| Title |
Skin pigmentation, biogeographical ancestry and admixture mapping
|
|---|---|
| Published in |
Human Genetics, February 2003
|
| DOI | 10.1007/s00439-002-0896-y |
| Pubmed ID | |
| Authors |
Mark D. Shriver, Esteban J. Parra, Sonia Dios, Carolina Bonilla, Heather Norton, Celina Jovel, Carrie Pfaff, Cecily Jones, Aisha Massac, Neil Cameron, Archie Baron, Tabitha Jackson, George Argyropoulos, Li Jin, Clive J. Hoggart, Paul M. McKeigue, Rick A. Kittles |
| Abstract |
Ancestry informative markers (AIMs) are genetic loci showing alleles with large frequency differences between populations. AIMs can be used to estimate biogeographical ancestry at the level of the population, subgroup (e.g. cases and controls) and individual. Ancestry estimates at both the subgroup and individual level can be directly instructive regarding the genetics of the phenotypes that differ qualitatively or in frequency between populations. These estimates can provide a compelling foundation for the use of admixture mapping (AM) methods to identify the genes underlying these traits. We present details of a panel of 34 AIMs and demonstrate how such studies can proceed, by using skin pigmentation as a model phenotype. We have genotyped these markers in two population samples with primarily African ancestry, viz. African Americans from Washington D.C. and an African Caribbean sample from Britain, and in a sample of European Americans from Pennsylvania. In the two African population samples, we observed significant correlations between estimates of individual ancestry and skin pigmentation as measured by reflectometry (R(2)=0.21, P<0.0001 for the African-American sample and R(2)=0.16, P<0.0001 for the British African-Caribbean sample). These correlations confirm the validity of the ancestry estimates and also indicate the high level of population structure related to admixture, a level that characterizes these populations and that is detectable by using other tests to identify genetic structure. We have also applied two methods of admixture mapping to test for the effects of three candidate genes (TYR, OCA2, MC1R) on pigmentation. We show that TYR and OCA2 have measurable effects on skin pigmentation differences between the west African and west European parental populations. This work indicates that it is possible to estimate the individual ancestry of a person based on DNA analysis with a reasonable number of well-defined genetic markers. The implications and applications of ancestry estimates in biomedical research are discussed. |
X Demographics
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Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Denmark | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 50% |
| Scientists | 1 | 50% |
Mendeley readers
The data shown below were compiled from readership statistics for 307 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 9 | 3% |
| United States | 8 | 3% |
| Uruguay | 3 | <1% |
| United Kingdom | 2 | <1% |
| Malaysia | 1 | <1% |
| Australia | 1 | <1% |
| Portugal | 1 | <1% |
| Colombia | 1 | <1% |
| Argentina | 1 | <1% |
| Other | 1 | <1% |
| Unknown | 279 | 91% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Ph. D. Student | 52 | 17% |
| Researcher | 51 | 17% |
| Student > Master | 44 | 14% |
| Student > Bachelor | 40 | 13% |
| Professor > Associate Professor | 19 | 6% |
| Other | 73 | 24% |
| Unknown | 28 | 9% |
| Readers by discipline | Count | As % |
|---|---|---|
| Agricultural and Biological Sciences | 121 | 39% |
| Biochemistry, Genetics and Molecular Biology | 61 | 20% |
| Medicine and Dentistry | 32 | 10% |
| Social Sciences | 23 | 7% |
| Arts and Humanities | 6 | 2% |
| Other | 27 | 9% |
| Unknown | 37 | 12% |
Attention Score in Context
This research output has an Altmetric Attention Score of 5. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 December 2023.
All research outputs
#7,310,239
of 26,017,215 outputs
Outputs from Human Genetics
#904
of 3,058 outputs
Outputs of similar age
#28,492
of 144,702 outputs
Outputs of similar age from Human Genetics
#5
of 19 outputs
Altmetric has tracked 26,017,215 research outputs across all sources so far. This one has received more attention than most of these and is in the 71st percentile.
So far Altmetric has tracked 3,058 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.1. This one has gotten more attention than average, scoring higher than 70% of its peers.
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