Annotation Detail

Information
Associated Genes
FABP2
Associated Variants
FABP2 p.Thr55Ser (p.T55S) ( ENST00000274024.4 )
FABP2 p.Thr55Ala (p.T55A) ( ENST00000274024.4 )
FABP2 p.Thr55Pro (p.T55P) ( ENST00000274024.4 )
FABP2 p.Thr55Ser (p.T55S) ( ENST00000274024.4 )
FABP2 p.Thr55Ala (p.T55A) ( ENST00000274024.4 )
FABP2 p.Thr55Pro (p.T55P) ( ENST00000274024.4 )
Associated Disease
Impaired glucose tolerance
Source Database
DisGeNET
Description
(1) The Ala54 and Thr54 allele frequencies in Chinese were 0.71 and 0.29 respectively; (2) The FABP2-Ala54Thr variation was neither associated with fasting and post-challenged plasma glucose levels nor with NIDDM; (3) This variation was neither associated with fasting lipid profile nor with obesity; (4) The IGT subjects with genotype Thr54(+) (Thr54 homozygotes and heterozygotes) had lower fasting, 2-hour and total C-peptide levels and smaller AUC representing lesser C-peptide secretion after glucose challenge than those with genotype Thr54(-) (Ala54 homozygotes) (P = 0.04, 0.03, 0.01 and 0.01 respectively).
Pubmed
11593593
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
1999
Drugs