence of ethnic heterogeneity in different ethnic cohorts, which explains the inconsistent data of genetic susceptibility loci in diverse populations (Rong et al., 2016). The characteristic anatomical structures of the eyes with PACG include shallow anterior chamber depth, short axial length, thick and anteriorly positioned lens, and hyperopia.
Potential Biomarkers for Primary Open-Angle Glaucoma Identified by Long Noncoding RNA Profiling in the Aqueous Humor
2019, American Journal of PathologyAssociation of the SIX6 locus with primary open angle glaucoma in southern Chinese and Japanese
2019, Experimental Eye ResearchCitation Excerpt :Heterogeneity was assessed by I2 (Higgins and Thompson, 2002). A I2 value greater than 25% indicates a moderate to high inter-study heterogeneity (Higgins and Thompson, 2002; Higgins et al., 2003; Rong et al., 2016b). To obtain more conservative results we calculated the summary OR and 95% CI only using the random-effect model (Rong et al., 2017), in which the weighted effect of a SNP was estimated by inverse variance (IV) and τ2 from the DerSimonian-Laird estimator (Dersimonian and Laird, 1986).
Increased bioavailability of cyclic guanylate monophosphate prevents retinal ganglion cell degeneration
2019, Neurobiology of Disease
Supplemental material is available at www.aaojournal.org.
Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
Author Contributions:
Conception and design: Rong, Chen
Data collection: Rong, FY Tang, Ma, Yam, SM Tang, Li, Gu, Chen
Analysis and interpretation: Rong, FY Tang, Chu, SM Tang, Li, Gu, Young, Tham, Pang, Chen
Obtained funding: Not applicable
Overall responsibility: Rong, Chu, Ma, Yam, Young, Tham, Pang, Chen