Genetic Risk and Phenotype Correlation of Primary Open-Angle Glaucoma Based on Rho-Kinase Gene Polymorphisms

Kim, Young Kook; Bak, Eunoo; Wy, Seoyoung; Lee, Seung Chan; Kim, Yu Jeong; Park, Ki Ho; Jeoung, Jin Wook

doi:10.3390/jcm10091953

Cited by 5 publications

(5 citation statements)

References 19 publications

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“…The ROCK1 gene rs35996865 polymorphism mapping to the 5ʹ-UTR has been reported to be significantly associated with colorectal cancer 18,19 , obesity-related metabolic syndrome 20 , renal cell carcinoma 21 , respiratory distress syndrome 22 , nonsyndromic cleft palate 17 , and systemic sclerosis 23 , but not with Behçet's disease 24 or Alzheimer's disease 25 . Although no association of this polymorphism was noted with primary open-angle glaucoma in a Turkish population 26 , this variant is nominally associated with risk of high-tension glaucoma in a Korean population 27 .…”

Section: Discussionmentioning

confidence: 76%

Evaluation of the rs35996865 polymorphism of the ROCK1 gene in sepsis

Kale

Şener

Günay

et al. 2022

Rev. Assoc. Med. Bras.

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OBJECTIVE: Sepsis is a complex and serious medical condition resulting from the activation of an innate host response to infections. The etiology of sepsis is complex and can be influenced by genetic susceptibility. The purpose of the present study was to investigate a possible association of Rhokinase 1 (ROCK1) gene polymorphism with sepsis in a Turkish population. METHODS:The study group consisted of 100 unrelated patients with sepsis and 100 healthy controls. Genomic DNA was isolated from peripheral leukocytes from EDTA-containing blood using the QIAamp DNA Blood Mini Kit. ROCK1 gene rs35996865 and rs112130712 (Lys1054Arg) polymorphisms were analyzed in genomic DNA using the LightCycler 480 II real-time polymerase chain reaction. RESULTS: There were no significant differences in allele and genotype frequencies for ROCK1 gene rs35996865 polymorphism between the patients with sepsis and control group (p>0.05). Additionally, no association was detected between the rs35996865 polymorphism and mortality in the patient group. No polymorphism was detected with ROCK1 gene rs112130712 (Lys1054Arg) in our study groups. CONCLUSIONS: Our data showed that there is no marked association between the rs35996865 polymorphism and sepsis. Therefore, these results suggest that ROCK1 gene rs35996865 polymorphism is not risk factor for the development of sepsis in the Turkish population.

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Section: Discussionmentioning

confidence: 76%

Evaluation of the rs35996865 polymorphism of the ROCK1 gene in sepsis

Kale

Şener

Günay

et al. 2022

Rev. Assoc. Med. Bras.

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“…ROCK1 is expressed in the TM as demonstrated by a study using TM tissue derived from monkeys [196]. A study with 363 POAG patients and 213 healthy controls in Korea showed that the SNPs rs288979, rs1006881, rs35996865, rs10083915 and rs11873284 in ROCK1 are associated with an increased risk of HTG but not with NTG [108]. The ROCK1 polymorphism rs35996865 was found to have no association with POAG in a Turkish patient population [197].…”

Section: Rock1mentioning

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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“…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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Genetic Risk and Phenotype Correlation of Primary Open-Angle Glaucoma Based on Rho-Kinase Gene Polymorphisms

Cited by 5 publications

References 19 publications

Evaluation of the rs35996865 polymorphism of the ROCK1 gene in sepsis

Evaluation of the rs35996865 polymorphism of the ROCK1 gene in sepsis

The Role of Mitophagy in Glaucomatous Neurodegeneration

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

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