Details

Autor(en) / Beteiligte

• Grainger, David J
• Heathcote, Kirsten
• Chiano, Mathias
• Snieder, Harold
• Kemp, Paul R
• Metcalfe, James C
• Carter, Nicholas D
• Spector, Tim D

Titel

Genetic control of the circulating concentration of transforming growth factor type [beta]1

Ist Teil von

• Human molecular genetics, 1999-01, Vol.8 (1), p.93

Ort / Verlag

Oxford: Oxford Publishing Limited (England)

Erscheinungsjahr

1999

Quelle

Oxford Journals 2020 Medicine

Beschreibungen/Notizen

• 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-[beta]1 [(a+l) TGF-[beta]∴ is predominantly under genetic control (heritability estimate 0.54). Single strand conformation polymorphism (SSCP) mapping of the TGF-[beta]1 gene promoter has identified two single base substitution polymorphisms. The two polymorphisms (G[Right arrow]A at position -800 bp and C[Right arrow]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-[beta]1, explaining 8.2% of the additive genetic variance of (a+l) TGF-[beta]1 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.