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Implications of correlations between skin color and genetic ancestry for biomedical research
Abstract
Skin pigmentation is a central element of most discussions on 'race' and genetics. Research on the genetic basis of population variation in this phenotype, which is important in mediating both social experiences and environmental exposures, is sparse. We studied the relationship between pigmentation and ancestry in five populations of mixed ancestry with a wide range of pigmentation and ancestral proportions (African Americans from Washington, DC; African Caribbeans living in England; Puerto Ricans from New York; Mexicans from Guerrero; and Hispanics from San Luis Valley). The strength of the relationship between skin color and ancestry was quite variable, with the correlations ranging in intensity from moderately strong (Puerto Rico, rho = 0.633) to weak (Mexico, rho = 0.212). These results demonstrate the utility of ancestry-informative genetic markers and admixture methods and emphasize the need to be cautious when using pigmentation as a proxy of ancestry or when extrapolating the results from one admixed population to another.
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“The clear description of the phenotypes of interest and, to the extent possible, an explication of how those phenotypes align with genetic markers and self‐identification (Klimentidis et al., 2009; Parra et al., 2004) makes possible the beginning of the process of disentanglement of traits, genes, and race labels.”
From Skin color and race (2021) · cites this paper as Parra et al., 2004
In the citing paper
“Global ancestry, calculated from the mean of local ancestry across all SNPs, was included as a covariate to correct for ancestry stratification and any environmental variables that might covary with ancestry [16,72].”
From Investigating the case of human nose shape and climate adaptation (2017) · cites this paper as [16]
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Metadata
- Authors
- Parra, E. J., Kittles, R. A., & Shriver, M. D.
- Affiliations
- University of Toronto (CA)
- The Ohio State University (US)
- Pennsylvania State University (US)
- Corresponding author
- Shriver, M D
- Venue
- Nature Genetics
- Published
- 2004-10-26
- Volume
- 36
- Issue
- S11
- Pages
- S54-S60
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2002871809
- Cited by
- 220
- References
- 36
- Citations by year
- 2026: 2 · 2025: 5 · 2024: 2 · 2023: 7 · 2022: 8 · 2021: 8 · 2020: 8 · 2019: 5 · 2018: 10 · 2017: 7 · 2016: 14 · 2015: 9 · 2014: 9 · 2013: 20 · 2012: 14
- FWCI
- 7.83
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- DigitalGeorgetown (Georgetown University Library) (submittedVersion)
- Funders
- U.S. Department of Defense
- National Institutes of Health
- Natural Sciences and Engineering Research Council of Canada
- National Institute of Diabetes and Digestive and Kidney Diseases
- National Center for Research Resources
- Topics
- Social Sciences › Anthropology › Race, Genetics, and Society
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › melanin and skin pigmentation
- Keywords
- skin pigmentation, genetic ancestry, admixture, ancestry informative markers, race and genetics, admixed populations, African Americans, African Caribbeans, Puerto Ricans, Mexicans, Hispanic Americans, population variation
- MeSH terms
- Humans, Phenotype, Skin Pigmentation, Biomedical Research
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