The Sports Gene: Inside the Science of Extraordinary Athletic Performance (38 page)

Maron, Barry J., Martin S. Maron, and Chrisopher Semsarian (2012). “Genetics of Hypertrophic Cardiomyopathy After 20 Years.”
Journal of the American College of Cardiology
, 60(8):705–15.

248
The weight of Kevin Richards’s heart comes from his autopsy documents, obtained with written permission of his parents, Gwendolyn and Rupert Richards.

248
An increasing number of states allow nonphysicians to conduct preparticipation exams:

Glover, David W., Drew W. Glover, and Barry J. Maron (2007). “Evolution in the Process of Screening United States High School Student-Athletes for Cardiovascular Disease.”
American Journal of Cardiology
, 100:1709–12.

251
Alan Milstein’s quote originally appeared here:

Litke, Jim. “Curry’s DNA Fight with Bulls ‘Bigger Than Sports World.’”
Associated Press, September 29, 2005.

254
ApoE4 carriers get Alzheimer’s more often and younger:

Corder, E. H., et. al. (1993). “Gene Dose of Apolipoprotein E type 4 Allele and the Risk of Alzheimer’s Disease in Late Onset Families.”
Science
, 261(5123):921–23.

254
ApoE4 influences severity of brain trauma injury:

Jordan, Barry D. (2007). “Genetic Influences on Outcome Following Traumatic Brain Injury.”
Neurochemical Research
, 32:905–15.

254
Boxers with ApoE4 have worse outcomes:

Jordan, Barry D. (1997). “Apolipoprotein E epsilon4 Associated with Chronic Traumatic Brain Injury.”
Journal of the American Medical Association
, 278(2):136–40.

254
Age, getting hit in the head, and ApoE4 negatively influence brain function:

Kutner, K. C., et al. (2000). “Lower Cognitive Performance of Older Football Players Possessing Apolipoprotein E epsilon4.”
Neurosurgery
, 47(3):651–57.

255
BU’s Center for the Study of Traumatic Encephalopathy has background on CTE, and John Grimsley’s brain:

http://www.bumc.bu.edu/supportingbusm/research/brain/cte/.

255
Two percent of people have two copies of the ApoE4 gene variant:

Izaks, Gerbrand J., et al. (2011). “The Association of ApoE Genotype with Cognitive Function in Persons Aged 35 Years or Older.”
PLoS ONE
, 6(11):e27415.

255
BU researchers have been compiling cases of CTE in athletes:

McKee, Ann C., et al. (2009). “Chronic Traumatic Encephalopathy in Athletes: Progressive Tauopathy Following Repetitive Head Injury.”
Journal of Neuropathology & Experimental Neurology
, 68(7):709–35.

257
Sam Gandy, director of Mt. Sinai Hospital’s Center for Cognitive Health, equated ApoE4 risk to playing in the NFL:

http://www.alzforum.org/new/detail.asp?id=3264.

257
When people learn what version of ApoE they have:

Green, Robert C., et al. (2009). “Disclosure of ApoE Genotype for Risk of Alzheimer’s Disease.”
New England Journal of Medicine
, 361:245–54.

257
Technical background on research into genes that may affect injury susceptibility:

Collins, Malcolm, and Stuart M. Raleigh. “Genetic Risk Factors for Musculoskeletal Soft Tissue Injuries.” In: Malcolm Collins, ed.
Genetics and Sports
. Karger, 2009, 54:136–49.

258
COL5A1 may also influence flexibility and running performance via Achilles tendon stiffness:

Posthumus, Michael, Martin P. Schwellnus, and Malcolm Collins (2011). “The COL5A1 Gene: A Novel Marker of Endurance Running Performance.”
Medicine & Science in Sports & Exercise
, 43(4):584–89.

258
A number of NFL players have pursued “injury gene” testing:

Assael, Shaun. “Cheating Is So 1999.”
ESPN
The Magazine
, October 8, 2009, pp. 88–97.

260
An excellent resource—but very technical—for a broad look at the pain genetics landscape:

Mogil, Jeffrey S.
The Genetics of Pain
. IASP Press, 2004.

260
The “redhead” mutation reduces pain sensitivity:

Mogil, J., et al. (2005). “Melanocortin-1 Receptor Gene Variants Affect Pain and μ-Opioid Analgesia in Mice and Humans.”
Journal of Medical Genetics
, 42(7):583–87.

261
The quote from British researchers regarding a Pakistani family’s inability to feel pain appears here:

Cox, James J., et al. (2006). “An SCN9A Channelopathy Causes Congenital Inability to Experience Pain.”
Nature
, 444(7121):894–98.

261
Pain perception is altered by common variation in SCN9A:

Reimann, Frank, et al. (2010). “Pain Perception Is Altered by a Nucleotide Polymorphism in SCN9A.”
Proceedings of the National Academy of Sciences
, 107(11):5148–53.

261
Background on the COMT gene:

Goldman, David. “Chapter 13: Warriors and Worriers.”
Our Genes, Our Choices: How Genotype and Gene Interactions Affect Behavior
. Academic Press, 2012.

Stein, Dan J., et al. (2006). “Warriors Versus Worriers: The Role of COMT Gene Variants.”
Pearls in Clinical Neuroscience
, 11(10):745–48.

263
Athletes are less sensitive to pain on game day:

Sternberg, W. F., et al. (1998). “Competition Alters the Perception of Noxious Stimuli in Male and Female Athletes.”
Pain
, 76(1–2):231–38.

16

The Gold Medal Mutation

274
The first documentation of the inheritance pattern of high red blood cell levels in the Mäntyranta family:

Juvonen, Eeva, et al. (1991). “Autosomal Dominant Erythrocytosis Caused by Increased Sensitivity to Erythropoietin.”
Blood
, 78(11):3066–69.

276
First documentation of the Mäntyranta family EPOR mutation:

de la Chapelle, Albert, et al. (1993). “Familial Erythrocytosis Genetically Linked to Erythropoietin Receptor Gene.”
Lancet
, 341:82–84.

277
Detailed analysis of the Mäntyranta family EPOR mutation:

de la Chapelle, Albert, Ann-Liz Träskelin, and Eeva Juvonen (1993). “Truncated Erythropoietin Receptor Causes Dominantly Inherited Benign Human Erythrocytosis.”
Proceedings of the National Academy of Sciences
, 90:4495–99.

EPILOGUE

The Perfect Athlete

286
Williams, Alun G., and Jonathan P. Folland (2008). “Similiarity of Polygenic Profiles Limits the Potential for Elite Human Physical Performance.”
The Journal of Physiology,
586(pt. 1):113–21.

288
Cunningham, Patrick. “The Genetics of Thoroughbred Horses.”
Scientific American
(May 1991).

INDEX

The page numbers in this index refer to the printed version of this book. To find the corresponding locations in the text of this digital version, please use the “search” function on your e-reader. Note that not all terms may be searchable.

Abernethy, Bruce,
11
–12,
13
–14

Acceleron,
105

Achilles tendon,
32
–33

Ackerman, Phillip,
36
–37

ACTN3 gene,
152
–57

Adidas,
197

aerobic capacity (VO
2
max)

HERITAGE Family Study and,
80
–82,
290

high baseline aerobic fitness, and trainability,
89
–99

of sled dogs,
231

African Americans

genetic background of,
150
–51

low hemoglobin levels in,
178
–79

African ancestry.
See
race, and genetic diversity

African Athletics,
191

African origin model,
143
–44

African Running Revolution
(
Runner’s World
compilation),
190

age at which training begins,
51
–53

Alaskan huskies.
See
sled dogs

Aldrich, Cole,
139

Ali, Muhammad,
12

Allen, Joel Asaph,
140
–41

Allen’s rule of body proportions,
140
,
175

Allison, Anthony C.,
180

alpha-actinin-3,
152
–55

altitude,
210
–16

Amhara Ethiopians and,
212
–13

Andean highlanders and,
211

Beall’s study of adaptations to,
211
–14

childhood and,
215

Kalenjin and,
210
,
213
,
215

Oromo Ethiopians and,
210
,
213
–14,
215

Tibetans and,
211
–12

training at,
214
–15

Alzheimer’s disease,
253
–54,
257

Amhara,
212
–13

Andeans,
211

Andersen, Jesper,
111
–12

androgen insensitivity,
58

Anthropometrica
(Norton & Olds),
139

anthropometry,
115

ApoE gene and variants,
253
–57

Ariaal tribesmen,
240

arm span,
134
–35

artificial selection,
117

Association of Track And Field Statisticians Annual,
191

Atlas Sports Genetics,
156

attention deficit hyperactivity disorder (ADHD),
239
–40

Australian Aboriginal children, throwing skills in,
61
–62

badminton, and eye movement patterns,
13

Bailey, Drew,
282

Baker, Joe,
37
,
60

Bannister, Roger,
78
,
180
,
222

baseball

simple reaction time and,
4
–5,
6

visual acuity of major league players,
38
–43

basketball

arm span and,
134
–35

height and,
128
–34

limb-length differences and,
139

BBC,
167

Beall, Cynthia,
211
–14

Becker, Boris,
46

Beckford, William,
164

Beilock, Sian,
14

Bekele, Kenenisa,
213

Belgian Blue cattle,
102

Beneath the Surface
(Phelps),
122

Berardelli, Claudio,
220
–21,
222

Bergmann, Carl,
175

Bergmann’s rule,
175

Better Angels of Our Nature, The
(Pinker),
66

Bettis, Jerome,
259
–60

Bickard, Scott,
194

Big Bang of body types,
116
–20

bivariate overlap zone (BOZ),
117

Black Superman: A Cultural and Biological History of the People Who Became the World’s Greatest Athletes
(Cooper),
180
,
185

Blake, Yohan,
172
–73

body types,
114
–27

artificial selection and,
117

Big Bang of,
116
–20

bivariate overlap zone (BOZ) and,
117

body-part level changes,
117
–19

Eskimo,
199

genes affect on body weight,
122
–23

GIANT Consortium Study and,
122
–23

heat dissipation and,
119
–20

of Kalenjin runners,
196
–99

late nineteenth century conclusions as to ideal,
115
–16

Mexico City Olympics (1968) study of,
120
–22,
138

Nilotic,
198
–99

racial differences in,
138
–41

skeletal structure and,
123
–26

technique changes in sports and,
119

Bogues, Muggsy,
133

Boit, Mike,
186
,
187
,
203

Bol, Manute,
199

Bolt, Usain,
126
–27,
161
–62,
165
,
172
,
173
,
289

Bonds, Barry,
3
–4

Borlée, Jonathan,
284

Borlée, Kevin,
284

Bosh, Chris,
134

Bouchard, Claude,
80
–81,
96
–97,
179

boxing, and brain trauma,
254
,
255

Boyle, Doug,
77
,
85

brain automation and,
13
–14

brain trauma

ApoE4 gene and,
254
–57

in boxers and football players,
253
–54

Brand, Elton,
134

Braverman, Eric,
253

British Journal of Sports Medicine,
22
,
59
,
71

brittle bone disease,
258

Brown, Jeff,
71
–72

bully whippets,
104

Cameron, Mike,
3

Campbell-Brown, Veronica,
161
–62,
165

Campitelli, Guillermo,
21
–22,
51

Camplin, Alisa,
50

Carter, Jimmy,
218

Carter, Xavier,
174

catching skills, and depth perception,
43
–44

cattle raiding theory,
190
–91

Chase, William G.,
9
–10

Chelimo, Richard,
207

chess,
8
–10

Campitelli and Gobet’s study of,
21
–23,
51

chunking theory and,
9
–10

de Groot’s experiments and,
8
–9

range of hours to achieve expertise,
21
–23

childhood, and altitude,
215

chronic traumatic encephalopathy (CTE),
255

chunking theory,
9
–10,
11
–12,
14

Clayton, Jerry,
30

Coimbra, Erika,
71

COL1A1 gene,
257
–58

COL5A1 gene,
257
–58

Colby, Brandon,
255

collagen,
257

collagen genes (COL1A1 and COL5A1),
257
–58

Collier, Jason,
246

Collins, Malcolm,
258

Colvin, Geoff,
19

COMT gene and variants,
261
–63

cone density, and visual acuity,
39

congenital adrenal hyperplasia,
62

contrast sensitivity,
43

Cooper, Juin,
177

Cooper, Patrick,
175
–85

Cowgill, Libby,
124
–25

Cowherd, Colin,
130
,
131

CREB1 gene,
85

cricket, and occlusion test,
11
–12

cross-sectional study,
20

Cudjoe, Captain,
164
,
165
,
167

Cunego, Damiano,
280
–81

Curry, Eddy,
250
–51

CYP2E1 gene,
146
–47

Daniels, Jack,
97
–98

Danish athletes, muscle fiber study of,
111
–13

Darwin, Charles,
64
,
230
–31,
289

database of body movements,
12
–13,
284
–85

da Vinci, Leonardo,
115
,
134

Davis, Anthony,
134
–35

Dean, Herb,
263

death, and hypertrophic cardiomyopathy (HCM),
242
–51

deCODE Genetics,
149

de Groot, Adriaan,
8
–9

de la Chapelle, Albert,
57
–58,
275
–76,
280

De la Chapelle syndrome,
57
–58

de La Hoya, Oscar,
241

deliberate practice framework.
See
10,000 hours to expertise rule

depression,
239

depth perception,
43
–44

distal weight,
197

Dix, Walter,
174

dog breeding

sled dogs (
See
sled dogs)

whippets,
103
–4,
231

Dong Fangxiao,
68

dopamine,
234
,
238
,
239
–40,
261
–62

doping

of female athletes,
69

gene-doping,
106

T/E ratio testing, genes conferring immunity to,
148

DRD4 gene, 7R version of,
239
,
240

Dreger, Alice,
69

Duchenne muscular dystrophy,
152
–53

Duguay, Ron,
253
,
256

Durandt, Justin,
47
–48,
52
,
173

Easteal, Simon, 153

East Germany, and systematic doping by female athletes,
69

Ehlers-Danlos syndrome,
258

Elferink-Gemser, Marije,
46
–47

El Guerrouj, Hicham,
121

Elo, Arpad,
21

enlarged heart, and HCM,
250

EPAS1 gene,
212

EPO (hormone),
214
,
274
,
276
–77

EPOR gene (erythropoietin receptor gene),
276
–77

Mäntyranta family EPOR mutation,
273
–81

Epstein, David,
86
–89

Ericsson, K. Anders,
16
–17,
19
,
22
,
37
,
284

erythropoietin (EPO),
214
,
274
,
276
–77

Eskimo body type,
199

Estil, Frode,
280
–81

Ethiopia

Amhara,
212
–13

Oromo (
See
Oromo runners)

European Journal of Applied Physiology,
220

expert athletic performance

body types and (
See
body types)

gene-free model of (
See
gene-free model of expertise)

genetics and (
See
genes/genetics)

hardware and software paradigm (
See
hardware and software paradigm)

height and (
See
height)

of Jamaican sprinters (
See
Jamaican sprinters)

of Kalenjin runners (
See
Kalenjin runners)

malaria and muscle fiber theory (
See
malaria and muscle fiber theory)

male/female differences in (
See
male/female differences in athletic performance)

muscles and (
See
muscles)

nature
versus
nurture and,
34
–37,
282
–90

practice and (
See
practice)

skill acquisition and,
34
–37

technological enhancements and,
115

10,000 hours to expertise rule (
See
10,000 hours to expertise rule)

trainability and (
See
trainability)

Extra Mile, The
(Reed),
235

eye movement tracking,
10
–11,
13

Farrow, Damian,
91

fast-twitch muscle fibers

and fat burning capacity,
123

malaria and muscle fiber theory (
See
malaria and muscle fiber theory)

muscle growth potential and,
109
–13

sprinting and,
173

fat,
122
–23

Fetus into Man
(Tanner),
126
,
136

field hockey, and occlusion test,
7
–8

Finch, Jennie,
1
–4,
12
–13

“The Fire Inside: Bulls center Joakim Noah . . .” (
Sports Illustrated
article),
283

Flanagan, Shalane,
215
–16

“flicker,” of pitches,
42

Foé, Marc-Vivien,
246

Folland, Jonathan P.,
286
–87

follistatin,
105

football, and brain trauma,
254
–55

Fosbury, Dick,
119

Foster, Carl,
157

founder mutations,
275
–76

fractures,
258

Francis, Stephen,
171

Frank, Robert H.,
114

Fraser-Pryce, Shelly-Ann,
171
–72

FTO gene,
122
–23

Fuller, Charles,
170

Garland, Theodore,
233
–34

Garrels, Dee,
102

Gathers, Hank,
250

Gavin, Myron,
226

Gayle, Branford,
170
–71

GDF-8 gene (myostatin gene),
101
–4,
106
–7

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