Table 1.

Genetic markers for endurance athlete status.

Gene	Full Name	Locus	Polymorphism	Endurance-Related Allele	References
					Studies with Positive Results	Studies with Negative or Controversial Results
ACE	Angiotensin I converting enzyme	17q23.3	Alu I/D (rs4343 A/G or rs4341 C/G)	I (A or C)	[14,15,16,128,129,130,131,132,133,134,135,136,137,138,139,140,141]	[133,142,143,144,145,146,147,148,149,150,151,152,153]
ACTN3	Actinin α 3	11q13.1	rs1815739 C/T	T	[17,154,155,156]	[152,157,158,159,160,161,162,163,164,165,166,167,168,169,170]
ADRB2	Adrenoceptor β 2	5q31-q32	rs1042713 G/A	A	[160,171,172]	[173,174]
ADRB2	Adrenoceptor β 2	5q31-q32	rs1042714 G/C	C	[153,175]	[173,174]
ADRB3	Adrenoceptor β 3	8p11.23	rs4994 A/G	G	[170,173]
AGTR2	Angiotensin II receptor type 2	Xq22-q23	rs11091046 A/C	C	[176]	[177]
AQP1	Aquaporin 1	7p14	rs1049305 C/G	C	[178,179,180]
AMPD1	Adenosine monophosphate deaminase 1	1p13	rs17602729 C/T	C	[19,153,181,182,183]	[184]
BDKRB2	Bradykinin receptor B2	14q32.1-q32.2	+9/−9 (exon 1)	–9	[185,186]	[153,187,188,189]
CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	6p21.2	rs236448 A/C	A	[43]
CKM	Creatine kinase M-type	19q13.32	rs8111989 A/G	A	[190,191,192]	[133,193]
COL5A1	Collagen type V α 1 chain	9q34.2-q34.3	rs12722 C/T	T	[194,195]
FTO	FTO α-Ketoglutarate Dependent Dioxygenase	16q12.2	rs9939609 T/A	T	[196,197]	[198]
GABPB1	GA binding protein transcription factor subunit β 1	15q21.2	rs12594956 A/C	A	[199,200]
			rs7181866 A/G	G	[199,201]	[200]
GALNTL6	Polypeptide N-acetylgalactosaminyltransferase 6	4q34.1	rs558129 T/C	C	[40]
GSTP1	Glutathione S-transferase Pi 1	11q13.2	rs1695 A/G	G	[202,203]
HFE	Homeostatic iron regulator	6p21.3	rs1799945 C/G	G	[153,204,205,206,207]
HIF1A	Hypoxia inducible factor 1 subunit α	14q23.2	rs11549465 C/T	C	[208,209]	[144,210]
MCT1	Monocarboxylate transporter 1	1p12	rs1049434 A/T	T	[60,211,212,213,214]	[215]
MtDNA loci	Mitochondrial DNA	MtDNA	MtDNA haplogroups	H	[161,216]
				Unfavourable: K	[161,216]
MYBPC3	Myosin Binding Protein C3	11p11.2	rs1052373 A/G	G	[42]
NFATC4	Nuclear factor of activated T cells 4	14q11.2	rs2229309 G/C	G	[144]
NFIA-AS2	NFIA antisense RNA 2	1p31.3	rs1572312 C/A	C	[39,46]
NOS3	Nitric oxide synthase 3	7q36	rs2070744 T/C	T	[153,217,218]	[219]
PPARA	Peroxisome proliferator activated receptor α	22q13.31	rs4253778 G/C	G	[20,220,221,222]
PPARGC1A	Peroxisome proliferative activated receptor, γ, coactivator 1 α	4p15.1	rs8192678 G/A	G	[18,20,170,223]	[216,224,225]
PPARGC1B	Peroxisome proliferative activated receptor, γ, coactivator 1 β	5q32	rs7732671 G/C	C	[144,226]
PPP3R1	Protein phosphatase 3 regulatory subunit B, α	2p15	Promoter 5I/5D	5I	[144,227]
PRDM1	PR/SET Domain 1	6q21	rs10499043 C/T	T	[228,229]
RBFOX1	RNA binding fox-1 homolog 1	16p13.3	rs7191721 G/A	G	[39]
SIRT1	Sirtuin 1	10q21.3	rs41299232 C/G	G	[45]
SPEG	Striated Muscle Enriched Protein Kinase	2q35	rs7564856 G/A	G	[230]
TFAM	Transcription factor A, mitochondrial	10q21	rs1937 G/C	C	[144,231]	[216]
TRPM2	Transient Receptor Potential Cation Channel Subfamily M Member 2	21q22.3	rs1785440 A/G	G	[45]
TSHR	Thyroid stimulating hormone receptor	14q31	rs7144481 T/C	C	[39]
UCP2	Uncoupling protein 2	11q13	rs660339 C/T	T	[130,144,232]
UCP3	Uncoupling Protein 3	11q13	rs1800849 C/T	T	[130,144]	[233]
VEGFA	Vascular endothelial growth factor A	6p12	rs2010963 G/C	C	[144,234,235]
VEGFR2	Vascular endothelial growth factor receptor 2	4q11-q12	rs1870377 T/A	A	[236,237]