Table 3. Genotype frequencies of 20 polymorphisms in all groups
Gene symbolPolymorphism (Function or location) rs numberGenotypeGenotype frequency, n (%)
ControlAll athleteRegional athleteNational athleteInternational athlete
Nuclear DNA
ACE I/D
(Intron)
rs4340
II269 (41.5)72 (41.1)7 (33.3)39 (41.5)26 (43.3)
ID301 (46.4)78 (44.6)11 (52.4)40 (42.5)27 (45.0)
DD79 (12.2)25 (14.3)3 (14.3)15 (16.0)7 (11.7)
ACTN3 C/T
(Arg577Ter)
rs1815739
CC132 (20.3)39 (22.3)3 (14.3)20 (21.3)16 (26.7)
CT346 (53.3)97 (55.4)12 (57.1)50 (53.2)35 (58.3)
TT171 (26.4)39 (22.3)6 (28.6)24 (25.5)9 (15.0)
ADRA2A T>C
(3′‐UTR)
rs553668
TT112 (17.3)34 (19.4)5 (23.8)16 (17.0)13 (21.7)
TC326 (50.2)80 (45.7)10 (47.6)41 (43.6)29 (48.3)
CC211 (32.5)61 (34.9)6 (28.6)37 (39.4)18 (30.0)
ADRB2 A>G
(Arg16Gly)
rs1042713
AA131 (20.2)36 (20.6)5 (23.8)20 (21.3)11 (18.3)
AG345 (53.2)95 (54.3)11 (52.4)50 (53.2)34 (56.7)
GG173 (26.7)44 (25.1)5 (23.8)24 (25.5)15 (25.0)
C>G
(Gln27Glu)
rs1042714
CC557 (85.8)151 (86.3)19 (90.5)78 (83.0)54 (90.0)
CG91 (14.0)24 (13.7)2 (9.5)16 (17.0)6 (10.0)
GG1 (0.2)0 (0.0)0 (0.0)0 (0.0)0 (0.0)
ADRB3 T>C
(Trp64Arg)
rs4994
TT425 (65.5)111 (63.4)16 (76.2)56 (59.6)39 (65.0)
TC206 (31.7)58 (33.1)5 (23.8)35 (37.2)18 (30.0)
CC18 (2.8)6 (3.4)0 (0.0)3 (3.2)3 (5.0)
APOE T>C
(Cys112Arg)
rs429358
TT511 (78.7)137 (78.3)18 (85.7)70 (74.5)49 (81.7)
TC128 (19.7)38 (21.7)3 (14.3)24 (25.5)11 (18.3)
CC10 (1.5)0 (0.0)0 (0.0)0 (0.0)0 (0.0)
C>T
(Arg158Cys)
rs7412
CC597 (92.0)161 (92.0)17 (81.0)89 (94.7)55 (91.7)
CT51 (7.9)14 (8.0)4 (19.1)5 (5.3)5 (8.3)
TT1 (0.2)0 (0.0)0 (0.0)0 (0.0)0 (0.0)
CKM A>G
(3′‐near gene)
rs8111989
AA465 (71.7)126 (72.0)15 (71.4)66 (70.2)45 (75.0)
AG166 (25.6)49 (28.0)6 (28.6)28 (29.8)15 (25.0)
GG18 (2.8)0 (0.0)0 (0.0)0 (0.0)0 (0.0)
COL5A1 C>T
(3′‐UTR)
rs12722
CC428 (66.0)132 (75.4)18 (85.7)73 (77.7)41 (68.3)
CT204 (31.4)39 (22.3)3 (14.3)20 (21.3)16 (26.7)
TT17 (2.6)4 (2.3)0 (0.0)1 (1.1)3 (5.0)
GABPB1 A>G
(Intron)
rs7181866
AA391 (60.2)102 (58.3)13 (61.9)54 (57.5)35 (58.3)
AG226 (34.8)60 (34.3)7 (33.3)33 (35.1)20 (33.3)
GG32 (4.9)13 (7.4)1 (4.8)7 (7.5)5 (8.3)
GNB3 C>T
(Synonymous)
rs5443
CC166 (25.6)53 (30.5)5 (23.8)31 (33.3)17 (28.3)
CT327 (50.4)85 (48.9)6 (28.6)42 (45.2)37 (61.7)
TT156 (24.0)36 (20.7)10 (47.6)20 (21.5)6 (10.0)
KDR A>T
(Gln472His)
rs1870377
AA229 (35.3)60 (34.3)7 (33.3)36 (38.3)17 (28.3)
AT303 (46.7)83 (47.4)12 (57.1)35 (37.2)36 (60.0)
TT117 (18.0)32 (18.3)2 (9.5)23 (24.5)7 (11.7)
NFATC4 G>C
(Gly160Ala)
rs2229309
GG447 (68.9)120 (68.6)10 (47.6)65 (69.2)45 (75.0)
GC181 (27.9)48 (27.4)11 (52.4)25 (26.6)12 (20.0)
CC21 (3.2)7 (4.0)0 (0.0)4 (4.3)3 (5.0)
PPARD C>T
(5′‐UTR)
rs2016520
CC29 (4.5)5 (2.9)0 (0.0)3 (3.2)2 (3.3)
CT203 (31.3)58 (33.1)7 (33.3)33 (35.1)18 (30.0)
TT417 (64.2)112 (64.0)14 (66.7)58 (61.7)40 (66.7)
PPARGC1A G>A
(Gly482Ser)
rs8192678
GG191 (29.4)45 (25.7)6 (28.6)27 (28.7)12 (20.0)
GA324 (49.9)87 (49.7)10 (47.6)46 (48.9)31 (51.7)
AA134 (20.6)43 (24.6)5 (23.8)21 (22.3)17 (28.3)
SLC16A1 T>A
(Asp490Glu)
rs1049434
TT61 (9.4)24 (13.7)2 (9.5)15 (16.0)7 (11.7)
TA300 (46.2)75 (42.9)10 (47.6)41 (43.6)24 (40)
AA288 (44.4)76 (43.4)9 (42.9)38 (40.4)29 (48.3)
TFAM G>C
(Ser12Thr)
rs1937
GG420 (64.7)115 (65.7)15 (71.4)56 (59.6)44 (73.3)
GC207 (31.9)53 (30.3)6 (28.6)32 (34.0)15 (25.0)
CC22 (3.4)7 (4.0)0 (0.0)6 (6.4)1 (1.7)
UCP2 C>T
(Ala55Val)
rs660339
CC165 (25.4)43 (24.6)9 (42.9)21 (22.3)13 (21.7)
CT346 (53.3)82 (46.9)7 (33.3)46 (48.9)29 (48.3)
TT138 (21.3)50 (28.6)5 (23.8)27 (28.7)18 (30.0)
UCP3 C>T
(5′‐UTR)
rs1800849
CC334 (51.5)81 (46.3)13 (61.9)42 (44.7)26 (43.3)
CT257 (39.6)82 (46.9)7 (33.3)45 (47.9)30 (50.0)
TT58 (8.9)12 (6.9)1 (4.8)7 (7.5)4 (6.7)
Mitochondrial DNA
MT‐ND2 A>G
(Thr122Ala)
m.4833
A594 (91.5)163 (93.1)20 (95.2)86 (91.5)57 (95.0)
G55 (8.5)12 (6.9)1 (4.8)8 (8.5)3 (5.0)
  • Gene names of the gene symbols are show in Table 1. All athletes comprise regional‐, national‐, and international‐level athletes.