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

Grainger, D.·1999·Human Molecular Genetics

Abstract

The concentration of transforming growth factor beta (TGF-beta) 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-beta 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-beta1 [(a+l) TGF-beta therefore is predominantly under genetic control (heritability estimate 0.54). Single strand conformation polymorphism (SSCP) mapping of the TGF-beta1 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 Delta = 0.215, P < 0.01). The C-509T polymorphism is significantly associated with the plasma concentration of (a+l) TGF-beta1, explaining 8.2% of the additive genetic variance of (a+l) TGF-beta1 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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Metadata

Authors
Grainger, D.
Venue
Human Molecular Genetics
Published
1999-01-01
Volume
8
Issue
1
Pages
93-97
ISSN
  • 0964-6906 (ISSN-L)
  • 1460-2083
OpenAlex
W2126352920
Cited by
755
References
2
FWCI
10.47
Type
journal article
Language
en
Open access
closed

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CoChat. (2026). Citation check: Genetic control of the circulating concentration of transforming growth factor type beta1. https://app.cochat.ai/papers/10.1093/hmg/8.1.93
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Grainger, D. (1999). Genetic control of the circulating concentration of transforming growth factor type beta1. Human Molecular Genetics. https://doi.org/10.1093/hmg/8.1.93

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