Table 2

Genes with polymorphic variants previously reported in association with increased susceptibility to ERM or exercise heat tolerance

GeneExercise-related increased CKExercise-related muscle damageOther features/study sampleType of exercise that triggered muscle symptomsDifferential diagnosis for well-known genetic causes of RM
ACE
II>ID>DD72
YesNKHealthy young volunteers; CK assessed pre, 3, 24, 48, 72, 96, 120 and 168 hours postexerciseStrenuous eccentric contractionsNK
ACTN3 R577X60NKPrevious history of severe ERMControl group and affected patients did not perform the same amount of exerciseNKA detailed list containing the investigated disorders in people with ERM was not provided.
ACTN3
R577X73
YesNKCortisol, testosterone, IL-6, α-actin and CK assessed pre, immediately after, 2 and 4 hours postexercise
Professional athletes
EccentricNK
CCL2
rs391787874
Yes (women)Attenuated strength recovery (men)Blood samples from a previous clinical trial on topical non-steroidal anti-inflammatory
CK assessed pre, 4, 7 and 10 days postexercise
Strenuous eccentric contractionsNK
CCR2
rs3918358
rs179986574
LikelySlower recovery (women—rs3918358) and soreness (rs1799865)Blood samples from a previous clinical trial on topical non-steroidal anti-inflammatory
CK assessed pre, 4, 7 and 10 days postexercise
Strenuous eccentric contractionsNK
MYLK
49 T75
YesNoBlood samples from a previous clinical trial on topical non-steroidal anti-inflammatory
CK assessed pre, 4, 7 and 10 days postexercise
Higher baseline strength
Strenuous eccentric contractionsNK
MYLK
C37885A75
YesPostexercise strength lossBlood samples from a previous clinical trial on topical non-steroidal anti-inflammatory
CK assessed pre, 4, 7 and 10 days postexercise
Strenuous eccentric contractionsNK
MYLK
C37885A60
NKPrevious history of severe ERMControl group and affected patients did not perform the same amount of exerciseNKA detailed list containing the investigated disorders in people with ERM was not provided.
CK-MM Ncol60NKPrevious history of severe ERMControl group and affected patients did not perform the same amount of exerciseNKA detailed list containing the investigated disorders in people with ERM was not provided.
CK-MM Ncol76YesNKHealthy volunteers (86% Caucasians); CK assessed immediately, 48 and 72 hours postexerciseShort duration (6 min), moderate intensity, mostly anaerobic exerciseNK
IGF-II rs3213221 rs68077YesStrength loss and sorenessBlood samples from a previous clinical trial on topical non-steroidal anti-inflammatory
CK assessed pre, 4, 7 and 10 days postexercise
Women: no association
Strenuous eccentric contractionsNK
IGF2AS
A1364C77
YesStrength loss and sorenessBlood samples from a previous clinical trial on topical non-steroidal anti-inflammatory
CK assessed pre, 4, 7 and 10 days postexercise
Women: no association
Strenuous eccentric contractionsNK
IL-6
G174C
CC>GC>GG78
YesNKHealthy young volunteers; CK assessed pre, 3, 24, 48, 72, 96, 120 and 168 hours postexerciseStrenuous eccentric contractionsNK
TNFA G308A78Yes (GG)NKHealthy young volunteers; CK assessed pre, 3, 24, 48, 72, 96, 120 and 168 hours postexerciseStrenuous eccentric contractionsNK
RYR152 79InconsistentInconsistentSusceptibility to MH; muscle weakness (CCD)
  • CCD, central core disease; CK, creatine kinase; ERM, exertional rhabdomyolysis; IL, interleukin; NK, not known (not assessed or not described); RM, rhabdomyolysis; RYR1, type 1 ryanodine receptor.