Association of Interleukin 1β and Receptor Antagonist Gene Polymorphisms with Primary Open-Angle Glaucoma

Lin, Hui Ju; Tsai, San Chang; Tsai, Fuu Jen; Chen, Wen Chi; Tsai, Jeffery J.P.; Hsu, Cheng Der

doi:10.1159/000071352

Cited by 26 publications

(18 citation statements)

References 18 publications

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“…In our laboratory, we investigated the relations of many polymorphisms with apoptosis, immune and cell morphogenesis. We have already found some single nucleotide polymorphisms (SNPs) associated with POAG [3,4] , and we tried to map POAG with genetic polymorphisms. E-cadherin (E-CDH) is closely related to matrix metalloproteinases (MMPs) involved in the outfl ow of aqueous humor in trabecular meshwok.…”

Section: Introductionmentioning

confidence: 99%

Association of E-Cadherin Gene 3’-UTR C/T Polymorphism with Primary Open Angle Glaucoma

et al. 2005

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Purpose: E-cadherin (E-CDH) is one of the most important cell surface glycoproteins involved in cell morphogenesis. In primary open angle glaucoma (POAG), the extracellular matrixes of trabecular meshwork and lamina cribrosa in the optic nerve head are out of balance. We suspected that E-CDH by way of metalloproteinases is closely related to POAG. We therefore investigated the relationship between CDH-1 gene 3′ untranslated region (3′-UTR) polymorphism and POAG patients in order to support this hypothesis. Patients and Methods: We enrolled 60 POAG patients and 103 healthy volunteers from the Department of Ophthalmology at the China Medical University Hospital, Taichung, Taiwain, ROC. None of the control subjects had a history of eye disease and all underwent the same examination as the POAG patients. PCR-based analysis of the restriction fragment length polymorphism was used to test the CDH-1 gene 3′-UTR polymorphism. All statistical analyses were performed by the χ² test. Result: There was a significant difference in the distribution of the CDH-1 gene 3′-UTR C/T polymorphism between POAG patients and the normal controls (p <0.000). The odds ratio of the ‘C’ allele was al so significantly different between both groups (odds ratio = 5.510, 95% confidence interval = 3.171–9.574). Conclusion: CDH-1 is closely related to metalloproteinase and plays an important but not well-understood role in the onset and progression of POAG. The exact role of CDH-1 in POAG could be resolved by the posttranslated products of the gene and the protein-protein interaction of the gene products in the future.

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Section: Introductionmentioning

confidence: 99%

Association of E-Cadherin Gene 3’-UTR C/T Polymorphism with Primary Open Angle Glaucoma

et al. 2005

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“…The interleukin-1 gene cluster [37] (including IL-1B) lies approximately 0.5 cM beyond the distal end of the GLC1B haplotype identifi ed in this study. A polymorphism within IL-1B has recently been associated with sporadic POAG in the Chinese population [38] , although investigation of this polymorphism showed no segregation with the POAG phenotype in pedigree GTas15 (data not shown). It is also interesting to note that mer tyrosine kinase protooncogene ( MERTK : MIM# 604705), a gene associated with retinitis pigmentosa [39] (a disease that also results in visual fi eld loss) is located near marker D2S2269 at the distal end of the haplotype of interest.…”

Section: Discussionmentioning

confidence: 94%

Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family

et al. 2005

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Primary open-angle glaucoma (POAG) is genetically heterogeneous, with 6 named POAG loci GLC1A-F mapped and genes myocilin (MYOC) and optineurin (OPTN) identified at 2 of the loci. Using penetrance-model-free methods, we screened the POAG loci GLC1A-F in an extended Australian pedigree, using 3–5 markers within each locus. p values of less than 0.05 were obtained empirically using SimWalk2 and exactly using Genehunter for 2 markers within the GLC1B region on chromosome 2. Fine mapping of this region produced pvalues of 0.01 or less at 5 markers flanked by D2S1897 and D2S2269. The 9 cM haplotype of interest overlaps the original GLC1B region. These results provide supportive evidence for the GLC1B locus on chromosome 2cen-q13 and verify the existence of POAG susceptibility gene in this region, increasing the likelihood of gene identification.

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“…Our previous studies reported that the IL-1α (-889) T allele polymorphism may be a risk factor in POAG patients but not in NTG patients [22,38] . Lin et al [39] found that the IL-1β (+3953)T allele was significantly more common in POAG patients but not in NTG patients [40] . In future studies, proteomic analyses may be useful for determining the exact roles of cytokines genes in the development of glaucoma.…”

Section: Discussionmentioning

confidence: 99%

Analysis of the Interleukin-6 (-174) Locus Polymorphism and Serum IL-6 Levels with the Severity of Normal Tension Glaucoma

Wang

Liang²,

Feng³

et al. 2017

Ophthalmic Res

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Purpose: In normal tension glaucoma (NTG), factors other than elevated intraocular pressure are likely to have a role in the pathogenesis of optic neuropathy. Recent studies of glaucoma or retinal ganglion cells (RGCs) reveal that the cytokine interleukin-6 (IL-6) is linked to the pathogenesis of glaucoma and may regulate RGC survival or death. The IL-6 (-174) G allele has also been shown to increase the IL-6 protein. We hypothesized that the IL-6 (-174) polymorphism may be a predisposing genetic factor affecting the severity of glaucoma. The aim of the present study was to evaluate the IL-6 polymorphism and serum IL-6 levels as a potential risk factor related to the severity of NTG. Methods: A total of 256 subjects with NTG in the Chinese population were enrolled. The patients were genotyped for the IL-6 (-174) C/G polymorphism. Genomic DNA was amplified by a polymerase chain reaction, followed by the enzymatic restriction fragment length polymorphism technique. Serum IL-6 levels were measured by ELISA. Patient age at diagnosis, cup/disc (C/D) ratio, rim area (RA), retinal nerve fiber layer (RNFL) thickness, and visual field (VF) were analyzed. The associations between genotypes of IL-6 (-174) C/G and the clinical parameters were calculated using a logistic regression. Results: The IL-6 (-174) GC genotype in NTG patients was significantly associated with a smaller C/D ratio (p = 0.04), larger RA (p = 0.04), and thicker RNFL (p = 0.05) compared with IL-6 (-174) GG patients. The allele frequency of IL-6 (-174) C was significantly higher in the NTG patients at an early-moderate stage than at an advanced stage according to the C/D ratio (OR 0.55; 95% CI 0.31-0.99). Pattern standard deviation of VF was borderline lower in IL-6 (-174) GC patients (p = 0.06), and serum IL-6 levels were borderline higher in advanced stages than in early-moderate stages (7.66 ± 3.22 vs. 4.46 ± 3.83 pg/mL; p = 0.06). Conclusion: The IL-6 (-174) GC genotype is associated with a smaller C/D ratio, larger RA, and thicker RNFL compared with IL-6 (-174) GG in NTG patients. We found that the IL-6 (-174) G/C polymorphism and serum IL-6 levels may be associated with the severity of NTG.

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Association of Interleukin 1β and Receptor Antagonist Gene Polymorphisms with Primary Open-Angle Glaucoma

Cited by 26 publications

References 18 publications

Association of E-Cadherin Gene 3’-UTR C/T Polymorphism with Primary Open Angle Glaucoma

Association of E-Cadherin Gene 3’-UTR C/T Polymorphism with Primary Open Angle Glaucoma

Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family

Analysis of the Interleukin-6 (-174) Locus Polymorphism and Serum IL-6 Levels with the Severity of Normal Tension Glaucoma

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