Annotation Detail
Information
- Associated Genes
- SLC6A2
- Associated Variants
-
SLC6A2 MUTATION
SLC6A2 MUTATION
SLC6A2 p.Thr429= (p.T429=) ( ENST00000567238.1, ENST00000568943.6, ENST00000561820.5, ENST00000219833.13, ENST00000566163.5, ENST00000414754.7, ENST00000379906.6 )
SLC6A2 p.Thr429= (p.T429=) ( ENST00000566163.5, ENST00000219833.13, ENST00000414754.7, ENST00000379906.6, ENST00000567238.1, ENST00000561820.5, ENST00000568943.6 )
COMT c.615+2010A>G ( ENST00000361682.11, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
HTR1A c.-1019G>C
SLC6A2 p.Thr429= (p.T429=) ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000561820.5, ENST00000566163.5, ENST00000567238.1, ENST00000568943.6 )
SLC6A2 p.Thr429= (p.T429=) ( ENST00000219833.13, ENST00000379906.6, ENST00000414754.7, ENST00000561820.5, ENST00000566163.5, ENST00000567238.1, ENST00000568943.6 )
COMT c.615+2010A>G ( ENST00000361682.11, ENST00000403710.5, ENST00000406520.7, ENST00000407537.5, ENST00000428707.2, ENST00000449653.5, ENST00000676678.1, ENST00000678255.1, ENST00000678769.1, ENST00000678868.1 )
HTR1A c.-1019G>C - Associated Disease
- major depressive disorder
- Source Database
- DisGeNET
- Description
- In self-identified white patients with major depressive disorder (N=126) treated with open-label duloxetine (60-120 mg/d), a significant association of (P=0.020) of a composite risk score (based on SLC6A2 rs5569 [G1287A] AA, HTR1A rs6295 [C(-1019)G] GG, and COMT rs174697 AA/AG) with 17-item Hamilton Depression Rating Scale total score change from baseline to 12 weeks was observed.
- Pubmed
- 22727709
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0143540816118536
- Year of publication
- 2012
Drugs