Annotation Detail

Information
Associated Genes
TNF
Associated Variants
LTA p.Cys13Arg (p.C13R) ( ENST00000454783.5, ENST00000418386.3 )
LTA p.Thr60Asn (p.T60N) ( ENST00000454783.5, ENST00000418386.3 )
NC_000006.12:g.31574699C>A
TNF c.-488G>A
NC_000006.12:g.31575324G>A
TNF c.186+123G>A ( ENST00000449264.3, ENST00000699334.1 )
LTA p.Cys13Arg (p.C13R) ( ENST00000418386.3, ENST00000454783.5 )
LTA p.Thr60Asn (p.T60N) ( ENST00000418386.3, ENST00000454783.5 )
NC_000006.12:g.31574699C>A
TNF c.-488G>A
NC_000006.12:g.31575324G>A
TNF c.186+123G>A ( ENST00000449264.3, ENST00000699334.1 )
Associated Disease
Metabolic syndrome X
Source Database
DisGeNET
Description
Six common genetic variants (rs2229094, rs1041981, rs1800630, rs1800629, rs361525, and rs1800610) in the TNF-LTA locus encoding the pro-inflammatory cytokines tumor necrosis factor-alpha (TNF-alpha) and lymphotoxin-alpha have been shown to be associated with various metabolic traits including susceptibility to type 2 diabetes, metabolic syndrome, insulin resistance, and increased body mass index (BMI) in Caucasians from different geographic locations and have yielded mixed results.
Pubmed
20177654
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.022074006161941
Year of publication
2010
Drugs