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)


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

Thomaes et al. BMC Genetics 2011 12:84   doi:10.1186/1471-2156-12-84

Open Data