Table 2.
Genetic markers for power athlete status.
| Gene | Full Name | Locus | Polymorphism | Power-Related Allele | References | |
|---|---|---|---|---|---|---|
| Studies with Positive Results | Studies with Negative or Controversial Results | |||||
| ACE | Angiotensin I converting enzyme | 17q23.3 | Alu I/D (rs4343 A/G or rs4341 C/G) | D (G) | [16,128,145,169,247,248,249,250] | [150,251,252,253,254] |
| ACVR1B | Activin A type IB receptor | 12q13.13 | rs2854464 A/G | A | [255,256] | [256,257] |
| ACTN3 | Actinin α 3 | 11q13.1 | rs1815739 C/T | C | [17,161,162,168,170,250,258,259,260,261,262,263,264] | [159,165,254,265,266] |
| ADAM15 | ADAM Metallopeptidase Domain 15 | 1q21.3 | rs11264302 G/A | G | [49] | |
| ADRB2 | Adrenoceptor β 2 | 5q31-q32 | rs1042713 G/A | G | [41,174] | |
| rs1042714 C/G | G | [41,174] | ||||
| AGRN | Agrin | 1p36.33 | rs4074992 C/T | C | [45] | |
| AGT | Angiotensinogen | 1q42.2 | rs699 T/C | C | [41,267,268] | |
| AGTR2 | Angiotensin II receptor type 2 | Xq22-q23 | rs11091046 A/C | A | [176,177] | [55] |
| AKAP6 | A-Kinase Anchoring Protein 6 | 14q12 | rs12883788 C/T | C | [49] | |
| AMPD1 | Adenosine monophosphate deaminase 1 | 1p13 | rs17602729 C/T | C | [184,269,270] | |
| AUTS2 | Activator of Transcription and Developmental Regulator AUTS2 | 7q11.22 | rs10452738 A/G | A | [49] | |
| BDNF | Brain derived neurotrophic factor | 11p14.1 | rs10501089 G/A | A | [271] | |
| CCT3 | Chaperonin Containing TCP1 Subunit 3 | 1q22 | rs11548200 T/C | T | [49] | |
| CDKN1A | Cyclin Dependent Kinase Inhibitor 1A | 6p21.2 | rs236448 A/C | C | [43] | |
| CKM | Creatine kinase, M-type | 19q13.32 | rs8111989 A/G | G | [65,272,273] | [274] |
| CNTFR | Ciliary neurotrophic factor receptor | 9p13.3 | rs41274853 C/T | T | [275] | |
| CPNE5 | Copine V | 6p21.2 | rs3213537 G/A | G | [41,48] | |
| CRTAC1 | Cartilage Acidic Protein 1 | 10q24.2 | rs2439823 A/G | A | [49] | |
| CRTC1 | CREB Regulated Transcription Coactivator 1 | 19p13.11 | rs11881338 T/A | A | [49] | |
| E2F3 | E2F Transcription Factor 3 | 6p22.3 | rs4134943 C/T | T | [49] | |
| FHL2 | Four and a Half LIM Domains 2 | 2q12.2 | rs55680124 C/T | C | [49] | |
| GALNTL6 | Polypeptide N-acetylgalactosaminyltransferase like 6 | 4q34.1 | rs558129 C/T | T | [47,276] | |
| GDF5 | Growth Differentiation Factor 5 | 20q11.22 | rs143384 A/G | G | [49] | |
| HIF1A | Hypoxia inducible factor 1 α subunit | 14q21-q24 | rs11549465 C/T | T | [277,278,279] | |
| HSD17B14 | Hydroxysteroid 17-β dehydrogenase 14 | 19q13.33 | rs7247312 A/G | G | [41] | |
| IGF1 | Insulin like growth factor 1 | 12q23.2 | rs35767 C/T | T | [280,281] | |
| IGF2 | Insulin like growth factor 2 | 11p15.5 | rs680 A/G | G | [41,281,282] | |
| IGSF3 | Immunoglobulin Superfamily Member 3 | 1p13.1 | rs699785 G/A | A | [49] | |
| IL6 | Interleukin 6 | 7p21 | rs1800795 C/G | G | [41,283,284] | |
| ILRUN | Inflammation and Lipid Regulator with UBA-Like and NBR1-Like Domains | 6p21.31 | rs205262 A/G | A | [49] | |
| MTHFR | Methylenetetrahydrofolate reductase | 1p36.3 | rs1801131 A/C | C | [285,286] | |
| NOS3 | Nitric oxide synthase 3 | 7q36 | rs2070744 T/C | T | [219,279,287] | |
| NRXN3 | Neurexin 3 | 14q24.3-q31.1 | rs8011870 G/A | G | [49] | |
| NUP210 | Nucleoporin 210 | 3p25.1 | rs2280084 C/A | C | [45] | |
| PIEZO1 | Piezo Type Mechanosensitive Ion Channel Component 1 | 16q24.3 | rs572934641 (TCC/-) E756del | D | [288] | |
| PPARA | Peroxisome proliferator activated receptor α | 22q13.31 | rs4253778 G/C | C | [159,220,289] | |
| PPARG | Peroxisome proliferator activated receptor γ | 3p25.2 | rs1801282 C/G | G | [279,290,291] | [292] |
| rs2920503 C/T | T | [49] | ||||
| SLC39A8 | Solute Carrier Family 39 Member 8 | 4q24 | rs13107325 C/T | C | [49] | |
| SOD2 | Superoxide dismutase 2 | 6q25.3 | rs4880 C/T | C | [293] | |
| TRHR | Thyrotropin releasing hormone receptor | 8q23.1 | rs7832552 C/T | T | [65,294,295] | |
| UBR5 | Ubiquitin Protein Ligase E3 Component N-Recognin 5 | 8q22.3 | rs10505025 G/A | A | [296] | |
| rs4734621 G/A | A | [296] | ||||
| ZNF568 | Zinc Finger Protein 568 | 19q13.12 | rs1667369 A/C | A | [49] | |