Annotation Detail

Information
Associated Genes
MC4R
Associated Variants
BDNF p.Val148Met (p.V148M) ( ENST00000532997.5, ENST00000395981.7, ENST00000356660.9, ENST00000314915.6, ENST00000439476.6, ENST00000530861.5, ENST00000395983.7, ENST00000395986.6, ENST00000525950.5, ENST00000533246.5, ENST00000418212.5, ENST00000525528.1, ENST00000533131.5, ENST00000395978.7, ENST00000438929.5 )
FTO c.46-23525T>A ( ENST00000636491.1, ENST00000636218.1, ENST00000471389.6, ENST00000637969.1, ENST00000637001.1 )
rs17782313
rs10938397
BDNF p.Val148Met (p.V148M) ( ENST00000314915.6, ENST00000356660.9, ENST00000395978.7, ENST00000395981.7, ENST00000395983.7, ENST00000395986.6, ENST00000418212.5, ENST00000438929.5, ENST00000439476.6, ENST00000525528.1, ENST00000525950.5, ENST00000530861.5, ENST00000532997.5, ENST00000533131.5, ENST00000533246.5 )
FTO c.46-23525T>A ( ENST00000471389.6, ENST00000636218.1, ENST00000636491.1, ENST00000637001.1, ENST00000637969.1 )
rs17782313
rs10938397
Associated Disease
obesity
Source Database
DisGeNET
Description
Of 11 studied SNPs, four SNPs and genetic risk score (GRS) based on them were statistically significantly associated with central obesity by WC criteria (FTO rs9939609: OR = 1.29, 95%CI = 1.10-1.50, p = 0.001; MC4R rs17782313: OR = 1.27, 95%CI = 1.12-1.44, p = 1.32×10⁻⁴; GNPDA2 rs10938397: OR = 1.22, 95%CI = 1.09-1.37, p = 4.09×10⁻⁴; BDNF rs6265: OR = 1.20, 95%CI = 1.08-1.34, p = 8.86×10⁻⁴; GRS: OR = 1.25, 95%CI 1.16-1.34, p = 2.58×10⁻⁹) after adjustment for sex, age, pubertal stage, physical activity and family history of obesity.
Pubmed
23424664
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.790574886740879
Year of publication
2013
Drugs