Genetic control of the circulating concentration of transforming growth factor type beta1

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ID: 305957
1999
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Abstract
The concentration of transforming growth factor β (TGF-β) in plasma has been correlated with the development of several diseases, including atherosclerosis and certain forms of cancer. However, the mechanisms that control the concentration of TGF-β in plasma are poorly understood. In a study of 170 pairs of female twins (average age 57.7 years) we show that the concentration of active plus acid-activatable latent TGF-β1 [(a+l) TGF-β ∴ is predominantly under genetic control (heritability estimate 0.54). Single strand conformation polymorphism (SSCP) mapping of the TGF-β1 gene promoter has identified two single base substitution polymorphisms. The two polymorphisms (G→A at position-800 bp and C→T at position-509 bp) are in linkage disequilibrium (correlation coefficient Δ = 0.215, P < 0.01). The C-509T polymorphism is significantly associated with the plasma concentration of (a+l) TGF-β1, explaining 8.2% of the additive genetic variance of (a+l) TGF-β1 concentration. It is therefore possible that predisposition to atherosclerosis, bone diseases or various forms of cancer may be correlated with the presence of particular alleles at the TGFB1 locus.
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openalex_W2126352920 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors David J. Grainger
Journal Human molecular genetics
Year 1999
DOI
10.1093/hmg/8.1.93
URL
https://doi.org/10.1093/hmg/8.1.93
Keywords Keywords not found

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