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Table 1 Overview of the investigated genes and polymorphisms within muscular structural or functional subsystems

From: A genetic predisposition score for muscular endophenotypes predicts the increase in aerobic power after training: the CAREGENE study

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)
  1. Genotype frequencies (N) in the CAREGENE study included in brackets