RGD Reference Report - Single nucleotide polymorphisms of metabolic syndrome-related genes in primary open angle glaucoma. - Rat Genome Database

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Single nucleotide polymorphisms of metabolic syndrome-related genes in primary open angle glaucoma.

Authors: Zhou, G  Liu, B 
Citation: Zhou G and Liu B, Int J Ophthalmol. 2010;3(1):36-42. doi: 10.3980/j.issn.2222-3959.2010.01.09. Epub 2010 Mar 18.
RGD ID: 8547563
Pubmed: PMID:22553514   (View Abstract at PubMed)
PMCID: PMC3340651   (View Article at PubMed Central)
DOI: DOI:10.3980/j.issn.2222-3959.2010.01.09   (Journal Full-text)

AIM: To analyze single nucleotide polymorphisms (SNP) of primary open angle glaucoma- and metabolic syndrome-related genes in primary open angle glaucoma (POAG), in order to elucidate the roles of metabolic syndrome as a risk factor in POAG progress. METHODS: SNP genotypes and alleles of interleukin-6 (IL-6), IL-6 receptor (IL-6R), dopamine D(2) receptor (DRD(2)), beta-fibrinogen (FGB), peroxisome proliferator-activated receptor-gamma2 (PPARG), transforming growth factor-beta1 (TGF-beta1), E-selectin (E-Sel), apolipoprotein A-5 (APOA5), C-reactive protein (CRP), ectonueleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), hepatic lipase (LIPC), adiponectin (ADIPOQ), paraoxonase 1 (PON1) and serine protease inhibitor E (SERPINE1) genes in POAG (n=37) and normal control (n=100) groups were measured with ABI Prism 7900HT Fluorescence Quantitative PCR and TaqMan SNP Genotyping fluorescence probe kit. RESULTS: Genotypes and allele frequencies of IL-6R, IL-6, FGB, CRP, ENPP1, LIPC, ADIPOQ, PON1, and SERPINE1 in total POAG group were significantly different compared to the control group. CONCLUSION: Metabolic syndrome as a risk factor for POAG may be associated with genotypes and allele frequencies of the related genes. The corresponding gene expression and function can affect POAG progress, including roles of SERPINE1 in extracellular matrix, ENPP1 in insulin inhibition, IL-6 in endogenous neuroprotection, IL-6, IL-6R and E-Sel in autoimmune response, LIPC and FGB in blood hyperviscosity syndrome, ADIPOQ in NOS/NO production, PON1 in vascular endothelial protection.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
primary open angle glaucoma  IAGP 8547563DNA:SNP: :rs2241766 (human)RGD 
primary open angle glaucoma  ISOADIPOQ (Homo sapiens)8547563; 8547563DNA:SNP: :rs2241766 (human)RGD 
primary open angle glaucoma susceptibilityIAGP 8547563DNA:snp:cds:p.Q192R (rs662) (human)RGD 
primary open angle glaucoma susceptibilityISOPON1 (Homo sapiens)8547563; 8547563DNA:snp:cds:p.Q192R (rs662) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal optic disc morphology susceptibilityIAGP 8547563DNA:snp:cds:p.Q192R (rs662)RGD 
Ocular hypertension susceptibilityIAGP 8547563DNA:snp:cds:p.Q192R (rs662)RGD 
Visual field defect susceptibilityIAGP 8547563DNA:snp:cds:p.Q192R (rs662)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Adipoq  (adiponectin, C1Q and collagen domain containing)
Pon1  (paraoxonase 1)

Genes (Mus musculus)
Adipoq  (adiponectin, C1Q and collagen domain containing)
Pon1  (paraoxonase 1)

Genes (Homo sapiens)
ADIPOQ  (adiponectin, C1Q and collagen domain containing)
PON1  (paraoxonase 1)


Additional Information