Table 1. Studied polymorphisms for endurance performance
Gene symbolGene namers numberPolymorphism (Function)ReferenceGenotype score
Nuclear DNA
ACE angiotensin I converting enzymers4340I/D (Intron)Myerson et al. (1999)II = 2, ID = 1, DD = 0
ACTN3 actinin, alpha 3rs1815739C>T (Arg577Ter)Yang et al. (2003)TT = 2, CT = 1, CC = 0
ADRA2A adrenoceptor alpha 2Ars553668T>C (3′‐UTR)Wolfarth et al. (2000)CC = 2, CT = 1, TT = 0
ADRB2 adrenoceptor beta 2rs1042713C>G (Gln27Glu)Moore et al. (2001)CC = 2, CG = 1, GG = 0
rs1042714A>G (Arg16Gly)Wolfarth et al. (2007)AA = 2, AG = 1, GG = 0
ADRB3 adrenoceptor beta 3rs4994T>C (Trp64Arg)Santiago et al. (2011)CC = 2, CT = 1, TT = 0
APOE 1 apolipoprotein Ers429358T>C (Cys112Arg)Thompson et al. (2004)E3E4 (E4E4,E4E2)  = 2
rs7412C>T (Arg158Cys)E3E2 (E2E2)  = 1; E3E3 = 0
CKM creatine kinase, musclers8111989A>G (3′‐near gene)Rivera et al. (1997)AA = 2, AG = 1, GG = 0
COL5A1 collagen, type V, alpha 1rs12722C>T (3′‐UTR)Posthumus et al. (2011)TT = 2, CT = 1, CC = 0
GABPB1 GA‐binding protein transcription factor, beta subunit 1rs7181866A>G (Intron)Eynon et al. (2009)GG = 2, AG = 1, AA = 0
GNB3 guanine nucleotide‐binding protein (G protein), beta polypeptide 3rs5443C>T (Synonymous)Eynon et al. (2009)TT = 2, CT = 1, CC = 0
KDR kinase insert domain receptorrs1870377A>T (Gln472His)Ahmetov et al. (2009a)AA = 2, AT = 1, TT = 0
NFATC4 nuclear factor of activated T‐cells, cytoplasmic, calcineurin‐dependent 4rs2229309G>C (Gly160Ala)Ahmetov et al. (2009b)GG = 2, GC = 1, CC = 0
PPARD peroxisome proliferator‐activated receptor deltars2016520C>T (5′‐UTR)Hautala et al. (2007)TT = 2, CT = 1, CC = 0
PPARGC1A peroxisome proliferator‐activated receptor gamma, coactivator 1 alphars8192678G>A (Gly482Ser)Lucia et al. (2005)GG = 2, AG = 1, AA = 0
PPARGC1B peroxisome proliferator‐activated receptor gamma, coactivator 1 betars7732671G>C (Ala203Pro)Ahmetov et al. (2009b)not included
SLC16A1 solute carrier family 16 (monocarboxylate transporter), member 1rs1049434T>A (Asp490Glu)Cupeiro et al. (2012)AA = 2, AT = 1, TT = 0
TFAM transcription factor A, mitochondrialrs1937G>C (Ser12Thr)Ahmetov et al. (2009b)CC = 2, GC = 1, GG = 0
UCP2 uncoupling protein 2rs660339C>T (Ala55Val)Ahmetov et al. (2009b)TT = 2, CT = 1, CC = 0
UCP3 uncoupling protein 3rs1800849C>T (5′‐UTR)Ahmetov et al. (2009b)TT = 2, CT = 1, CC = 0
Mitochondrial DNA
MT‐ND2 mitochondrially encoded NADH dehydrogenase 2m.4833 (Haplogroup G)A>G (Thr122Ala)Mikami et al. (2011)G = 2, A = 0
  • Phenotype‐associated alleles in previous studies (optimal alleles) are underlined. Ala: alanine, Arg: arginine, Asp: aspartic acid, Cys: cysteine, Gln: glutamine, Glu: glutamic acid, Gly: glycine, His: histidine, Pro: proline, Ser: serine, Ter: termination codon, Thr: threonine, Trp: tryptophan, UTR: untranslated region, and Val: valine. 1GS of APOE was assigned by a combination of rs429358 and rs7412 genotypes based on Thompson et al. (2004) (PMID: 14767871): the E4 and E3 alleles, respectively, determined as “optimal” and “less optimal” for endurance phenotypes.