Table 1 Overview of the investigated genes and polymorphisms within muscular structural or functional subsystems
Sub-System | Gene | Polymorphism | Genotype frequency (n patients) | ||
|---|---|---|---|---|---|
Metabolism | adenosine monophosphate deaminase (AMPD1) | C34T/rs17602729 | CC (652) | CT (239) | TT (24) |
Muscular structure | Alpha-actinin 3 (ACTN3) | Q523R/rs1671064 | TT (303) | TC (444) | CC (176) |
R577X/rs1815739 | GG (468) | GA (386) | AA (66) | ||
Myosine light chain kinase | C49T/rs2700352 | GG (589) | AG (289) | AA (38) | |
(MLCK) | C37885A | GG (749) | GT (157) | TT (9) | |
Cytokines | Interleukin 6 (IL-6) | G-174C/rs1800795 | GG (332) | GC (411) | CC (176) |
Interleukin 15 receptor | PstI/rs2296135 | CC (238) | CA (468) | AA (206) | |
alpha (IL-15Ra) | BstNI/rs2228059 | TT (223) | GT (480) | GG (211) | |
HpaII/rs3136618 | GG (227) | GA (459) | AA (203) | ||
Growth or differentiation factors | Insulin-like growth factor 2 (IGF-II) | ApaI/rs680 | GG (448) | AG (388) | AA (80) |
Activin-type II receptor B (ACVR2B) | Rs2268757 | TT (283) | CT (468) | CC (162) | |
Follistatin (FST) | Rs3756498 | CC (605) | CT (278) | TT (30) | |
Rs12152850 | CC (606) | CT (278) | TT (35) | ||
Rs12153205 | TT (601) | CT (275) | CC (36) | ||
v-akt murine thymoma viral oncogene homolog 1 (AKT1) | G205T/rs1130214 | GG (452) | GT (377) | TT (76) | |
Neurotrophic factors | Ciliary Neurotrophic Factor (CNTF) | G-6A/rs1800169 | GG (664) | GA (226) | AA (21) |
Ciliary Neurotrophic | C-1703T/rs3808871 | CC (580) | CT (300) | TT (41) | |
Factor Receptor (CNTFR) | C174T | CC (695) | CT (187) | TT (12) | |
Hormones | Glucocorticoid Receptor | R23K/rs6190 | GG (857) | GA (54) | AA (1) |
N363S/rs6195 | AA (843) | AG (70) | GG (2) | ||
BclI/rs41423247 | CC (399) | GC (403) | GG (120) | ||