Annotation Detail
Information
- Associated Genes
- THBS4
- Associated Variants
-
CETP c.118+279G>A
(
ENST00000200676.8,
ENST00000379780.6,
ENST00000566128.1 )
CYBA p.Tyr72His (p.Y72H) ( ENST00000696162.1, ENST00000696157.1, ENST00000696161.1, ENST00000696156.1, ENST00000261623.8, ENST00000696158.1, ENST00000569359.5, ENST00000696163.1, ENST00000696159.1, ENST00000567174.5, ENST00000696160.1 )
THBS4 p.Ala387Pro (p.A387P) ( ENST00000350881.6, ENST00000511733.1 )
CETP c.118+279G>A ( ENST00000200676.8, ENST00000379780.6, ENST00000566128.1 )
CYBA p.Tyr72His (p.Y72H) ( ENST00000261623.8, ENST00000567174.5, ENST00000569359.5, ENST00000696156.1, ENST00000696157.1, ENST00000696158.1, ENST00000696159.1, ENST00000696160.1, ENST00000696161.1, ENST00000696162.1, ENST00000696163.1 )
THBS4 p.Ala387Pro (p.A387P) ( ENST00000350881.6, ENST00000511733.1 ) - Associated Disease
- Cardiovascular Diseases
- Source Database
- DisGeNET
- Description
- Thrombospondin-4 (TSP-4), a matricellular protein of vessel walls associated with inflammation, was investigated in terms of CVD risk using multivariable modelling with a well-characterised functional genetic polymorphism of THBS4 (A387P, rs1866389) along with previously demonstrated risk-related functional genetic polymorphisms of CYBA (C242T, rs4673) and CETP (TaqIB, rs708272), and a set of blood markers.
- Pubmed
- 22011848
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2011
Drugs