Table 1.
Characteristics of studies included (bold indicates gene of interest).
| References | Participants | Study design | Genes and SNPs measured | Outcome(s) |
|---|---|---|---|---|
| Ahmetov et al., 2015 | Russian endurance athletes (n= 219; 2 marathon runners), power athletes (n=230), Russian controls (n=192) and European controls (n=1367) | GWAS |
NFIA-AS2 rs1572312 C/A TSHR rs7144481 T/C RBFOX1 rs7191721 G/A |
C alleles of NFIA-AS2 rs1572312 and TSHR rs7144481 associated with elite endurance athlete status including marathon runners. |
| Amir et al., 2007 | Israeli elite marathon runners (n=79), elite power athletes (n=42) and sedentary controls (n=247) | Case-control | ACE I/D rs4646994 | D allele associated with elite marathon athlete status. |
| Ash et al., 2011 | Ethiopian elite endurance runners (n=76), demographically matched controls (n=410), controls from general Ethiopian population (n=317), power athletes (n=38) | Case-control |
ACE I/D rs4646994; A22982G rs4363 |
No association with elite Ethiopian runners. |
| Döring et al., 2010 | Caucasian male elite endurance athletes (n=316; 39 runners) and Caucasian male sedentary controls (n=304) | Case-control |
HIF1A Pro582Ser; rs11549465; C/T rs17099207 G/A; rs1951795 C/A; rs11158358 C/G; rs2301113 A/C; rs11549467 G/A |
Pro582 C allele of rs11549465 and A allele of rs17099207 associated with elite endurance runners. |
| He et al., 2015 | Chinese elite endurance runners (n=235) and Chinese controls (n=504) | Case-control | PPARAGCIα (41 SNPs) PPARAGCIβ (43 SNPs) PPRCI1 (4 SNPs); TFAM (3 SNPSs); TFB1M (7 SNPs); TFB2M (3 SNPs); NRF1 (14 SNPs); GABPA (2 SNPs); GABPA (5 SNPs); ERRα (4 SNPs); SIRT1 (7 SNPs) |
No significant association between proliferator-activated receptor γ (PGC)-related genes and elite endurance running status after adjusting for multiple comparisons. |
| Martinez et al., 2009 | Hispanic marathon runners (n=784; 393 3rd percentile and 388 lowest 3rd percentile finishers) | Case-control | AQP1 rs1049305 C/G | C allele associated with elite performance in Hispanic marathon runners. |
| Myerson et al., 1999 | Elite runners (n=91; 79 Caucasian) and British controls (n=1906) | Case-control | ACE I/D rs1049305 C/G | I allele positively associated with elite endurance running performance. |
| Papadimitriou et al., 2018 | 1,5k, 3k, 5k, and 42k m running times of 698 male and female Caucasian endurance athletes | Cohort | ACTN3 R577X ACE I/D |
No association between ACTN3 or ACE I/D genotype and running performance at any distance. |
| Posthumus et al., 2011 | Caucasian male triathlon (incl. 42.2km run) finishers (n=313) | Cohort |
COL5A1 BstUI RFLP rs12722 T/C |
T allele associated with faster time to complete running component (42.2km) of triathlon. |
| Sawczuk et al., 2013 | Polish elite endurance athletes (n=123; 12 marathon runners) and sedentary controls (n=228) | Case-control | ADRA2A rs553668 C/T | No association with elite endurance athlete status including marathon runners. |
| Stebbings et al., 2018 | Male marathon runners (n=141) and recreationally active men (n=137) | Cohort | TTN rs10497520 | TTN gene is associated with shorter skeletal muscle fascicle length and conveys an advantage for marathon running performance in trained men. |
| Tobina et al., 2010 | Japanese male elite endurance runners (n=37) and non-athlete controls (n=335) | Case-control | ACE I/D rs4646994 | Frequency of the ACE I/D genotype was lower in elite endurance runners than controls. The D allele was associated with faster marathon -running speed. |
| Tsianos et al., 2010 | Greek Mount Olympus marathon runners (n=438) | Cohort |
ACTN3 rs1815739 AMPD1 rs17602729 BDKRB2 rs1799722 ADRB2 rs1042713 PPARGC1α rs8192678 PPARα rs4253778; rs6902123 rs1053049; rs2267668 APOE rs7412; rs429358 |
BDKRB2 rs1799722, ADRB2 rs1042713 and AMPD1 rs17602729 associated with endurance running performance. |
| Wolfarth et al., 2008 | Caucasian male elite endurance athletes (n=316; 39 runners) and sedentary male controls (n=299) | Case-control |
NOS3 Glu298Asp rsl799983 G/T (CA)n repeats; 27-bp repeats 4B/4A |
164 bp allele of (CA)n repeats associated with elite endurance runners. |
NFIA-AS2, nuclear factor I A- antisense RNA 2; TSHR, thyrotropin receptor precursor; RBFOX1, RNA binding protein fox-1 homolog; ACE, angiotensin-converting enzyme; HIF1A, hypoxia-inducible factor 1-alpha, PPARGC1α, peroxisome proliferator-activated receptor gamma coactivator 1-alpha; PPARGC1β, peroxisome proliferator-activated receptor gamma coactivator 1-beta; PPRC1, peroxisome proliferator-activated receptor gamma coactivator-related protein 1; TFAM, mitochondrial transcription factor A; TFB1M, mitochondrial transcription factor B1; TFB2M, mitochondrial transcription factor B2; NRF1, nuclear respiratory factor 1; GABPA, GA-binding protein transcription factor alpha; GABPB1, GA-binding protein transcription factor beta 1; ERRα, estrogen-related receptor alpha; SIRT1, sirtuin-1; AQP1, aquaporin 1; COL5A1, collagen type V alpha-1; ADRA2A, adrenergic receptor alpha 2A; ACTN3, alpha-actinin-3; AMPD1, adenosine monophosphate deaminase 1; BDKRB2, bradykinin receptor B2; ADRB2, adrenergic receptor beta 2; PPARα, peroxisome proliferator activated receptor alpha; PPARD, peroxisome proliferator activated receptor delta; APOE, apolipoprotein E; NOS3, nitric oxide synthase 3.