RGD Reference Report - Association of transforming growth factor-beta1 gene polymorphisms with myocardial infarction in patients with angiographically proven coronary heart disease. - Rat Genome Database

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Association of transforming growth factor-beta1 gene polymorphisms with myocardial infarction in patients with angiographically proven coronary heart disease.

Authors: Koch, W  Hoppmann, P  Mueller, JC  Schomig, A  Kastrati, A 
Citation: Koch W, etal., Arterioscler Thromb Vasc Biol. 2006 May;26(5):1114-9. Epub 2006 Mar 16.
RGD ID: 1601560
Pubmed: PMID:16543493   (View Abstract at PubMed)
DOI: DOI:10.1161/01.ATV.0000217747.66517.11   (Journal Full-text)

OBJECTIVE: Transforming growth factor (TGF)-beta1 (TGF-beta1) is a multifunctional cytokine that exhibits vasculoprotective properties. Production and plasma levels of TGF-beta1 are influenced by polymorphisms in the TGF-beta1 gene (TGFB1). We investigated whether the -509C/T (rs1800469), 868T/C (rs1982073), 913G/C (rs1800471), and 11929C/T (rs1800472) polymorphisms of TGFB1 are associated with myocardial infarction. METHODS AND RESULTS: The study population consisted of 3657 patients with myocardial infarction (885 women and 2772 men) and 1211 control individuals (598 women and 613 men) with angiographically normal coronary arteries and without signs or symptoms of myocardial infarction. Polymorphism-related genotypes were determined with TaqMan assays and haplotypes were estimated from the genotype data. The -509C/T polymorphism and -509C/868T/913G/11929C (CTGC) haplotype were associated with myocardial infarction in men, independently from the potentially confounding factors age, arterial hypertension, hypercholesterolemia, cigarette smoking, and diabetes mellitus. Lower risks of myocardial infarction were observed among the carriers of the -509CC genotype (adjusted odds ratio [OR], 0.49; 95% confidence interval [CI], 0.27 to 0.87; P=0.014) and homozygous carriers of the CTGC haplotype (adjusted OR, 0.61; 95% CI, 0.38 to 0.98; P=0.042) than among the noncarriers of this genotype or haplotype. None of the genotypes (P> or =0.37) or haplotypes (P> or =0.35) was associated with myocardial infarction in women. CONCLUSIONS: Positive association findings in this study suggest that TGFB1 is a susceptibility locus for myocardial infarction.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
myocardial infarction susceptibilityIAGP 1601560associated with Coronary Disease and DNA:polymorphism:promoter:-509C>T (human)RGD 
myocardial infarction susceptibilityISOTGFB1 (Homo sapiens)1601560; 1601560associated with Coronary Disease and DNA:polymorphism:promoter:-509C>T (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tgfb1  (transforming growth factor, beta 1)

Genes (Mus musculus)
Tgfb1  (transforming growth factor, beta 1)

Genes (Homo sapiens)
TGFB1  (transforming growth factor beta 1)


Additional Information