215 High-altitude Ethiopians have larger forced expiratory volume of airflow than Ethiopian lowlanders. (Also contains a table with some measures of stature and sitting height in Ethiopians):
Harrison, G. A., et al. (1969). “The Effects of Altitudinal Variation in Ethiopian Populations.” Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 805(256):147–82.
220 Claudio Berardelli’s coauthored paper on the running economy of European and Kenyan runners:
Tam, E., et al. (2012). “Energetics of Running Top-Level Marathon Runners from Kenya.” European Journal of Applied Physiology, 112(11):3797–806.
221 Andrew M. Jones’s years of physiological testing on Paula Radcliffe:
Jones, Andrew M. (2006) “The Physiology of the World Record Holder for the Women’s Marathon.” International Journal of Sports Science & Coaching, 1(2):101–16.
222 Sir Roger Bannister’s quote appeared in the June 20, 1955, issue of Sports Illustrated.
14
Sled Dogs, Ultrarunners, and Couch Potato Genes
223 A candid and engrossing account of Lance Mackey’s life, in his own words:
Mackey, Lance. The Lance Mackey Story: How My Obsession with Dog Mushing Saved My Life. Zorro Books, 2010.
231 Physiologist and veterinarian Michael Davis (Oklahoma State University) gave an accessible talk on his research on the exercise adaptation of sled dogs at Texas A&M’s Huffines Discussion 2012. (I was also an invited speaker, and had the pleasure of discussing Dr. Davis’s work with him.) His talk can be found here: http://huffinesinstitute.org/resources/videos/entryid/330/huffines-discussion-2012-oklahoma-states-dr-michael-davis.
232 The genetics of Alaskan huskies:
Huson, Heather J., et al. (2010). “A Genetic Dissection of Breed Composition and Performance Enhancement in the Alaskan Sled Dog.” BMC Genetics, 11:71.
234 Garland’s coauthored work on dopamine, Ritalin, and “running-junkie” mice:
Rhodes, J. S., S. C. Gammie, and T. Garland Jr. (2005). “Neurobiology of Mice Selected for High Voluntary Wheel-Running Activity.” Integrative and Comparative Biology, 45(3):438–55.
236 The University of Wisconsin mice to which Pam Reed compared herself:
Rhodes, J. S., T. Garland Jr., and S. C. Gammie (2003). “Patterns of Brain Activity Associated with Variation in Voluntary Wheel Running Behavior.” Behavioral Neuroscience, 117(6):1243–56.
237 Background on the scientific study of dopamine and addiction:
Holden, Constance (2001). “‘Behavioral’ Addictions: Do They Exist?” Science, 294:980–82.
Peirce, R. C., and V. Kumaresan (2006). “The Mesolimbic Dopamine System: The Final Common Pathway for the Reinforcing Effect of Drugs of Abuse?” Neuroscience & Biobehavioral Reviews, 30(2):215–38.
238 Every human study conducted has found that voluntary physical activity is significantly heritable:
Lightfoot, J. Timothy (2011). “Current Understanding of the Genetic Basis for Physical Activity.” Journal of Nutrition, 141(3):526–30.
238 In thirteen thousand Swedish twin pairs, identical twins were far more likely to be similarly active or inactive:
Carlsson, S., et al. (2006). “Genetic Effects on Physical Activity: Results from the Swedish Twin Registry.” Medicine & Science in Sports & Exercise, 38(8):1396–1401.
238 When activity is directly measured with accelerometers, the difference
between fraternal and identical twins holds:
Joosen, A. M., et al. (2005). “Genetic Analysis of Physical Activity in Twins.” American Journal of Clinical Nutrition, 82(6):1253–59.
238 Stubbe, Janine H., et al. (2006). “Genetic Influences on Exercise Participation in 37,051 Twin Pairs from Seven Countries.” PLoS ONE, 1:e22.
239 Review of research on the dopamine system—and early work on genes—and voluntary physical activity:
Knab, Amy M., and J. Timothy Lightfoot (2010). “Title: Does the Difference Between Physically Active and Couch Potato Lie in the Dopamine System?” International Journal of Biological Science, 6(2):133–50.
239 DRD4-7R and ADHD:
Li, D., et al. (2006). “Meta-analysis Shows Significant Association Between Dopamine System Genes and Attention Deficit Hyperactivity Disorder (ADHD).” Human Molecular Genetics, 15(14):2276–84.
Swanson, J. M., et al. (2007). “Etiologic Subtypes of Attention-Deficit/
Hyperactivity Disorder: Brain Imaging, Molecular Genetic and Environmental Factors and the Dopamine Hypothesis.” Neuropsychology Review, 17(1):39–59.
240 The DRD4 gene in migratory and settled cultures:
Chen, Chuansheng, et al. (1999). “Population Migration and the Variation in Dopamine D4 Receptor (DRD4) Allele Frequencies Around the Globe.” Evolution and Human Behavior, 20:309–24.
Matthews, L. J., and P. M. Butler (2011). “Novelty-Seeking DRD4 Polymorphisms Are Associated with Human Migration Distance Out-of-Africa After Controlling for Neutral Population Gene Structure.” American Journal of Physical Anthropology, 145(3):382–89.
240 The DRD4 gene and Ariaal tribesmen:
Eisenberg, Dan T. A., et al. (2008). “Dopamine Receptor Genetic Polymorphisms and Body Composition in Undernourished Pastoralists: An Exploration of Nutrition Indices Among Nomadic and Recently Settled Ariaal Men of Northern Kenya.” BMC Evolutionary Biology, 8:173.
15
The Heartbreak Gene
Death, Injury, and Pain on the Field
245 The best background resources on sudden death in athletes:
Estes III, Mark N. A., Deeb N. Salem, and Paul J. Wang, eds. Sudden Cardiac Death in the Athlete. Futura, 1998.
Maron, Barry J., ed. Diagnosis and Management of Hypertrophic Cardiomyopathy. Futura, 2004.
245 In my Sports Illustrated article “Following the Trail of Broken Hearts” (December 10, 2007), I made the analogy of an HCM mutation to a typo in Encyclopaedia Britannica. There, I analogized a single DNA base change to one typo in sixty full sets of Britannica. In this book I used thirteen full sets of Britannica. In SI, I counted each word in the Encyclopaedia Britannica set as a possible single typo. In this book, I considered each individual letter as a possible typo—a scenario that I think is more accurately compared to DNA.
245 An excellent primer on HCM, written specifically for the layman and with pictures of the heart cells:
Maron, Barry J., and Lisa Salberg. Hypertrophic Cardiomyopathy: For Patients, Their Families and Interested Physicians (2nd ed.). Wiley-Blackwell, 2006.
247 The MYH7 gene was the first, but now many mutations that cause HCM have been identified:
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 (VO2max)
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 acu
ity 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
The Sports Gene: Inside the Science of Extraordinary Athletic Performance Page 36
