Association of Glaucoma-Susceptible Genes to Regional Circumpapillary Retinal Nerve Fiber Layer Thickness and Visual Field Defects

Yoshikawa, Munemitsu; Nakanishi, Hideo; Yamashiro, Kenji; Miyake, Masahiro; Akagi, Tadamichi; Gotoh, Noriko; Ikeda, Hanako Ohashi; Suda, K.; Yamada, Hiroshi; Hasegawa, Tomoko; Iida, Yuto; Yamada, Ryūji; Matsuda, Fumihiko; Yoshimura, Nagahisa

doi:10.1167/iovs.16-20797

Cited by 12 publications

(13 citation statements)

References 48 publications

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“…Twenty-seven SNPs in 19 genes showed no significant association with POAG in this meta-analysis, including rs1900004 and rs7916697 in the ATOH7 gene, 75,85,102,109,110 rs1001179 in the CAT gene, 61,15 rs1063192, and rs4977756 in the CDKN2B gene, 10,12,67,69,71,75,82,85,102,103,110,157 rs12994401 in the chromosome2p gene, 88,99,101,119,120,125,151 rs1800440 in the CYP1B1 gene, 89,118,158 rs754203 in the CYP46A1 gene, 101,113,124 rs3764028 in the GRIN2B gene, 78,86 -511C/T in the IL-1b gene, 94,135,136 rs3825942, rs1048661, and rs2165241 in the LOXL1 gene, 27,76,80,81,91,93,98,126,[130][131][132] rs1801133 in...…”

Section: Lack Of Association Between Snps and Poagmentioning

confidence: 65%

Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis

Chen

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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for genetic studies of POAG. All case control studies investigating the association between singlenucleotide polymorphisms (SNPs) and POAG risk were included. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated by fixed-or random-effect model. RESULTS. This meta-analysis included 108 case control studies involving 35,389 POAG patients and 51,742 controls. The pooled results showed a significant association between 20 SNPs in 12 genes (148Asp/Glu in APE1 gene; rs449647 in APOE gene; rs1052990 and rs4236601 in CAV1/CAV2 gene; rs1799750 in MMP gene; c.603T3A (Met98Lys) in OPTN gene; rs7081455 in PLXDC2 gene; rs1279683 in SLC23A2 gene; 372 T/C in TIMP1 gene; rs1927911, rs2149356, rs4986791, rs7037117, and rs10759930 in TLR4 gene; rs4656461 in TMCO1 gene; 399Arg/Gln in XRCC1 gene; and rs540782, rs547984, and rs693421 in ZP4 gene) with POAG. CONCLUSIONS. Based on the current meta-analysis, we indicate 20 SNPs in 12 genes (APE1, APOE, CAV1/CAV2, MMP, OPTN, PLXDC2, SLC23A2, TIMP1, TLR4, TMCO1, XRCC1, ZP4) as predictive risk factors for POAG. More studies with large sample sizes and various ethnicities are warranted in the future to provide more powerful evidence.

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Section: Lack Of Association Between Snps and Poagmentioning

confidence: 65%

Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis

Chen

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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“…The summary outcomes of unadjusted ORs were estimated by using inverse-variance-weighted meta-analysis. The 13 studies 13,14,19,[22][23][24]27,[29][30][31][32]38,46 that contained adjusted ORs and 95% CIs were included in the meta-analysis of adjusted associations. The pooled effect sizes in the adjusted associations were also meta-analyzed by using inverse-variance weighting.…”

Section: Discussionmentioning

confidence: 99%

“…Sixteen studies provided results on the POAG association of rs10483727 in 20 cohorts (Table 2), involving a total of 41,827 subjects (14,402 patients and 27,425 controls). 14,22,[24][25][26][27][28][30][31][32][33][34]36,38,46,47 There was moderate interstudy heterogeneity (I 2 ¼ 43.7%) among the 20 cohorts when analyzing the unadjusted ORs under the allelic model ( Fig. 2 and Supplementary Table S3).…”

Section: Associations Between Six1-six6 Snps and Poagmentioning

confidence: 96%

“…For calculating the unadjusted association, we extracted the number and/or frequency of the alleles from all the included studies. In order to calculate the adjusted association results, we also extracted in the adjusted ORs from 13 studies, 13,14,19,[22][23][24]27,[29][30][31][32]38,46 which conducted logistic regression analysis under an additive model adjusted mainly for sex and age, as well as ocular parameters 28 and top principal components 14,19,22 in some studies.…”

Section: Data Extractionmentioning

confidence: 99%

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Association of Polymorphisms at theSIX1-SIX6Locus With Primary Open-Angle Glaucoma

et al. 2019

Invest. Ophthalmol. Vis. Sci.

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PURPOSE. To evaluate the association of single-nucleotide polymorphisms (SNPs) in the SIX1-SIX6 locus with primary open-angle glaucoma (POAG) through a systematic review and metaanalysis from 22 studies. METHODS. To our knowledge, all case-control association studies on SNPs in the SIX1-SIX6 locus and POAG reported up to August 30, 2018, in PubMed, Embase, and Web of Science were retrieved. Unadjusted and adjusted odds ratios (ORs) and 95% confidence intervals (95% CIs) for each SNP were calculated using a fixed-or random-effect model according to interstudy heterogeneity. RESULTS. This meta-analysis involved 12 SNPs in SIX1-SIX6 reported in 22 studies. The association of rs10483727 with POAG has been presented in 16 studies involving 14,402 patients and 27,425 controls, whereas rs33912345 has been investigated in 12 studies involving 10,563 patients and 16,740 controls. Meta-analyses revealed significant associations of these two SNPs with POAG in the pooled populations under all genetic models. Stratified analyses by population detected significant association of both SNPs in the East Asian and Caucasian subgroups, but not in South Asian or African subgroups. Among the other SNPs that were reported by up to four cohorts of East Asian and African ancestries, only rs12436579 showed a significant association in the meta-analysis (OR ¼ 0.79, P ¼ 1.08 3 10 À4). CONCLUSIONS. This meta-analysis confirmed the association of rs10483727 and rs33912345 in SIX1-SIX6 with POAG. The associations of both SNPs were specifically detected in East Asian and Caucasian cohorts, rather than in South Asian and African cohorts, suggesting an ethnic difference. SNP rs12436579 is a candidate variant for the disease that awaits validation in other populations.

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“…Though studies involving caveolin in the eye have been lagging compared with other organ systems, there is a recent growing interest in studying the relationship of caveolin to the eye (Gu et al, 2017). This interest has been fueled by a number of recent studies suggesting Cav-1/Cav-2 as potential glaucoma-susceptible genes in multiple populations (Wiggs et al, 2011;Chen et al, 2014;Loomis et al, 2014;Yoshikawa et al, 2017). Cav-1 has been shown to protect retinal ganglion cells through a survival kinase activation mechanism involving Akt similar to that in the heart .…”

Section: Eyementioning

confidence: 99%

Caveolins as Regulators of Stress Adaptation

2018

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Caveolins have been recognized over the past few decades as key regulators of cell physiology. They are ubiquitously expressed and regulate a number of processes that ultimately impact efficiency of cellular processes. Though not critical to life, they are central to stress adaptation in a number of organs. The following review will focus specifically on the role of caveolin in stress adaptation in the heart, brain, and eye, three organs that are susceptible to acute and chronic stress and that show as well declining function with age. In addition, we consider some novel molecular mechanisms that may account for this stress adaptation and also offer potential to drive the future of caveolin research.

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Association of Glaucoma-Susceptible Genes to Regional Circumpapillary Retinal Nerve Fiber Layer Thickness and Visual Field Defects

Cited by 12 publications

References 48 publications

Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis

Association of Gene Polymorphisms With Primary Open Angle Glaucoma: A Systematic Review and Meta-Analysis

Association of Polymorphisms at theSIX1-SIX6Locus With Primary Open-Angle Glaucoma

Caveolins as Regulators of Stress Adaptation

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