RGD Reference Report - A419C (E111A) polymorphism of the glyoxalase I gene and vascular complications in chronic hemodialysis patients. - Rat Genome Database

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A419C (E111A) polymorphism of the glyoxalase I gene and vascular complications in chronic hemodialysis patients.

Authors: Kalousova, M  Germanova, A  Jachymova, M  Mestek, O  Tesar, V  Zima, T 
Citation: Kalousova M, etal., Ann N Y Acad Sci. 2008 Apr;1126:268-71. Epub 2007 Dec 13.
RGD ID: 7242571
Pubmed: PMID:18079478   (View Abstract at PubMed)
DOI: DOI:10.1196/annals.1433.012   (Journal Full-text)

Advanced glycation end products (AGEs) take part in the pathogenesis of vascular, diabetic, and uremic complications. Their precursors are detoxified by the glyoxalase system. Our aim was to study A419C (E111A) single nucleotide polymorphism (SNP) of the glyoxalase I gene in hemodialysis (HD) patients. A419C SNP, several laboratory parameters including soluble receptor for AGEs (sRAGE), and clinical data were studied in 214 HD patients and 89 controls. Allelic and genotypic frequencies did not differ between HD patients and controls. A419C SNP was significantly linked with serum sRAGE, which sensitively reflects the AGE burden of the organism (3986 +/- 1638 pg/mL in the CC variant versus 3277 +/- 1398 pg/mL in the AC variant and 3297 +/- 1445 pg/mL in the AA variant, P < 0.01). In the CC variant, significantly higher prevalence of cardiovascular disease and peripheral vascular disease was found, while the prevalence of hypertension, diabetes mellitus, and dyslipidemia did not differ between genotypes. In summary, in this study we demonstrate for the first time the association of A419C polymorphism of the glyoxalase I gene with sRAGE levels and show the genetic predisposition to vascular complications in HD patients.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
vascular disease  IAGP 7242571DNA:SNP: :419C>A (human)RGD 
vascular disease  ISOGLO1 (Homo sapiens)7242571; 7242571DNA:SNP: :419C>A (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Glo1  (glyoxalase 1)

Genes (Mus musculus)
Glo1  (glyoxalase 1)

Genes (Homo sapiens)
GLO1  (glyoxalase I)


Additional Information