RGD Reference Report - Genetic polymorphisms in genes encoding antioxidant enzymes are associated with diabetic retinopathy in type 1 diabetes. - Rat Genome Database

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Genetic polymorphisms in genes encoding antioxidant enzymes are associated with diabetic retinopathy in type 1 diabetes.

Authors: Hovnik, T  Dolzan, V  Bratina, NU  Podkrajsek, KT  Battelino, T 
Citation: Hovnik T, etal., Diabetes Care. 2009 Dec;32(12):2258-62. doi: 10.2337/dc09-0852. Epub 2009 Sep 14.
RGD ID: 7495818
Pubmed: PMID:19752172   (View Abstract at PubMed)
PMCID: PMC2782987   (View Article at PubMed Central)
DOI: DOI:10.2337/dc09-0852   (Journal Full-text)

OBJECTIVE: Oxidative stress plays an important role in the development of microangiopathic complications in type 1 diabetes. We investigated polymorphic markers in genes encoding enzymes regulating production of reactive oxygen species in association with diabetic retinopathy or diabetic nephropathy. RESEARCH DESIGN AND METHODS: A total of 124 patients with type 1 diabetes were investigated in this case-control study. All subjects were matched for sex, age, and duration of diabetes. Genotyping was conducted using real-time PCR for p.Val16Ala polymorphism in the MnSOD gene and c.C-262T in the promoter region of the CAT gene. Multiplex PCR method was used for determination of GSTM1 and GSTT1 polymorphic deletions. Fluorescence-labeled PCR amplicons and fragment analysis was used for assessing the number of pentanucleotide (CCTTT)n repeats in inducible nitric oxide synthase. RESULTS: A positive association of MnSOD genotype Val/Val (odds ratio [OR] 2.49, 95% CI 1.00-6.16, P = 0.045) and GSTM1-1 genotype (2.63, 1.07-6.47, P = 0.031) with diabetic retinopathy but not with diabetic nephropathy was demonstrated. Additionally, the combination of the two genotypes conveyed an even higher risk (4.24, 1.37-13.40, P = 0.009). No other investigated genetic polymorphisms were associated with either diabetic retinopathy or diabetic nephropathy. CONCLUSIONS: Selected polymorphisms in genes encoding MnSOD and GSTM1 could be added to a panel of genetic markers for identification of individuals with type 1 diabetes at an increased risk for developing diabetic retinopathy.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Diabetic Nephropathies no_associationIAGP 7495818associated with Diabetes Mellitus more ...RGD 
Diabetic Nephropathies no_associationIAGP 7495818associated with Diabetes Mellitus more ...RGD 
Diabetic Nephropathies no_associationISOGSTM1 (Homo sapiens)7495818; 7495818associated with Diabetes Mellitus more ...RGD 
Diabetic Nephropathies no_associationISOGSTT1 (Homo sapiens)7495818; 7495818associated with Diabetes Mellitus more ...RGD 
diabetic retinopathy susceptibilityIAGP 7495818associated with Diabetes Mellitus more ...RGD 
diabetic retinopathy no_associationIAGP 7495818associated with Diabetes Mellitus more ...RGD 
diabetic retinopathy susceptibilityISOGSTM1 (Homo sapiens)7495818; 7495818associated with Diabetes Mellitus more ...RGD 
diabetic retinopathy no_associationISOGSTT1 (Homo sapiens)7495818; 7495818associated with Diabetes Mellitus more ...RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal posterior segment imaging susceptibilityIAGP 7495818associated with Diabetes Mellitus more ...RGD 
Abnormal posterior segment imaging no_associationIAGP 7495818associated with Diabetes Mellitus more ...RGD 
Moderate albuminuria no_associationIAGP 7495818; 7495818associated with Diabetes Mellitus more ...RGD 
Objects Annotated

Genes (Rattus norvegicus)
Gstm1  (glutathione S-transferase mu 1)
Gstt1  (glutathione S-transferase theta 1)

Genes (Mus musculus)
Gstm1  (glutathione S-transferase, mu 1)
Gstt1  (glutathione S-transferase, theta 1)

Genes (Homo sapiens)
GSTM1  (glutathione S-transferase mu 1)
GSTT1  (glutathione S-transferase theta 1)

Objects referenced in this article
Gene Gstm2 glutathione S-transferase, mu 2 Mus musculus
Gene Gstm2 glutathione S-transferase mu 2 Rattus norvegicus

Additional Information