RGD Reference Report - Association of paraoxonase gene polymorphisms with diabetic nephropathy and retinopathy. - Rat Genome Database

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Association of paraoxonase gene polymorphisms with diabetic nephropathy and retinopathy.

Authors: Wang, J  Yang, MM  Rong, SS  Ng, TK  Li, YB  Liu, XM 
Citation: Wang J, etal., Mol Med Rep. 2013 Dec;8(6):1845-51. doi: 10.3892/mmr.2013.1710. Epub 2013 Oct 2.
RGD ID: 8547572
Pubmed: PMID:24100645   (View Abstract at PubMed)
DOI: DOI:10.3892/mmr.2013.1710   (Journal Full-text)

Emerging reports have revealed a potential association of paraoxonase (PON) gene polymorphisms with diabetic nephropathy (DN) and diabetic retinopathy (DR). However, the identification of susceptible genes and the quantification of associated risks are elusive owing to a lack of reproducibility. Therefore, a metaanalysis was conducted in the present study to improve the understanding of the effect of PON1 and PON2 on DN and DR. A total of 10 articles, involving 2,877 patients and 3,246 controls met the inclusion criteria. Functional variants (n=4) were evaluated, including rs662 (p.Q192R) and rs854560 (p.L55M) in PON1; and rs7493 (p.S311C) and rs12026 (p.A148G) in PON2. Overall, PON1L55M was found to be significantly associated with DR in all the genetic models: allele [odds ratio (OR)=2.42; 95% confidence interval (CI), 1.913.07]; dominant (OR=5.76; 95% CI, 3.1410.55), homozygote (OR=10.53; 95% CI, 5.5919.86), heterozygote (OR=3.62; 95% CI, 1.946.74), and recessive (OR=3.56; 95% CI, 2.614.86), with no evidence of betweenstudy heterogeneity. However, such associations were not detected in DN and the other three polymorphisms did not show any associations with DN or DR. The current metaanalysis highlighted results for the risk of association of PON155L with DR. The results also indicated that PON2 gene polymorphisms, as well as PON1Q192R, may not confer major genetic risk to DN or DR. Additional studies are required to enrich the understanding of PON genes, particularly for its functional role in DR.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PON1HumanDiabetic Nephropathies no_associationIAGP associated with Diabetes Mellitus more ...RGD 
Pon1RatDiabetic Nephropathies no_associationISOPON1 (Homo sapiens)associated with Diabetes Mellitus more ...RGD 
Pon1MouseDiabetic Nephropathies no_associationISOPON1 (Homo sapiens)associated with Diabetes Mellitus more ...RGD 
PON1Humandiabetic retinopathy susceptibilityIAGP associated with Diabetes Mellitus and DNA:missense mutation:cds:p.L55M (rs854560) (human)RGD 
Pon1Ratdiabetic retinopathy susceptibilityISOPON1 (Homo sapiens)associated with Diabetes Mellitus and DNA:missense mutation:cds:p.L55M (rs854560) (human)RGD 
Pon1Mousediabetic retinopathy susceptibilityISOPON1 (Homo sapiens)associated with Diabetes Mellitus and DNA:missense mutation:cds:p.L55M (rs854560) (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pon1  (paraoxonase 1)

Genes (Mus musculus)
Pon1  (paraoxonase 1)

Genes (Homo sapiens)
PON1  (paraoxonase 1)


Additional Information