Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG

McDonald, Kristin; Abramson, Karen; Beltran, Marco A; Ramirez, Maria G.; Álvarez, María Arias; Ventura, Alice; Santiago-Turla, Cecilia; Schmidt, Silke; Hauser, Michael A.; Allingham, R. Rand

doi:10.1038/jhg.2010.91

Cited by 20 publications

(11 citation statements)

References 28 publications

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“…In fact, associations between the GSTM1 null polymorphism has also been associated with POAG in Brazilian populations [ 101 , 120 , 121 ]. Meanwhile, MYOC and OPTN polymorphisms have shown no association [ 122 ], although MYOC variants studied in Peruvian populations have shown both novel and previously reported genetic variants from other populations [ 123 , 124 ].…”

Section: Discussionmentioning

confidence: 99%

Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations

Zukerman

Harris

Vercellin

et al. 2020

Genes

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Glaucoma, the world’s leading cause of irreversible blindness, is a complex disease, with differential presentation as well as ethnic and geographic disparities. The multifactorial nature of glaucoma complicates the study of genetics and genetic involvement in the disease process. This review synthesizes the current literature on glaucoma and genetics, as stratified by glaucoma subtype and ethnicity. Primary open-angle glaucoma (POAG) is the most common cause of glaucoma worldwide, with the only treatable risk factor (RF) being the reduction of intraocular pressure (IOP). Genes associated with elevated IOP or POAG risk include: ABCA1, AFAP1, ARHGEF12, ATXN2, CAV1, CDKN2B-AS1, FOXC1, GAS7, GMDS, SIX1/SIX6, TMCO1, and TXNRD2. However, there are variations in RF and genetic factors based on ethnic and geographic differences; it is clear that unified molecular pathways accounting for POAG pathogenesis remain uncertain, although inflammation and senescence likely play an important role. There are similar ethnic and geographic complexities in primary angle closure glaucoma (PACG), but several genes have been associated with this disorder, including MMP9, HGF, HSP70, MFRP, and eNOS. In exfoliation glaucoma (XFG), genes implicated include LOXL1, CACNA1A, POMP, TMEM136, AGPAT1, RBMS3, and SEMA6A. Despite tremendous progress, major gaps remain in resolving the genetic architecture for the various glaucoma subtypes across ancestries. Large scale carefully designed studies are required to advance understanding of genetic loci as RF in glaucoma pathophysiology and to improve diagnosis and treatment options.

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Section: Discussionmentioning

confidence: 99%

Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations

Zukerman

Harris

Vercellin

et al. 2020

Genes

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“…171 Cells developed special mechanisms to remove DNA damage and 173 OPTN is the second gene identified by genetic linkage analysis, which may be responsible for approximately 1.5% of NTG cases. 174 It was reported that OPTN protects cells from oxidative stress and inhibits cytochrome c release from mitochondria. 175 Vitamin C is an important water-soluble antioxidant.…”

Section: Oxidative Stress-related Genesmentioning

confidence: 99%

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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“…9,46 Subsequently, most studies of optineurin in large populations of glaucoma patients have suggested that mutations in this gene may be responsible for up to 1.5% of NTG cases. [47][48][49] The strongest data linking mutations in optineurin with glaucoma are focused on the GLU50LYS mutation. The links between other optineurin mutations and glaucoma are more complex, as these mutations are associated with glaucoma in some but not all populations.…”

Section: Myocilin (Myoc Omim #601652)mentioning

confidence: 99%

Primary open-angle glaucoma genes

Fingert

2011

Eye

191

175

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A substantial fraction of glaucoma has a genetic basis. About 5% of primary open angle glaucoma (POAG) is currently attributed to single-gene or Mendelian forms of glaucoma (ie glaucoma caused by mutations in myocilin or optineurin). Mutations in these genes have a high likelihood of leading to glaucoma and are rarely seen in normal subjects. Other cases of POAG have a more complex genetic basis and are caused by the combined effects of many genetic and environmental risk factors, each of which do not act alone to cause glaucoma. These factors are more frequently detected in patients with POAG, but are also commonly observed in normal subjects. Additional genes that may be important in glaucoma pathogenesis have been investigated using quantitative traits approaches. Such studies have begun to identify genes that control the magnitude of important quantitative features of glaucoma that may also be important risk factors for POAG, such as central corneal thickness. Each of these different approaches to study glaucoma genetics is providing new insights into the pathogenesis of POAG.

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Myocilin and optineurin coding variants in Hispanics of Mexican descent with POAG

Cited by 20 publications

References 28 publications

Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations

Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations

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

Primary open-angle glaucoma genes

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