Association of HK2 and NCK2 with normal-tension glaucoma in a population from the Republic of Korea

Jung, Seung‐Hyun; Lee, Young Chun; Lee, Mee Yon; Shin, Hoon−Kyu

doi:10.1007/s00417-019-04467-z

Cited by 3 publications

(2 citation statements)

References 18 publications

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“…The qualified studies were published between November 2001 and January 2024. Among these studies, 55 were case control studies conducted in 11 countries and regions: 10 in China [22,26,37,40,53,54,57,66,69,70], 13 in Korea [20,25,30,39,47,[58][59][60][62][63][64]67,71], 18 in Japan [18,19,23,24,27,[31][32][33][34]38,41,42,46,48,49,51,52,56], 3 in Poland [55,61,65], 2 in the U.S [36,50], 3 in England [16,17,45], 2 in Australia [21,…”

Section: Characteristics Of Qualified Studiesmentioning

confidence: 99%

Association of Gene Polymorphisms with Normal Tension Glaucoma: A Systematic Review and Meta-Analysis

Pan,

Wu,

Wang

2024

Genes

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Background: Normal tension glaucoma (NTG) is becoming a more and more serious problem, especially in Asia. But the pathological mechanisms are still not illustrated clearly. We carried out this research to uncover the gene polymorphisms with NTG. Methods: We searched in Web of Science, Embase, Pubmed and Cochrane databases for qualified case-control studies investigating the association between single nucleotide polymorphisms (SNPs) and NTG risk. Odds ratios (ORs) and 95% confidence intervals (CIs) for each SNP were estimated by fixed- or random-effect models. Sensitivity analysis was also performed to strengthen the reliability of the results. Results: Fifty-six studies involving 33 candidate SNPs in 14 genetic loci were verified to be eligible for our meta-analysis. Significant associations were found between 16 SNPs (rs166850 of OPA1; rs10451941 of OPA1; rs735860 of ELOVL5; rs678350 of HK2; c.603T>A/Met98Lys of OPTN; c.412G>A/Thr34Thr of OPTN; rs10759930 of TLR4; rs1927914 of TLR4; rs1927911 of TLR4; c.*70C>G of EDNRA; rs1042522/-Arg72Pro of P53; rs10483727 of SIX1-SIX6; rs33912345 of SIX1-SIX6; rs2033008 of NCK2; rs3213787 of SRBD1 and c.231G>A of EDNRA) with increased or decreased risk of NTG. Conclusions: In this study, we confirmed 16 genetic polymorphisms in 10 genes (OPA1, ELOVL5, HK2, OPTN, TLR4, EDNRA, P53, NCK2, SRBD1 and SIX1-SIX6) were associated with NTG.

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Section: Characteristics Of Qualified Studiesmentioning

confidence: 99%

Association of Gene Polymorphisms with Normal Tension Glaucoma: A Systematic Review and Meta-Analysis

Pan,

Wu,

Wang

2024

Genes

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“…A two-stage case-control study by Shi et al [97] that tested 669 SNPs from the region of chromosome 2 in Japanese patients showed that HK2 had significant association with POAG and NTG. Lastly, a study that investigated the relationship of the HK2 gene and NTG in a Korean cohort showed that the HK2 gene polymorphism rs678350 may contribute to NTG genetic susceptibility [98].…”

Section: Hk2mentioning

confidence: 99%

The Role of Mitophagy in Glaucomatous Neurodegeneration

Stavropoulos,

Grewal,

Petriti

et al. 2023

Cells

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This review aims to provide a better understanding of the emerging role of mitophagy in glaucomatous neurodegeneration, which is the primary cause of irreversible blindness worldwide. Increasing evidence from genetic and other experimental studies suggests that mitophagy-related genes are implicated in the pathogenesis of glaucoma in various populations. The association between polymorphisms in these genes and increased risk of glaucoma is presented. Reduction in intraocular pressure (IOP) is currently the only modifiable risk factor for glaucoma, while clinical trials highlight the inadequacy of IOP-lowering therapeutic approaches to prevent sight loss in many glaucoma patients. Mitochondrial dysfunction is thought to increase the susceptibility of retinal ganglion cells (RGCs) to other risk factors and is implicated in glaucomatous degeneration. Mitophagy holds a vital role in mitochondrial quality control processes, and the current review explores the mitophagy-related pathways which may be linked to glaucoma and their therapeutic potential.

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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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Association of HK2 and NCK2 with normal-tension glaucoma in a population from the Republic of Korea

Cited by 3 publications

References 18 publications

Association of Gene Polymorphisms with Normal Tension Glaucoma: A Systematic Review and Meta-Analysis

Association of Gene Polymorphisms with Normal Tension Glaucoma: A Systematic Review and Meta-Analysis

The Role of Mitophagy in Glaucomatous Neurodegeneration

Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations

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