Gene |
Polymorphism (rs) |
Base substitution |
Amino acids substitution |
Variant |
Functional consequences |
Reference |
ADRB1 |
rs1801252 |
A231G |
Ser49Gly |
231G |
↑ receptor down regulation |
[38] |
(10q24-26) |
rs1801253 |
G1251C |
Gly389Arg |
1251C |
↑ interaction with G protein |
[39] |
|
|
|
|
|
↑ response to antagonists |
[40] |
ADRB2 |
rs1042711 |
T-47C |
Arg19Cys |
-47C |
↓ADRB2 expression |
[31] |
(5q31-32) |
|
|
|
|
↓ interaction with G protein |
[31] |
|
rs1042713 |
A285G |
Arg16Gly |
285G |
↑ receptor down regulation |
[20] |
|
rs1042714 |
C318G |
Gln27Glu |
318G |
↓ receptor down regulation |
[20] |
|
|
|
|
|
↓ receptor degradation |
[20] |
|
rs1800888 |
C730T |
Thr164Ile |
730T |
↓ affinity towards ligands |
[28] |
|
|
|
|
|
↓ interaction with G protein |
[28] |
ADRB3(8p12) |
rs4994 |
T190C |
Trp64Arg |
190C |
↓response to gonists
↓ lipolysis |
[34,36] [34,36] |