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. 2017 Nov 14;18(Suppl 8):831. doi: 10.1186/s12864-017-4192-6

Table 3.

Summary of hypothesis-free studies

Gene Variant Chromosome MapPosition Minor allele frequency (MAF) frequency Race Gender Age Training period Sessions/wk Session duration Sessions intensity (+/−/0)** genotype/expression and VO2max response to training P-value Author, Date
^*CAMTA1 intronic rs884736 1 6,937,692 0.41 1. 473 Caucasian
2. 259 African-American
M&F
M&F
17–65
17–65
20 wks 3×/wk 30–50 min 55–75% VO 2 max AA (−) 1. 1.49 × 10- 4
2. 0.03
3. 1.54 × 10 −4
Bouchard, 2011 (1&2)
Ghosh, 2013 (3)
+ID3 rs11574 (1:g.23559007 T > C c.313A > G p. Thr105Ala) 1 23,758,085 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 2.1 × 10−3 Timmons, 2010
*RGS18
5′ upstream of gene (non-coding)
rs10921078 (1:g.192059022G > A) 1 190,325,645 0.15 1. 483 Caucasian
2. 259 African-American
M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO 2 max GG (−) n = 567 1. 7.17 × 10~ 5
2. 0.032
Bouchard, 2011
^RYR2
intronic
rs7531957 (1:g.237789656 T > G) 1 235,856,279 0.08 473 Caucasian) M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO 2 max NA 1:6.42 × 10– 5
2:1.18 × 10 −4
Bouchard, 2011 (1)
Ghosh, 2013 (2)
#SCLC45A1 NA 1 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO 2 max NA #89.1 Ghosh, 2013
MAST2 rs2236560 1 46,268,021 NA 41 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
SYPL2 rs12049330 1 109,832,711 NA 41 Caucasian M Young adults 1.6 wks
2.12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
#ACVR1C NA 2 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #85.8 Ghosh, 2013
SLC4A5 rs828902 2 74,323,642 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA NA Timmons, 2010
KCNF1/NLGN1 rs2003298 (2:g.11086150 T > C) 2 11,003,601 0.42 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.21 × 10~4 Bouchard, 2011
* FLJ44450 rs4952535 (2:g.42131523G > A) 2 41,985,027 0.41 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max G (+) 1.01 × 10-4 Bouchard, 2011
++TTN rs10497520 (2:g.179644855 T > C c3601A > G p.Lys1201Glu) 2 175,353,100 0.50 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 2.5 × 10−3 Timmons, 2010
++NRP2
intronic
rs3770991 (2:g.206655739A > G) 2 206,363,984 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.4 × 10−3 Timmons, 2010
CREB1 rs2709356 2 208,120,337 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA NA Timmons, 2010
SCN3A rs7574918 2 165,647,425 NA 473 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
^HCG22 rs2517512 (6:g.31029685C > T) 6 NA 0.18 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 3.09 × 10−5 Ghosh, 2013
*KCNH8 (268 kb) rs4973706 (3:g.18921772 T > C) 3 18,896,776 0.24 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max A (+) 5.31 × 10~5 Bouchard, 2011
*ZIC4 (146 kb) intronic rs11715829 3 148,439,856 0.08 1. 473 Caucasian
2. 183 Caucasian
M&F
M&F
17–65
40–65
20 wks
6 mths
3×/wk.
3-4×/wk
30–50 min
4-8 kcal/kg/week
55–75% VO 2 max
+50%VO 2 max
AA (−) n = 4 8.68 × 10- 6
0.032
Bouchard, 2011
*NLGN1 (110 kb)
intronic
rs2030398 (3:g.173005973G > A) 3 174,488,667 0.20 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max A (+) 1.32 × 10~4 Bouchard, 2011
^ADCY NA 3 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #86.1 Ghosh, 2013
AMOTL2 rs13322269 3 135,569,834 NA 41 Caucasian M Young adults 1.6 wks
2.12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
CSN1S2B
intronic
rs2272040 (4:g71007047A > G) 4 71,041,636 0.13 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 5.05 × 10-5 Bouchard, 2011
*LOC100289626 (134 kb) rs2053896 (4:g137154796G > A) 4 137,374,246 0.10 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max A (+) 6.62 × 10~5 Bouchard, 2011
^*ACSL1 rs6552828 (4:g.185725416A > G) 4 185,962,410 0.37 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO 2 max AA (−) 1:1.31 × 10– 6
2:3.8 × 10 −6
Bouchard, 2011 (1)
Ghosh, 2013 (2)
^SLED1 rs6552828 4 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 3.8 × 10−6 Ghosh, 2013
^C4orf40 rs3775758 (4:g.71008910C > T) 4 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.09 × 10−4 Ghosh, 2013
^TEC rs13117386 (4:g.48252763G > C) 4 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 7.97 × 10−5 Ghosh, 2013
#NLN NA 5 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #88 Ghosh, 2013
FAABP6 rs7734683 5 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.44 × 10−4 Ghosh, 2013
TTC1 rs2176830 5 159,380,714 0.13 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.42 × 10~4 Bouchard, 2011
BTNL9 rs888949 5 180,425,011 NA 41 Caucasian M Young adults 1.6 wks
2.12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
RTN4IP1/QRSL1 rs898896 6 107,169,855 NA 41 Caucasian M Young adults 1.6 wks
2.12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
HCG22 rs2523849 6 31,133,030 0.17 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 7.53 × 10-5 Bouchard, 2011
HCG22 rs2523848 6 31,133,083 0.17 473 Caucasian M & F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 7.53 × 10~5 Bouchard, 2011
HCG22 rs2428514 6 31,135,495 0.15 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 8.22 × 10-5 Bouchard, 2011
HCG22 rs2517518 6 31,136,324 0.17 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 7.53 × 10~5 Bouchard, 2011
HCG22 rs2523840 6 31,138,404 0.17 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 7.53 × 10-5 Bouchard, 2011
HCG22 rs2517506 6 31,139,659 0.17 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 7.53 × 10~5 Bouchard, 2011
*PRDM1 (287 kb) rs10499043 6 106,353,830 0.13 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max A (+) 3.93 × 10-6 Bouchard, 2011
*ENPP3 (17 kb) rs10452621 6 132,127,094 0.12 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max A (+) 1.23 × 10~4 Bouchard, 2011
+SLC22A3 rs2457571 6 160,754,818 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max Downregulated in high responders 3.0 × 10−3 Timmons, 2010
^TMEM181 NA 6 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #84.5 Ghosh, 2013
^PARK2 NA 6 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #84.8 Ghosh, 2013
^SNX14 NA 6 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #86.7 Ghosh, 2013
^BTBD9 NA 6 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #86 Ghosh, 2013
^KCNQ5 NA 6 NA NA 473 Caucasian 1.M&F
2. M
1.17–65
2. young adults
1.20 wks
2. 6–12 wks
1. 3×/wk.
2. 3–4/wk
1. 30–50 min
2. 45 min vs progressive
1. 55–75% VO2max
2. 70% vs progressive
NA
NA
1:#85.9
2:NA
Ghosh, 2013 (1), Timmons, 2010 (2)
PPARD rs2076167 6 35,499,765 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA NA Timmons, 2010
HDAC9 rs3814991 7 18,601,428 0.11 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.46 × 10-4 Bouchard, 2011
WBSCR17 (35 kb) rs12538806 7 70,200,777 0.30 473 Caucasian M & F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.47 × 10~4 Bouchard, 2011
WBSCR17 (33 kb) rs13235325 7 70,202,943 0.30 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.47 × 10-4 Bouchard, 2011
++CPVL rs4257918 7 29,020,374 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max Upregulated in high responders 3.1 × 10−3 Timmons, 2010
^ITGB8 rs10265149 7 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 7.04 × 10−5 Timmons, 2010
LHFPL3 NA 7 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 84.34 Ghosh, 2013
PILRB rs13228694 7 99,778,243 NA 41 Caucasian Young adults 17–65 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
+DEPDC6 rs7386139 8 121,096,600 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.85×10−2 Timmons, 2010
#PINX1 N/A 8 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO 2 max NA 88.2 Ghosh, 2013
*GRIN3A (516 kb) rs1535628 9 104,056,570 0.09 473 Caucasian M & F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 6.81 × 10~6 Bouchard, 2011
GRIN3A (540 kb) rs959066 9 104,081,084 0.27 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.35 × 10-4 Bouchard, 2011
*C9orf27 (33 kb) rs12115454 9 117,759,871 0.11 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max G (+) 7.74 × 10~5 Bouchard, 2011
^TTLL11 rs7022103 9 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.08 × 10−4 Ghosh, 2013
KCNT1 N/A 9 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #86.5 Ghosh, 2013
KLF4 rs4631527 9 109,309,857 NA 41 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
TET1 rs12413410 10 70,055,236 NA 41 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
PRKG1 N/A 10 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #87.3 Ghosh, 2013
^+SVIL rs6481619 10 30,022,960 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.0 × 10−3 Timmons, 2010
+BTAF1 rs2792022 10 93.730,409 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.2 × 10−2 Timmons, 2010
CASC2 rs1413184 10 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.65 × 10−4 Ghosh, 2013
KIF5B rs806819 10 32,403,990 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA NA Timmons, 2010
+H19 rs22551375 11 1,976,072 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max Upregulated in high responders 4.0 × 10−4 Timmons, 2010
ACTN3 rs1815739 10 66,084,671 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA NA Timmons, 2010
BTAF1 rs2792022 10 93,730,409 NA 41 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
*LOC100130460 rs2198009 11 10,360,153 0.50 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max A (+) 2.28 × 10-5 Bouchard, 2011
*DBX1 (64 kb) rs10500872 11 20,202,299 0.15 473 Caucasian M & F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max A (+) 6.49 × 10~6 Bouchard, 2011
^*CD44 rs353625 11 35,125,122 0.32 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO 2 max NA 1:1.12 × 10– 4
2:1.64 × 10 −4
Bouchard, 2011 (1)
Ghosh, 2013 (2)
CXCR5 (36 kb) rs4938561 11 118,223,695 0.23 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 9.29 × 10~5 Bouchard, 2011
* CXCR5 (24 kb/) BLR1 rs7933007 11 118,235,879 0.23 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 7.35 × 10-5 Bouchard, 2011
^CD6 rs175098 11 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.11 × 10−4 Ghosh, 2013
^SHANK2 rs10751308 11 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO 2 max NA 8.11 × 10 −5 Ghosh, 2013
#GRIK4 N/A 11 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO 2 max NA 88.32 Ghosh, 2013
H19 rs2251375 11 1,976,076 NA 41 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
FAM19A2 rs2168452 12 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.34 × 10−4 Ghosh, 2013
^C12orf36 (14 kb) rs12580476 12 13,435,330 0.14 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.08 × 10~4
2. 1.45 × 10−4
Bouchard, 2011 (1)
Ghosh, 2013 (2)
^NALCN N/A 13 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO 2 max NA #85 Ghosh, 2013
+MIPEP rs7324557 13 23,194,862 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 5.1 × 10−3 Timmons, 2010
^EEF1DP3 rs2773968 13 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 3.67 × 10−6 Ghosh, 2013
^CLYBL N/A 13 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #85.4 Ghosh, 2013
*TTC6 rs12896790 14 37,343,673 0.09 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 3.59 × 10-5 Bouchard, 2011
METTL3 rs1263809 14 21,058,740 NA 41 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
TTC6 rs8018889 14 37,353,342 0.09 473 Caucasian M & F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 5.25 × 10~5 Bouchard, 2011
*DAAM1 rs1956197 (14:g.59477414C > T) 14 58,547,167 0.16 1. 473 Caucasian
2. 464 Caucasian
1.M
2. F
17–65
Post menopause
20 wks
6 mths
3×/wk.
120-170 min/wk
30–50 min
120–170 min/wk
55–75% VO 2 max
+50%VO 2 max
AA (−) n = 84 1.43 × 10- 5 Bouchard, 2011
*NDN (75 kb)
Downstream of NDN
rs824205 15 21,559,164 0.15 1. 473 Caucasian
2. 464 Caucasian
1.M
2.F
17–65
Post menopause
20 wks
9 mths
3×/wk.
120-170 min/wk
30–50 min
120-170 m in/wk
55–75% VO 2 max
40–85%VO 2 max
GG (−) n = 521 3.45 × 10~ 5
0.05
Bouchard, 2011
+DIS3L rs1546570 15 64,382,829 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 2.3 × 10−2 Timmons, 2010
UNKL rs3751894 16 1,426,876 NA 473 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
IL32 rs13335 16 3,052,198 NA 473 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
#RPTOR N/A 17 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO 2 max NA #89 Ghosh, 2013
#VPS53 N/A 17 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #84 Ghosh, 2013
ACE DI 17 58,919,622 NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA NA Timmons, 2010
SMTNL2 rs7217556 17 4,425,585 NA 41 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
ZSWIM7 R21 17 15,825,286 NA 41 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
ENOSF1 rs3786355 18 671,962 NA 41 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
EMR4 rs7256163 19 6,909,134 0.31 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.13 × 10-4 Bouchard, 2011
IER2 rs892020 19 13,8185 NA 41 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
DNAJB1 rs4926222 19 14,488,050 NA 41 Caucasian M Young adults 1.6 wks
2. 12 wks
1. 4×/wk.
2. 3×/wk
1. 45 min
2. Progressive
1. 70% VO2max
2. Progressive
NA NA Timmons, 2010
g.63226200G > A rs6090314 20 61,327,997 0.16 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max A (+) 1:6.48 × 10~5
2:6.24 × 10−5
Bouchard, 2011 (1)
Ghosh, 2013 (2)
^YTHDF1 rs6122403 20 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 6.24 × 10−5 Ghosh, 2013
^MACROD2 N/A 20 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO 2 max NA #86.6 Ghosh, 2013
^HLS21 N/A 21 NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA #84.7 Ghosh, 2013
*MN1 (14 kb) rs738353 22 26,460,072 0.35 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max A (+) 1.23 × 10–4 Bouchard, 2011
LOC731789 rs11015207 NA NA NA 473 Caucasian M&F 17–65 20 wks 3×/wk 30–50 min 55–75% VO2max NA 1.61 × 10−4 Ghosh, 2013

There were no other possible mediators (such as medications, health concerns) or other significant findings noted in the above three studies. Where possible, gene variants were annotated using the references sequence (GRCh37/hg19)

*Out of the 39 SNPs identified via GWAS, 21 (*) explained 49% of the VO2 max trainability variance (after regression analysis). The 15 most significant were then examined using data from the following studies: HERITAGE African-Americans, DREW study, STRRIDE study. The variants replicated are in italics

+11 SNPs from a regression analysis explained ~23% of the estimated VO2 max variance. 90% RNA expression remained unchanged by exercise training. (++) were found in study by Bouchard (2011) but weren’t included in the regression analysis because they weren’t considered significant at the 0.00015 level

^Top 20 GWAS associated genes based on second-best SNP-P values

#Candidate genes identified through CANDID software based on literature search; GWAS association data; sequence conversion & gene expression. This equates to a ‘final score’ rather than p-value. Bolded text indicates moderate-strong related biological mechanisms that influence VO2 max trainability

**(+) = significantly higher training response

(0) = no significant difference in training response between genotypes

(−) = significantly lower training response