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Encyclopedia > Race in biomedicine

Race in Biomedicine refers to an active debate among biomedical researchers about the meaning and importance of race to their research. Medical research is research conducted to aid the body of knowledge in the field of medicine. ... This article is about race as an intraspecies classification. ...


Several questions are being considered:

  • When should race be taken into account when studying humans?
  • What definition of race is appropriate for biomedical research?
  • Do the biological differences between races justify the use of racial categories in research?
  • Can genetic assignment to population groups be used in lieu of self-identified race?
  • What are the ethical implications of using race in research?

The primary impetus for considering race in biomedical research is the possibility of improving the prevention and treatment of diseases. Many previous studies have observed that disease susceptibility and environmental responses vary by race. Thus, some researchers believe that race may be an informative category for biomedical research. Others fear that the use of racial categories in research may cause social harm. Bioethics is the ethics of biological science and medicine. ... A disease is any abnormal condition of the body or mind that causes discomfort, dysfunction, or distress to the person affected or those in contact with the person. ...

Contents

Disease association studies

Race is associated with differential disease susceptibility and environmental responses. Many highly penetrant Mendelian diseases that are caused by mutations in a single gene are known to be found at higher frequencies in certain races. The HbS allele that causes haemochromatosis is found at higher frequencies in sub-Saharan Africans and Southern Europeans. Similarly, the ΔF508 allele of CFTR that causes cystic fibrosis is found in higher frequencies in Northern Europeans. It is believed that many of these mutations first occurred in the population that is most affected. Haemochromatosis, also spelled hemochromatosis, is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. ... CFTR is also abbreviation for cystic fibrosis transmembrane conductance regulator. ...


Race has also been found to be associated with susceptibility to complex, multifactorial and multigenic diseases. The incidence and death rate of prostate and breast cancers are significantly higher in African-Americans than European-Americans. Higher proportions of individual African ancestry is associated with increased susceptibility to both obesity and abnormal levels of insulin secretion. Likewise, Hispanic, American Indian, African American, Pacific Island, and South Asian ancestry is considered a risk factor for diabetes. Also, the incidence of heart disease and high blood pressure is higher in African-Americans than European-Americans. Prostate cancer is the most common type of cancer in men in the United States. ... Breast cancer is cancer of breast tissue. ... When normal cells are damaged or old they undergo apoptosis; cancer cells, however, avoid apoptosis. ... The structure of insulin Red: carbon; green: oxygen; blue: nitrogen; pink: sulfur. ... This article is about the disease that features high blood sugar. ... There are different forms of heart disease: Coronary heart disease Ischaemic heart disease Hemorrhagic heart disease Cardiovascular disease This is a disambiguation page — a navigational aid which lists other pages that might otherwise share the same title. ... Arterial hypertension, or high blood pressure is a medical condition where the blood pressure is chronically elevated. ...


The common disease-common variant (often abbreviated CD-CV) hypothesis predicts common disease causing alleles will be found in all populations. An often cited example is an allele of apolipoprotein E, APOE ε4, which is associated in a dose-dependent manner with susceptibility to Alzheimer's disease. This allele is found in Africans, Asians and Europeans. However, many disease causing alleles are found to have different (technically called epistatic) effects in different populations. For example, the increased risk of Alzheimer's disease that is associated with the APOE ε4 allele is 5-fold higher in individuals with Asian rather than African ancestry. This article is in need of attention. ... Epistasis is the control of a phenotype by two or more genes. ...


Polymorphisms in the regulatory region of the CCR5 gene affect the rate of progression to AIDS and death in HIV infected patients. While some CCR5 haplotypes are beneficial in multiple populations, other haplotypes have population-specific effects. For example, the HHE haplotype of CCR5 is associated with delayed disease progression in European-Americans, but accelerated disease progression in African-Americans. Similarly, alleles of the CARD15 (also called NOD2) gene are associated with Crohn's disease, an inflammatory bowel disorder, in European-Americans. However, none of these or any other alleles of CARD15 have been associated with Crohn's disease in African-Americans or Asians. CCR5, short for chemokine (C-C motif) receptor 5, is a cytokine receptor that macrophage-tropic viruses including HIV use as a co-receptor to enter host cells. ... AIDS (Acquired Immunodeficiency Syndrome or Acquired Immune Deficiency Syndrome, sometimes written Aids) is a global, human epidemic. ... HIV (Human Immunodeficiency Virus) is a retrovirus that infects cells of the human immune system. ... A haplotype is the genetic constitution of an individual with respect to one member of a pair of allelic genes. ... Crohns disease is a chronic inflammatory disease of the digestive tract and it can involve any part of it - from the mouth to the anus. ...

Diseases that differ in frequency by race or ethnicity (Halder & Shriver, 2003).
Disease High-risk groups Low-risk groups Reference(s)
Obesity African women, Native Americans South Asians, Pacific Islanders, Aboriginal Australians Europeans McKeigue, et al. (1991); Hodge & Zimmet (1994)
Non-insulin dependent diabetes South Asians, West Africans, Peninsular Arabs, Pacific Islanders and Native Americans Europeans Songer & Zimmet (1995); Martinez (1993)
Hypertension African Americans, West Africans Europeans Douglas et al. (1996); Gaines & Burke (1995)
Coronary heart disease South Asians West African men McKeigue, et al. (1989); Zoratti (1998)
End-stage renal disease Native Americans and African populations Europeans Ferguson & Morrissey (1993)
Dementia Europeans African Americans, Hispanic Americans Hargrave, et al. (2000)
Systemic lupus erythematosus West Africans, Native Americans Europeans Molokhia & McKeigue (2000)
Skin cancer Europeans   Boni, et al. (2002)
Lung cancer Africans, European Americans(Caucasians) Chinese, Japanese Schwartz & Swanson (1997); Shimizu, et al. (1985)
Prostate cancer Africans and African Americans   Hoffman, et al. (2001)
Multiple sclerosis Europeans Chinese, Japanese, African Americans, Turkmens, Uzbeks, Native Siberians, New Zealand Maoris Rosati (2001)
Osteoporosis European Americans African Americans Bohannon (1999)

This article is about the disease that features high blood sugar. ... In medicine, hypertension refers to the problem of abnormally high blood pressure. ... Coronary heart disease (CHD), also called coronary artery disease (CAD) and atherosclerotic heart disease, is the end result of the accumulation of atheromatous plaques within the walls of the arteries that supply the myocardium (the muscle of the heart). ... Kidneys viewed from behind with spine removed The kidneys are bean-shaped excretory organs in vertebrates. ... Dementia (from Latin demens) is progressive decline in cognitive function due to damage or disease in the brain beyond what might be expected from normal aging. ... In medicine (dermatology), there are several different types of cancer referred to under the general label of skin cancer. ... Lung cancer is a malignant tumour of the lungs. ... Prostate cancer is the most common type of cancer in men in the United States. ... Osteoporosis is a disease of bone in which the amount of bone is decreased and the strength of trabecular bone is reduced, cortical bone becomes thin and bones are susceptible to fracture. ...

Concept of race

main article: race.

In biomedical research conducted in the U.S., the 2000 US census definition of race is often applied. This grouping recognizes five races: black or African American, white, Asian, native Hawaiian or other Pacific Islander, and American Indian or Alaska native. However, this definition is inconsistently applied across the range of studies that address race as a medical factor, making assessment of the utility of racial categorization in medicine more difficult. This article is about race as an intraspecies classification. ... The United States Census Bureau uses the federal governments definitions of race when performing a census. ... Black is a color with several subtle differences in meaning. ... African Americans, also known as Afro-Americans or black Americans, are an ethnic group in the United States of America whose ancestors, usually in predominant part, were indigenous to Sub-Saharan and West Africa. ... White is a color (more accurately it contains all the colors of the spectrum and is sometimes described as an achromatic color—black is the absence of color) that has high brightness but zero hue. ... The term Asian can refer to something or someone from Asia. ... In April of 1990, Daniel K. Akaka became the first native Hawaiian and Chinese American to serve in the United States Congress as a Senator from the State of Hawaii. ... A Pacific Islander or Pacific Person (plural: Pacific People) is a term used in several places, such as New Zealand and the United States, to describe people of a certain heritage In New Zealand, it is applied to a person who has emigrated from one of the smaller islands of... Native Americans (also Indians, Aboriginal Peoples, American Indians, First Nations, Alaskan Natives, or Indigenous Peoples of America) are the indigenous inhabitants of The Americas prior to the European colonization, and their modern descendants. ... State nickname: The Last Frontier, The Land of the Midnight Sun Other U.S. States Capital Juneau Largest city Anchorage Governor Frank Murkowski Official languages English Area 1,717,854 km² (1st)  - Land 1,481,347 km²  - Water 236,507 km² (13. ...


From the perspective of genetics, human population structure is the result of patterns of mating. Historically, the greatest influence on mating patterns is geography. Genetic research has shown that the greatest genetic differentiation among humans corresponds with continental groupings. To the extent that racial labels correspond to continental groups, some argue that they are informative for biomedical research. Migration between continents in the last two centuries, with consequent racial admixture has caused some to question the significance of this notion of race to medicine. Genetics (from the Greek genno γεννώ= give birth) is the science of genes, heredity, and the variation of organisms. ... The current estimated world human population is 6,427,631,117. ... A pair of lions having sexual intercourse in the Maasai Mara, Kenya. ... Migration occurs when living things move from one biome to another. ...


In multiracial societies such as that of the United States, racial groups also differ by social and cultural correlates such as economic status and access to healthcare. These factors are believed to explain some of the differential health care outcomes among races. An open area of investigation is whether racial differences persist in studies where social and cultural correlates are taken into account. Health care or healthcare is one of the worlds largest and fastest growing professions. ...


Genetic differences among races

The existence of genetic differences among races is well accepted. In general, genetic clusters exist that correspond tightly to the census definition of race and to self-identified ancestry. One large exception to this correspondence is that South, Central, and West Asians (e.g. Asian Indians) cluster with Europeans and are separate from East Asians. The association between race and genetics also breaks down for groups, such as Hispanics, that exhibit a pattern of geographical stratification of ancestry. The biomedical relevance of genetic differences among races is a matter of debate. Some researchers argue that the available evidence supports the notion that some of the genetic differences between races have biomedical significance, and thus should be studied. Kinship and descent is one of the major concepts of cultural anthropology. ... Hispanic, as used in the United States, is one of several terms used to categorize native and naturalized U.S. citizens, permanent residents and temporary immigrants, whose background hail either from Spain, the Spanish-speaking countries of Latin America or the original settlers of the traditionally Spanish-held Southwestern United...


Genetic labelling

An alternative view argues that the underlying genetic-cluster categories can be used in lieu of racial labels for biomedical purposes. Proponents of this view argue that by directly examining the genotype, the problem of using racial labels can be avoided. Moreover, they argue that genotyping is more reliable than using self-identified race as a proxy for ancestry. Some fear that the use of racial labels in biomedical research runs the risk of unintentionally exasperating health disparities. The genotype is the specific genetic makeup (the specific genome) of an individual, usually in the form of DNA. It codes for the phenotype of that individual. ... The word proxy can mean more than one thing: a person authorized to act for another person, or upon request by another person (see eg. ...


Proponents of using race in biomedical research argue that ignoring race will be detrimental to the health of minority groups. They argue that disease risk factors differ substantially between racial groups, that relying only on genotypical classes ignores non-genetic racial factors that impact health, and, furthermore, that minorities would be poorly represented in clinical trials if race were ignored. In sociology and in voting theory, a minority is a sub-group that is outnumbered by persons who do not belong to it. ... A risk factor is a variable associated with an increased risk of disease or infection but risk factors are not necessarily causal. ... In medicine, a clinical trial (synonyms: clinical studies, research protocols, medical research) is a research study. ...


References

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  • Boni, R., Schuster, C., Nehrhoff, B. and Burg, G. (2002), ‘Epidemiology of skin cancer’, Neuroendocrinol. Lett. Vol. 23(Suppl. 2), pp. 48-51.
  • Douglas, J.G., Thibonnier, M. and Wright, Jr., J.T. (1996), ‘Essential hypertension: Racial/ethnic differences in pathophysiology’, J. Assoc. Acad. Minor. Phys. Vol. 7, pp. 16-21.
  • Editorial. Genes, drugs and race. Nature Genetics 29, 239 - 240 (2001).
  • Farrer, L. A. et al. Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium. JAMA 278, 1349-1356 (1997).
  • Ferguson, R. and Morrissey, E. (1993), ‘Risk factors for end-stage renal disease among minorities’, Transplant. Proc. Vol. 25, pp. 2415-2420.
  • Fernandez, J. R. et al. Association of African genetic admixture with resting metabolic rate and obesity among women. Obes. Res. 11, 904-911 (2003).
  • Gaines, K. and Burke, G. (1995), ‘Ethnic differences in stroke: Black-white differences in the United States population. SECORDS Investigators. Southeastern Consortium on Racial Differences in Stroke’, Neuroepidemiology Vol. 14, pp. 209-239.
  • Gonzalez, E. et al. Race-specific HIV-1 disease-modifying effects associated with CCR5 haplotypes. Proc. Natl Acad. Sci. USA. 96, 12004-12009 (1999).
  • Gower, B. A. et al. Using genetic admixture to explain racial differences in insulin-related phenotypes. Diabetes 52, 1047-1051 (2003).
  • Halder I, Shriver MD. (2003). Measuring and using admixture to study the genetics of complex diseases. Hum Genomics 1, 52-62.
  • Hardy, J., Singleton, A. & Gwinn-Hardy, K. Ethnic differences and disease phenotypes. Science 300, 739-740 (2003).
  • Hargrave, R., Stoeklin, M., Haan, M. and Reed, B. (2000), ‘Clinical aspects of dementia in African-American, Hispanic, and white patients’, J. Nat. Med. Assoc. Vol. 92, pp. 15-21.
  • Hodge, A.M. and Zimmet, P.Z. (1994), ‘The epidemiology of obesity’, Baillieres Clin. Endocrinol. Metab. Vol. 8, pp. 577-599.
  • Hoffman, R.M., Gilliland, F.D., Eley, J.W. et al. (2001), ‘Racial and ethnic differences in advanced-stage prostate cancer: The Prostate Cancer Outcomes Study’, J. Nat. Cancer Inst. Vol. 93, pp. 388-395.
  • Holden, C. Race and medicine. Science 302, 594-596 (2003).
  • Hugot, J. P. et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411, 599-603 (2001).
  • Inoue, N. Lack of common NOD2 variants in Japanese patients with Crohn's disease. Gastroenterology 123, 86-91 (2002).
  • Martin, M. P. et al. Genetic acceleration of AIDS progression by a promoter variant of CCR5. Science 282, 1907-1911 (1998).
  • Martinez, N.C. (1993), ‘Diabetes and minority populations. Focus on Mexican Americans’, Nurs. Clin. North Am. Vol. 28, pp. 87-95.
  • Martinson, J. J., Chapman, N. H., Rees, D. C., Liu, Y. T. & Clegg, J. B. Global distribution of the CCR5 gene 32-basepair deletion. Nature Genet. 16, 100-103 (1997).
  • McKeigue, P.M., Miller, G.J. and Marmot, M.G. (1989), ‘Coronary heart disease in south Asians overseas: A review’, J. Clin. Epidemiol. Vol. 42, pp. 597-609.
  • McKeigue, P.M., Shah, B. and Marmot, M.G. (1991), ‘Relation of central obesity and insulin resistance with high diabetes prevalence and cardiovascular risk in South Asians’, Lancet Vol. 337, pp. 382-386.
  • Molokhia, M. and McKeigue, P.M. (2000), ‘Risk for rheumatic disease in relation to ethnicity and admixture’, Arthritis Res. Vol. 2, pp. 115-125.
  • Ogura, Y. et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411, 603-606 (2001).
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  • Rosati, G. (2001), ‘The prevalence of multiple sclerosis in the world: An update’, Neurol. Sci. Vol. 22, pp. 117-139.
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