RGD Reference Report - Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma. - Rat Genome Database

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Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.

Authors: Funayama, T  Ishikawa, K  Ohtake, Y  Tanino, T  Kurosaka, D  Kimura, I  Suzuki, K  Ideta, H  Nakamoto, K  Yasuda, N  Fujimaki, T  Murakami, A  Asaoka, R  Hotta, Y  Tanihara, H  Kanamoto, T  Mishima, H  Fukuchi, T  Abe, H  Iwata, T  Shimada, N  Kudoh, J  Shimizu, N  Mashima, Y 
Citation: Funayama T, etal., Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4359-67.
RGD ID: 7775041
Pubmed: PMID:15557444   (View Abstract at PubMed)
DOI: DOI:10.1167/iovs.03-1403   (Journal Full-text)

PURPOSE: To investigate sequence variations in the optineurin (OPTN) gene and their association with TNF-alpha polymorphisms in Japanese patients with glaucoma. METHODS: The OPTN gene was analyzed in blood samples from 629 Japanese subjects. There were 194 patients with primary open-angle glaucoma (POAG), 217 with normal-tension glaucoma (NTG), and 218 with no eye disease (control subjects). The gene was screened for mutations by denaturing high-performance liquid chromatography. Genotyping of three polymorphisms of -308G-->A, -857C-->T, and -863C-->A in the TNF-alpha promoter region was performed. The associations between the genotypes and age, intraocular pressure (IOP), and visual field defects at the time of diagnosis were examined. RESULTS: A possible glaucoma-causing mutation, His26Asp, was identified in 1 of the 411 Japanese patients with glaucoma. A c.412G-->A (Thr34Thr) polymorphism in the OPTN gene was significantly associated with POAG (genotype frequency, P = 0.011; allele frequency, P = 0.003). The frequency of TNF-alpha/-857T and optineurin/412A carriers was significantly higher (P = 0.006) in patients with POAG than in control subjects. Among the patients with POAG who were carriers of TNF-alpha/-857T, the optineurin/412A carriers had significantly worse (P = 0.020) visual field scores than the non-optineurin/412A ones. The frequency of TNF-alpha/-863A and optineurin/603A (or Lys98) carriers was significantly higher in patients with POAG (P = 0.008) or NTG (P = 0.027) than in control subjects. Among the patients with POAG who were carriers of TNF-alpha/-863A, the ones with optineurin/603A (or Lys98) had significantly worse (P = 0.026) visual field scores than did those with non-optineurin/603A (or Lys98). CONCLUSIONS: These findings demonstrated that the OPTN gene is associated with POAG rather than NTG in the Japanese. Statistical analysis showed a possible interaction between polymorphisms in the OPTN and the TNF-alpha genes that would increase the risk for glaucoma.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
low tension glaucoma susceptibilityIAGP 7775041DNA:polymorphisms more ...RGD 
low tension glaucoma susceptibilityISOOPTN (Homo sapiens)7775041; 7775041DNA:polymorphisms more ...RGD 
low tension glaucoma  IAGP 7775041DNA:polymorphism and haplotype:promoter: -863C>A (human)RGD 
low tension glaucoma  ISOTNF (Homo sapiens)7775041; 7775041DNA:polymorphism and haplotype:promoter: -863C>A (human)RGD 
primary open angle glaucoma susceptibilityIAGP 7775041DNA:polymorphisms more ...RGD 
primary open angle glaucoma susceptibilityISOOPTN (Homo sapiens)7775041; 7775041DNA:polymorphisms more ...RGD 
primary open angle glaucoma  IAGP 7775041DNA:polymorphisms more ...RGD 
primary open angle glaucoma  ISOTNF (Homo sapiens)7775041; 7775041DNA:polymorphisms more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Optn  (optineurin)
Tnf  (tumor necrosis factor)

Genes (Mus musculus)
Optn  (optineurin)
Tnf  (tumor necrosis factor)

Genes (Homo sapiens)
OPTN  (optineurin)
TNF  (tumor necrosis factor)


Additional Information