RGD Reference Report - Transporter associated with antigen processing gene 1 codon 333 and codon 637 polymorphisms are associated with primary open-angle glaucoma. - Rat Genome Database

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Transporter associated with antigen processing gene 1 codon 333 and codon 637 polymorphisms are associated with primary open-angle glaucoma.

Authors: Lin, HJ  Tsai, CH  Tsai, FJ  Chen, WC  Chen, HY  Fan, SS 
Citation: Lin HJ, etal., Mol Diagn. 2004;8(4):245-52.
RGD ID: 6482266
Pubmed: PMID:15887980   (View Abstract at PubMed)

INTRODUCTION: Genetic factors in the immune system are widely suspected to have a role in the etiology of glaucoma. In this study, we evaluated the association between primary open-angle glaucoma (POAG) and the transporter associated with antigen processing (TAP) gene polymorphisms. The TAP gene polymorphisms we evaluated were TAP1-1 codon 333 A/G (Ile-Val), TAP1-2 codon 637 (Asp-Gly), TAP2-1 codon 379 (Val-Ile), TAP2-2 codon 665 (Thr-Ala) and codon 687 (Stop-Gln), and TAP2-3 codon 565 (Ala-Tht). Due to the lack of predictive markers for glaucoma, many glaucoma patients are only diagnosed when their visual acuity and visual field has irreversibly deteriorated. Our aim was to confirm whether or not the TAP1 and TAP2 genes can be used to identify suspectability to glaucoma. METHODS: Sixty-six patients with POAG and 105 healthy volunteers were enrolled in this case-control study. We resolved the TAP1 and TAP2 gene polymorphisms by PCR-based analysis. RESULTS: There was a significant difference in the distribution of TAP1-1 codon 333 and TAP1-2 codon 637 gene polymorphisms (p = 0.0375 and 0.01, respectively) between POAG patients and healthy controls. However, there was no significant difference between the two groups in TAP2-1 codon 370, TAP2-2 codon 665, and TAP2-3 codon 565 (p = 0.273, 0.19, and 0.131, respectively). In TAP1-1 codon 333, there was a significant difference between the "GG" homozygote and "GA" heterozygote (OR 4.32; 95% CI 1.336, 13.969). In TAP1-2 codon 637, there was a significant difference between the "GG" homozygote and "GA" heterozygote (OR 15; 95% CI 1.733, 129.860). There was also a significant difference between "GG" homozygote and "AA" homozygote (OR 10.8; 95% CI 1.286, 91.880). Therefore, TAP1-1 codon 333 and TAP1-2 codon 637 gene polymorphisms were useful genetic markers of POAG. The prevalence of the TAP1-2 "GG" homozygote differs significantly between POAG patients and healthy controls, although in the alleles of the both TAP genes, there were no significant differences between the two groups. CONCLUSION: The immune system acts as an arbiter to help determine whether under stress a neuronal cell will survive or sacrifice itself to injuries. TAP1-1 and TAP1-2 play an important role in the immune system. TAP1-1 and TAP1-2 gene polymorphisms may, by way of post-transcriptional changes and altered regulation of gene expression, be involve the immune system in the development of POAG.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
open-angle glaucoma susceptibilityIAGP 6482266DNA:SNPs: :p. I333V and D637G (human)RGD 
open-angle glaucoma susceptibilityISOTAP1 (Homo sapiens)6482266; 6482266DNA:SNPs: :p. I333V and D637G (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tap1  (transporter 1, ATP binding cassette subfamily B member)

Genes (Mus musculus)
Tap1  (transporter 1, ATP-binding cassette, sub-family B (MDR/TAP))

Genes (Homo sapiens)
TAP1  (transporter 1, ATP binding cassette subfamily B member)


Additional Information