RGD Reference Report - Association of Pro12Ala polymorphism in peroxisome proliferator activated receptor gamma with proliferative diabetic retinopathy. - Rat Genome Database

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Association of Pro12Ala polymorphism in peroxisome proliferator activated receptor gamma with proliferative diabetic retinopathy.

Authors: Tariq, K  Malik, SB  Ali, SH  Maqsood, SE  Azam, A  Muslim, I  Khan, MS  Azam, M  Waheed, NK  Qamar, R 
Citation: Tariq K, etal., Mol Vis. 2013;19:710-7. Epub 2013 Mar 21.
RGD ID: 8552820
Pubmed: PMID:23559865   (View Abstract at PubMed)
PMCID: PMC3611930   (View Article at PubMed Central)

PURPOSE: The association of non-synonymous substitution polymorphism rs1801282 (c.34C>G, p.Pro12Ala) in exon 4 of the peroxisome proliferator activated receptor gamma gene with diabetic retinopathy (DR) has been reported inconsistently. Therefore, the purpose of the present study was to understand the population-specific role of the Pro12Ala polymorphism in DR susceptibility in Pakistani subjects. METHODS: A total of 180 subjects with DR, 193 subjects with type 2 diabetes mellitus (T2DM) with no diabetic retinopathy, and 200 healthy normoglycemic non-retinopathic Pakistani individuals were genotyped for the rs1801282 (c.34C>G) polymorphism using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: We found the individuals with T2DM carrying 12Ala were at a reduced risk of developing DR (odds ratio [OR]=0.53; 95% confidence interval [CI]=0.33-0.87). Upon stratified analysis regarding disease severity, we observed this protective effect was confined to proliferative DR (OR=0.4; 95% CI=0.2-0.8) with non-significant effects on the susceptibility of non-proliferative DR (OR=0.67; 95% CI=0.37-1.19). CONCLUSIONS: We report a protective role of the 12Ala polymorphism against proliferative DR in individuals with T2DM in Pakistan.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
proliferative diabetic retinopathy susceptibilityIAGP 8552820DNA:snp:cds:p.P12A (rs1801282) (human)RGD 
proliferative diabetic retinopathy susceptibilityISOPPARG (Homo sapiens)8552820; 8552820DNA:snp:cds:p.P12A (rs1801282) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Abnormal retinal vascular morphology susceptibilityIAGP 8552820DNA:snp:cds:p.P12A (rs1801282)RGD 
Hyperglycemia susceptibilityIAGP 8552820DNA:snp:cds:p.P12A (rs1801282)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Pparg  (peroxisome proliferator-activated receptor gamma)

Genes (Mus musculus)
Pparg  (peroxisome proliferator activated receptor gamma)

Genes (Homo sapiens)
PPARG  (peroxisome proliferator activated receptor gamma)


Additional Information