Personalized medicine and human genetic diversity

Cold Spring Harbor Perspectives in Medicine

Volumn 4, Issue 9, 2014, Pages

  Lu, Yi Fan ^a   Goldstein, David B ^a   Angrist, Misha ^a   Cavalleri, Gianpiero ^b  

^a DUKE UNIVERSITY   (United States)

^b ROYAL COLLEGE OF SURGEONS IN IRELAND   (Ireland)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIVIRUS AGENT; BIOCHEMICAL MARKER; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; HEMOGLOBIN BETA CHAIN; INTERLEUKIN 28; PEGINTERFERON ALPHA;

AFRICAN AMERICAN; ARTICLE; DRUG RESPONSE; EAST ASIAN; EUROPEAN AMERICAN; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEPATITIS C; HISPANIC; HUMAN; HUMAN GENOME; LYSOSOME STORAGE DISEASE; MEDICAL GENETICS; NEXT GENERATION SEQUENCING; PERSONALIZED MEDICINE; PHENOTYPIC VARIATION; SICKLE CELL ANEMIA; SINGLE NUCLEOTIDE POLYMORPHISM; TAY SACHS DISEASE; DISEASES; GENETIC PREDISPOSITION; GENETICS; PROCEDURES;

HEPATITIS C VIRUS;

DISEASE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INDIVIDUALIZED MEDICINE;

EID: 84923869909     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a008581     Document Type: Article

References (33)

1. Aidoo M, Terlouw DJ, Kolczak MS, McElroy PD, ter Kuile FO, Kariuki S, Nahlen BL, Lal AA, Udhayakumar V. 2002. Protective effects of the sickle cell gene against malariamorbidity and mortality. Lancet 359: 1311–1312.
2. Alfonso-Sanchez MA, Perez-Miranda AM, Garcia-Obregon S, Pena JA. 2010. An evolutionary approach to the high frequency of the DF508 CFTR mutation in European populations. Med Hypotheses 74: 989–992.
3. Ashley-Koch A, Yang Q, Olney RS. 2000. Sickle hemoglobin (HbS) allele and sickle cell disease: A HuGE review. Am J Epidemiol 151: 839–845.
4. Bertranpetit J, Calafell F. 1996. Genetic and geographical variability in cystic fibrosis: Evolutionary considerations. Ciba Found Symp 197: 97–114; discussion 114–118.
5. Bray SM, Mulle JG, Dodd AF, Pulver AE, Wooding S, Warren ST. 2010. Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population. Proc Natl Acad Sci 107: 16222–16227.
6. Bustamante CD, Burchard EG, De la Vega FM. 2011. Genomics for the world. Nature 475: 163–165.
7. Cavalli-Sforza LL, Menozzi P, Piazza A. 1994. The history and geography of human genes. Princeton University Press, Princeton, NJ.
8. Cirulli ET, Goldstein DB. 2010. Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genets 11: 415–425.
9. Cochran G, Hardy J, Harpending H. 2006.Natural history of Ashkenazi intelligence. J Biosoc Sci 38: 659–693.
10. Epi4K Consortium, Epilepsy Phenome/Genome Project. 2013. De novo mutations in epileptic encephalopathies. Nature 501: 217–221.
11. Fernandes Filho JA, Shapiro BE. 2004. Tay–Sachs disease. Arch Neurol 61: 1466–1468.
12. Ge D, Fellay J, Thompson AJ, Simon JS, Shianna KV, Urban TJ, Heinzen EL, Qiu P, Bertelsen AH, Muir AJ, et al. 2009. Genetic variation in IL28B predicts hepatitis C treatmentinduced viral clearance. Nature 461: 399–401.
13. Ghany MG, Strader DB, Thomas DL, Seeff LB, American Association for the Study of Liver Diseases. 2009. Diagnosis, management, and treatment of hepatitis C: An update. Hepatology 49: 1335–1374.
14. Hirszfeld L, Hirszfeld H. 1919. Essai d’application des methodes au problem des races [Testing the application of methods to the question of race]. Anthropologie 29: 505–537.
15. Lewontin R. 1972. The apportionment of human diversity. In Evolutionary biology (ed. Dobzhansky T, Hecht M, Steere W), pp. 381–398. Appleton Centuary Crofts, New York.
16. Liu CH, Liu CJ, Lin CL, Liang CC, Hsu SJ, Yang SS, Hsu CS, Tseng TC, Wang CC, Lai MY, et al. 2008. Pegylated interferon-a-2a plus ribavirin for treatment-naive Asian patients with hepatitis C virus genotype 1 infection: A multicenter, randomized controlled trial. Clin Infect Dis 47: 1260–1269.
17. Lorde A. 2007. Sister outsider: Essays and speeches. Ten Speed Press, New York.
18. Manolio TA, Collins FS, Cox NJ, Goldstein DB, Hindorff LA, Hunter DJ, McCarthy MI, Ramos EM, Cardon LR, Chakravarti A, et al. 2009. Finding the missing heritability of complex diseases. Nature 461: 747–753.
19. Murdoch JD, State MW. 2013. Recent developments in the genetics of autism spectrum disorders. Curr Opin Genet Dev 23: 310–315.
20. Need AC, Goldstein DB. 2009.Next generation disparities in human genomics: Concerns and remedies. Trends Genet 25: 489–494.
21. Nei M, Roychoudhury AK. 1972. Gene differences between Caucasian, Negro, and Japanese populations. Science 177: 434–436.
22. Ostrer H, Skorecki K. 2013. The population genetics of the Jewish people. Hum Genet 132: 119–127.
23. Poolman EM, Galvani AP. 2007. Evaluating candidate agents of selective pressure for cystic fibrosis. J R Soc Interface 4: 91–98.
24. Ratjen F, Doring G. 2003. Cystic fibrosis. Lancet 361: 681-689.
25. Shepard CW, Finelli L, Alter MJ. 2005. Global epidemiology of hepatitis C virus infection. Lancet Infect Dis 5: 558-567.
26. Slatkin M. 2004. A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am J Hum Genet 75: 282–293.
27. Suppiah V, Moldovan M, Ahlenstiel G, Berg T, Weltman M, Abate ML, Bassendine M, Spengler U, Dore GJ, Powell E, et al. 2009. IL28B is associated with response to chronic hepatitis C interferon-a and ribavirin therapy. Nat Genet 41: 1100–1104.
28. Tanaka Y, Nishida N, Sugiyama M, Kurosaki M, Matsuura K, Sakamoto N, Nakagawa M, Korenaga M, Hino K, Hige S, et al. 2009. Genome-wide association of IL28B with response to pegylated interferon-a and ribavirin therapy for chronic hepatitis C. Nat Genet 41: 1105–1109.
29. The 1000 Genomes Project Consortium. 2010. A map of human genome variation from population-scale sequencing. Nature 467: 1061–1073.
30. Thomas DL, Astemborski J, Rai RM, Anania FA, Schaeffer M, Galai N, Nolt K, Nelson KE, Strathdee SA, Johnson L, et al. 2000. The natural history of hepatitis C virus infection: Host, viral, and environmental factors. JAMA 284: 450–456.
31. Thomas DL, Thio CL, Martin MP, Qi Y, Ge D, O’Huigin C, Kidd J, Kidd K, Khakoo SI, Alexander G, et al. 2009. Genetic variation in IL28B and spontaneous clearance of hepatitis C virus. Nature 461: 798–801.
32. Torkamani A, Pham P, Libiger O, Bansal V, Zhang G, Scott Van Zeeland AA, Tewhey R, Topol EJ, Schork NJ. 2012. Clinical implications of human population differences in genome-wide rates of functional genotypes. Front Genet 3: 211.
33. Via M, Gignoux C, Burchard EG. 2010. The 1000 Genomes Project: New opportunities for research and social challenges. Genome Med 2: 3.