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Table 2 Summary of findings from candidate gene studies

From: Genes to predict VO2max trainability: a systematic review

Gene Variant Chromosome Author & Date Race Age Sex Health concerns (+/−/0)* Genotype & VO2max training response P-value (x) Highest training intensity Sessions/week Duration per session (min) Training period Training modality
PPARGC1 Intron 7G/C 22 Onkelinx, 2011 935 Caucasian ~56 M&F Y (CAD) GG, CG, CC (0) 0.51 80% HRmax 2–3 90 3 months Ambulatory
He, 2008b 102 Chinese ~19 M N All variants (0) > 0.05 95–105% VT 3 Time to finish. 18 weeks 5000 m running
APOE E2: rs7412 (c.526C > T; p.Arg176Cys)
E3: WT
E4: rs429358 (c.388 T > C; p.Cys130Arg)
E3/E3: WT/WT
E2/E3: p.Arg176Cys/WT
E4/E3: p.Cys130Arg/WT
E2/E2: p.Arg176Cys/p.Arg176Cys
E2/E4: p.Arg176Cys/p.Cys130Arg
E4/E4: p.Cys130Arg/p.Cys130Arg
19 Yu, 2014 360 Chinese 18–40 M
F
M
F
M&F
N E2/E3 in M (+) n = 20
E2/E3 F (+) n = 25
E3/E4 M (+) n = 31
E3/E4 F (+) n = 29
E2/E2; E2/E4; E3/E3; E4/E4 in M&F (0)
0.04
0.03
0.02
0.02
> 0.05
60–85% VO2max ‘Progressive’ but details NA ‘Progressive’ but details NA 6 months Treadmill
Leon, 2004 265 Caucasian 17–65 M&F N All variants (0) > 0.05 75% VO2max 3 30–50 20 weeks Cycle ergo
Thompson, 2004 170 Unknown ~39 M&F N E3/E3 (−) n = 43
E2/E3 (0) n = 40
E3/E4 (0) n = 41
< 0.01 60–85% VO2max 4 Up to 50 min 6 months Treadmill
CKM 1170 & 985 + 185 19 Defoor, 2005 935 Caucasian ~56 M&F Y (CAD) AA; GG; A/G (0) > 0.05 80% HRmax 2–3 90 3 months Ambulatory
Rivera, 1999 240 Caucasian 17–65 M&F N CKM locus (n = 227) < 0.01 75% VO2max 3 30–50 20 weeks Cycle ergo
Rivera, 1997 495 Caucasian 17–65 M&F N Homozygotes 1170bpa allele (−) n = 12 < 0.05 75% VO2max 3 30–50 20 weeks Cycle ergo
Bouchard, 1989 295 Caucasian 18–30 M&F N All variants (0) > 0.05 1. 60–85% HRR
2: 80–85% HRR
1: 1–2
2: 3–5
1: Intervals
2: 30–45
1: 15
2: 15
1: Cycling
2: Cycling
ACE Insertion (I) or Deletion (D) 17 Alves, 2009 83 Brazilian ~26 M N All variants (0) > 0.05 50–80% VO2peak 2–3 60 min 17 weeks Running
Rankinen, 2000b 476 Caucasian
248 AA
17–65 M&F N DD Caucasian offspring (+)
n = 81
0.042 75% VO2max 3 30–50 20 weeks Ergo cycle
Defoor, 2006 935 Caucasian ~56 M&F Y (CAD) II (+) (frequency of 0.3 M and 0.36 F) Entire group: 0.047
No Ace inhibitors: 0.013
80% HRmax 2–3 90 3 months Ambulatory
Woods, 2002 59 Caucasian ~19 M N II; I/D; DD (0) >0.22 NA NA NA 11 weeks Squads, adventure training, running, circuits
Sonna, 2001 147 Caucasian, 37 AA, 26 other 19–24 M&F N II, DD (0) >0.05 NA 4–6 90 min 8 weeks Military training
CYBA; P22Phox A24G – 640A > G 16 Onkelinx, 2011 935 Caucasian ~56 M&F Y (CAD) AA, AG, GG (0)
CC, CT, TT (0)
0.78
0.94
80% HRmax 2–3 90 3 months Ambulatory
PLIN PLIN1 (6209 T > C) – rs2289487
15:g.90217096C > T
PLIN4 (11482G > A) – rs894160
15:g.90211823C > T
PLIN5 (13041A > G – rs2304795
15:g.90210263A > G
PLIN6 (149954A > T – rs1052700
15:g.90208310A > T
15 Jenkins, 2010 101 Caucasian NA M&F N Genotypes and haplotypes (0) p > 0.05 Up to 70% VO2max 3 20–40 min 24 weeks Multi-modal
AKT rs1130214 (4:g.105259734C > A) 14 McKenzie, 2011 109 Caucasian 50–75 M
F
Elevated BP, cholesterol, menopause All genotypes sig. Increased, but GT/TT men (+) n = 22 0.037 50–70%HRR 3 20–40 min 24 weeks Multi-modal
HIF1A T + 140C (rs11549465)
A-2500 T
Ch 14 Prior, 2003 101 Caucasian
22 AA
>60
<60
M&F N CT & TT in Caucasian over 60 (−) n = 37
All other ages, race and genotypes (0)
0.03
>0.05
>0.05
50–70% VO2max 3 20–40 min 24 weeks ‘Aerobic training’
Na + −K + −ATPase α2 Alpha2 exon 1
Alpha2 exon 21–22
13 Rankinen, 2000a 472 Caucasian 17–65 M&F N 3.3/3.3 (−) n = 5
10.5/10.5 offspring (+) n = 14
0.018
0.017
55–75% VO2max 3 30–50 20 weeks Cycle ergo
HBB -551C/T – no rs ID
11:g.5248801 T > C
+16, intron 2 - rs10768683
11:g.5247791C > G
+340 – no rs ID
11:g.5246488 T > A
11 He, 2006 102 Chinese ~19 M N CC, CT, TT (0)
CC, CG, GG (0)
AA, AT, TT (0)
>0.05 95–105% VT 3 Time to finish. 18 weeks 5000 m running
CNTF rs1800169 (11:g.58391501G > A) 11 Thomaes, 2011 935 Caucasian ~56 M&F N AA (+) n = 21 0.002 80% HR max 2–3 90 3 months Ambulatory
CAT -262C > T 11 Onkelinx, 2011 935 Caucasian ~56 M&F Y (CAD) TT (−) n = 342 0.02 80% HR max 2–3 90 3 months Ambulatory
GSTP1 rs1695 (11:g67352689A > G
c.313A > G p.Ile105Val)
11 Zabreska, 2014 66 Polish 19–24 F N GG & AG (+) n = 30 Absolute: 0.029
Relative: 0.025
50–75% HR max 3 60 3 months ‘Aerobic routine’
ADRB1 Pos. 145
Pos. 1165
10 Defoor, 2006 935 Caucasian ~56 M&F Y(CAD) Ser49Gly49, Ser49Ser49,   80% HR max 2–3 90 3 months Ambulatory
Gly49Gly49 (0)
GLy389Gly389,
0.18
Gly389Arg389, Arg389Arg389 (0) 0.75
TFAM rs1937 (10:g.60145342G > C
c.35G > C p.Ser12Thr)
rs2306604 (10:g.60148692A > G)
rs1049432 (10:g.60155120G > T)
10 He, 2007b 102 Chinese ~19 M N GG, CG, CC (0)
AA, AG, GG (0)
GG, GT, TT (0)
>0.05 95–105% VT 3 Time to finish. 18 weeks 5000 m running
NOS3 T-1495A – No rs ID
7:g.150689397A > T
A-949G – rs1800779
7:g.150689943G > A
-786 T > C– rs41322052
7:g150690106C > T
G298A – rs1799983
7:g.150696111 T > G
c.894 T > G (p.Asp298Glu))
7 Onkelinx, 2011 935 Caucasian ~56 M&F Y (CAD) TT, TA, AA (0)
AA, AG, GG (0)
TT, TC, CC (0)
TT, CT, C (0)
CC, CT, TT (0)
GG, GA, AA (0)
0.54
0.76
0.69
0.69
1.88
1.04
80% HRmax 2–3 90 3 months Ambulatory
-786 T > C– rs41322052
7:g150690106C > T
Intron 4 – rs61722009
VNTR (repeat)
7:g.150694276_150694302AGGGGTG
894G > T – rs1799983
7:g.150696111 T > G
c.894 T > G (p.Asp298Glu))
7 Silva, 2011 80 Portuguese 20–35 M N TT, CC, TC (0)
4b4b, 4ba4c, 4a4a (0)
GG, GT, TT (0)
*All genotypes sig. Increased. fitness, thus no difference between groups
0.001 Graded to VT HR 3 80 min 18 weeks Running
NRF-1 C&T - rs2402970
7:g.80647382G > T
A & G - rs10500120
7:g.129393341A > G
rs6949152
7:g129286436A > G
7 He, 2008a 102 Chinese ~19 M N CC, CT, TT (0)
AA, AG, GG (0)
AA, AG, GG (0)
0.38
0.110
0.094
95–105% VT 3 Time to finish. 18 weeks 5000 m running
AK1M common and rare variants 7 Bouchard, 1989 295 Caucasian 18–30 M&F N (0) > 0.05 1. 85% HRR
2: 85% HRR
1: 1–2
2: 3–5
1: Intervals
2: 30–45
1: 15
2: 15
1: Cycling
2: Cycling
PPARD Exon 4 + 15
Exon 7 + 65
Ch 6 Hautala, 2007 Caucasian AA 17–65 M&F N CC genotype in AA of Exon 4 + 15 (−) n = 19 0.005 75% VO2max 3 30–50 20 weeks Cycle ergo
VEGF 405
460
6 Onkelinx, 2011 935 Caucasian ~56 M&F Y (CAD) GG, GC, CC (0)
CC, CT, TT (0)
0.52
0.52
80% HR max 2–3 90 3 months Ambulatory
GR/NR3C1 rs6190 (5:g.142780337C > T
c.68G > A p.Arg23Lys)
5 Thomaes, 2011 935 Caucasian ~56 M&F Y (CAD) G/A (+) n = 55 <0.01 80% HR max 2–3 90 3 months Ambulatory
PPARα Gly482Ser 4 Onkelinx, 2011 935 Caucasian ~56 M&F Y (CAD) GG, G, SS (0) 0.59
0.8
80% HR max 2–3 90 3 months Ambulatory
SOD3 C760G 4 Onkelinx, 2011 935 Caucasian ~56 M&F Y (CAD) CC (0)
G carrier (0)
0.12
0.18
80% HR max 2–3 90 3 months Ambulatory
GPX 197P > L 3 Onkelinx, 2011 935 Caucasian ~56 M&F Y(CAD) Pro197Pro (0)
Leu-carrier (0)
0.18
0.78
80% HR max 2–3 90 3 months Ambulatory
NFE2L2 Rs125949
Rs8031031
Rs718186
2 He, 2007b 102 Chinese ~19 M N CC, CA, AA (0)
CT, TT, AA (0)
AG, GG (0)
> 0.05 95–105% VT 3 Time to finish. 18 weeks 5000 m running
AMPD1 AMPD1:c.133C (rs17602729) 1 Thomaes, 2011 935 Caucasian ~56 M&F N CC (+) n = 652 < 0.05 80% HR max 2–3 90 3 months Ambulatory
Rico-Sanz, 2003 329 Caucasian
90 AA
17–65 M&F N TT (−) in Caucasians (n = 6) < 0.006 75% VO2max 3 30–50 20 weeks Cycling
mtDNA MTND5
m.13470A > C or A > G
m.12406G > A
m.13365C > T
mtDNA SNP via restriction enzyme Murakami, 2001 21 Japanese 20.6 M N All variants (0) > 0.05 70% VO2max 3–4 60 min 8 weeks Ergo Cycle
mtDNA Within mitochondria Dionne, 1991 53 Quebec, Tempe 17–27 M N mtDNA subunit 5 N5 (−) n = 3 0.05 Quebec: 85% HRR
Tempe:77% VO2max
Quebec: 3
Tempe: 3–5
Quebec:45 min
Tempe:40 min
Quebec: 20 wks
Tempe: 12 wks
Ergo Cycle
ALAS2 ≤166 bp Mitochondria Xu, 2015 72 Chinese 18–22 M N ≤166 bp (+) n = 25 < 0.05 ‘High/Low training’ 3 30 min 4 weeks Ergo Cycle
  1. where possible, gene variants were annotated using the references sequence (GRCh37/hg19)
  2. CAD coronary artery disease, wks weeks, mths months, VO 2max maximal oxygen uptake/cardiorespiratory fitness, AT anaerobic threshold, HRR heart rate reserve, HRmax heart rate maximum, Pmax maximal aerobic power, Cauc Caucasian, AA African-American, M male, F female
  3. **(+) = high training response, (−) = low training response, (0) = neutral training response
  4. (x) = p-value has been adjusted for covariates except for article by Xu et al. (2015) where it wasn’t clear if p-value had been adjusted (ALAS2)