Table 1.

Genetic polymorphisms associated with sport performance

Gene	Full name	Associated phenotypes	Polymorphism ID	References
ACE	Angiotensin I converting enzyme	I allele, endurance performance; D allele, power performance	rs4646994 (Alu I/D)	28,29,31,146
ACTN3	α-actinin-3	577Ter (T) allele, endurance performance; Arg577 (C) allele, power performance	rs1815739 C>T	28,39,91,147
ADRB2	β-2adrenoreceptor	16Arg (A) and Gln27 (C) alleles, endurance performance	rs1042713 G>A; rs1042714 C>G	92,93,94,146
BDKRB2	Bradykinin receptor B2	T allele, endurance performance	rs1799722 C>T	93,146
COL5A1	Collagen, type V, α1	CC genotype, protection from exercise-associated muscle cramps during an ultra-marathon; T allele, endurance performance	rs12722 C>T	95,96,146,148
CRP	C-reactive protein, pentraxin-related	A allele, endurance performance	rs1205 A>G	97,98,146
GABPB1	GA binding protein transcription factor, β subunit 1 (nuclear respiratory factor 2	G allele, endurance performance	rs7181866 A>G	99,146
PPARA	Peroxisome proliferator-activated receptor α	G allele, endurance performance; C allele, power performance	rs4253778 G>C	100,101,146
PPARGC1A	Peroxisome proliferator-activated receptor γ coactivator 1 α	G allele, endurance performance	rs8192678 G>A	102,103,146
VEGFA	Vascular endothelial growth factor A	C allele, endurance performance	rs2010963 G>C	104,105,146
ADRA2A	α-2A-adrenergic receptor	Central role in the regulation of systemic sympathetic activity and hence cardiovascular responses such as heart rate and blood pressure	Dra I identifies a restriction fragment length polymorphism in the 3_-untranslated region (6.7-/6.3-kb polymorphism	92
AMPD1	Adenosine monophosphate deaminase 1	GG homozygotes, elite power athlete status, quicker acceleration and sprint times	rs17602729 G>A	77,149
EPAS1	Endothelial PAS domain protein 1	AA genotype in rs1867785, underrepresented in sprint/power athletes; TT genotype in rs11689011, underrepresented in sprint/power athletes	rs1867785; rs11689011	124
NFATC4	Nuclear factor of activated T cell calcineurin-dependent 4	G allele, elite endurance athlete status	rs2229309 G>C	125
NOS3	Nitric oxide synthase 3	GG genotype, slower than the other genotypes	rs1799983 T>A>G	92,126
AGT	Angiotensinogen	235Thr (C) allele, power performance	rs699 T>C	106,107,146
IL6	Interleukin-6	G allele, power performance	rs1800795 C>G	108,109,146
TRHR	Thyrotropin- releasing hormone receptor	C allele, muscle mass	rs16892496 A>C	110,146
VDR	Vitamin D receptor	A allele, power performance	rs1544410 A>G	111,112,146
PPARGC1B	Peroxisome proliferator-activated receptor γ coactivator 1 α	C allele, power athlete status	rs10060424 T>A,C	114
PPARG	Peroxisome proliferator-activated receptor γ	G allele, short-term and very intense exertion with anaerobic energy production	rs1801282 C>G	115
HIF1A	Hypoxia-inducible factor 1α	T allele, higher frequency in weightlifters and power-orientated athletes	rs11549465 C>T	115,117,118
PTPRK	Protein tyrosine phosphatase receptor type K	C allele, sprint test performance	rs55743914 C>T	120
TERT	Telomerase reverse transcriptase	G allele, sprinters	rs33954691 G>A	120
RDH13	Retinol dehydrogenase 13	G allele, increased proportion of fast-twitch muscle fibres	rs4806637 A>G	120
CBLN2	Cerebellin 2 precursor	G allele, sprinters	rs8093502 C>T	120
CPNE5	Copine V	G allele, sprinters	rs3213537 C>T	120
CNTN4	contactin 4	A allele, overrepresented in football players	rs62247016 A>T	120
LINC00305, LINC01924	Long intergenic non-protein coding RNA 305, 1924	Functional role in development of atherosclerosis by inducing production of inflammatory cytokines in monocytes, by regulating apoptosis via miR-136	rs2850711 A>T	150
AGTR1	Angiotensin II receptor type 1	C allele, essential hypertension. A allele, downregulated by the miR-155	rs5186 A>C	151
MIR499A	MicroRNA 499a	GG genotype, myocardial infarction and ischemic stroke. The rs3746444 polymorphism disturbs regulation of blood pressure and anti-apoptotic effect in cardiomyocytes	rs3746444 A>G	152
MIR4513	MicroRNA 4513	Blood pressure, total lipids, total cholesterol, low-density lipoprotein cholesterol, blood glucose. TT genotype, coronary artery disease. T allele, decrease in Mir-4513	rs2168518 C>T	152
MIR149	MicroRNA 149	Coronary artery disease	rs2292832 T>C	152
MIR27A	MicroRNA 27a	C allele, increases in the expression of the miR with negative effect on adipogenesis. CC genotype, protective role against T2DM. G allele, increased risk of early cardiovascular autonomic neuropathy	rs895819 T>A,C,G	152
CREB1	CAMP responsive element binding protein 1	A allele, smaller reduction in heart rate during a submaximal exercise test following training; greater exercise-induced temperature increase	rs2253206 A>G,T	148
CPT2	Carnitine palmitoyltransferase 2	Minor alleles, CPT2 deficiency	rs1799821 G>A; rs1799822 A>G	149
PYGM	Muscle associated glycogen phosphorylase	Truncating variant, exercise intolerance, cramps and contractures during exercise and stressful situations	rs116987552 G>A	149
CNTF	Ciliary neurotrophic factor	GG genotype, athlete phenotype	rs1800169 G>A	147
ACVR1B	Activin A receptor type 1B	Dynamic knee flexion and extension, isometric strength	rs11612312 T>C; rs2854464 A>C,G	153
NGF	Nerve growth factor	CC genotype, more anxious females; TT genotype, more anxious males, less anxious females	rs6330 C>T	154
BDNF	Brain-derived neurotrophic factor	CC genotype, quicker sprinters than A allele carriers	rs6265 G>A	154
NGFR	Nerve growth factor receptor	Vagal autonomic dysregulation	rs2072446 C>T	154
MSTN	Myostatin	Peak power during muscle contractions	rs1805086 A>G	154,155
SCN9A	Sodium voltage-gated channel alpha subunit 9	AA genotype, increased perception of pain	rs1805086 A>G	154
COMT	Catechol-O-methyltransferase	A allele, higher dopamine levels; lower pain threshold; enhanced vulnerability to stress. G allele, lower dopamine levels; higher pain threshold; better stress resiliency	s4680 G>A	154