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/ATSHR rs7144481 T/CRBFOX1 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 ACEI/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 HIF1APro582Ser; 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 R577XACE 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 COL5A1BstUI 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 rs1815739AMPD1 rs17602729BDKRB2 rs1799722ADRB2 rs1042713PPARGC1α rs8192678PPARα rs4253778; rs6902123rs1053049; rs2267668APOE 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.