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Race and Genetics

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Cardiovascular Disease in Racial and Ethnic Minorities

Part of the book series: Contemporary Cardiology ((CONCARD))

Abstract

Race is an enigma, exhibiting no clear biological definition yet strong cultural and social meanings, particularly in the United States. However, the advent of molecular technology led to a new realization that within-group differences far exceeded between-group differences. Our knowledge of human genetic variation has grown enormously over the past few decades. Single-nucleotide polymorphisms (SNPs) are the most common form of DNA variation in the human genome. At present, there are more than 10 million SNPs in the human genome. At most genetic loci, African populations harbor some relatively common alleles that are absent in non-African populations; however, most of the alleles that are common in non-African populations are also common in African populations. Given the genetic data now available across diverse human populations, it is becoming increasingly clear that the frequency of most genetic markers do not vary much among the major continental populations. However, a number of studies that examine genetic variation across the genome have found that individuals with similar ancestral continental origins tend to cluster together, and in general, these clusters correspond to four continental groups: Sub-Saharan Africa, Europe/Western Asia, Asia, and the Americas.

Not withstanding the large amount of genetic variation shared across human groups there is a small but significant fraction of polymorphisms that are quite informative for estimating biogeographic ancestry. Interestingly, individuals self-report as African-American due to skin color and the historical classification schema referred to as the “one-drop” rule which denotes an individual with an African ancestor as Black. The first striking feature observed is that 98% of the European Americans had over 90% European ancestry, while only 34% of the African-Americans possessed over 90% West African ancestry. Variance in genetic background of study subjects is becoming more of an issue with the increasing number of genetic association studies on complex disease. Differences in genetic background among study individuals may impact the power and reliability of genetic association studies. We suggest that ancestry be used instead of race. Genetic ancestry has several salient features which are useful for biomedical studies.

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Author information

Authors and Affiliations

  1. Department of Medicine, Section of Genetic Medicine, The University of Chicago, Chicago, USA, IL

    R. A. Kittles PhD

  2. Department of Anthropology, University of Notre Dame, Notre Dame, IN, USA

    J. Benn-Torres PhD

Authors
  1. R. A. Kittles PhD
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  2. J. Benn-Torres PhD
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Editor information

Editors and Affiliations

  1. Cardiology Division, Emory University, 5355 Hunter Road, Atlanta, GA, 30349, USA

    Keith C. Ferdinand MD

  2. Department of Internal Medicine, New Hanover Regional Medical Center, 212 Walnut Street, Wilmington, NC, 28401 #101, USA

    Annemarie Armani MD

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© 2009 Humana Press, a part of Springer Science+Business Media, LLC

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Kittles, R.A., Benn-Torres, J. (2009). Race and Genetics. In: Ferdinand, K.C., Armani, A. (eds) Cardiovascular Disease in Racial and Ethnic Minorities. Contemporary Cardiology. Humana Press. https://doi.org/10.1007/978-1-59745-410-0_4

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  • DOI: https://doi.org/10.1007/978-1-59745-410-0_4

  • Publisher Name: Humana Press

  • Print ISBN: 978-1-58829-981-9

  • Online ISBN: 978-1-59745-410-0

  • eBook Packages: MedicineMedicine (R0)

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