| Title |
Comprehensive candidate gene study highlights UGT1A and BNC2 as new genes determining continuous skin color variation in Europeans
|
|---|---|
| Published in |
Human Genetics, October 2012
|
| DOI | 10.1007/s00439-012-1232-9 |
| Pubmed ID | |
| Authors |
Leonie C. Jacobs, Andreas Wollstein, Oscar Lao, Albert Hofman, Caroline C. Klaver, André G. Uitterlinden, Tamar Nijsten, Manfred Kayser, Fan Liu |
| Abstract |
Natural variation in human skin pigmentation is primarily due to genetic causes rooted in recent evolutionary history. Genetic variants associated with human skin pigmentation confer risk of skin cancer and may provide useful information in forensic investigations. Almost all previous gene-mapping studies of human skin pigmentation were based on categorical skin color information known to oversimplify the continuous nature of human skin coloration. We digitally quantified skin color into hue and saturation dimensions for 5,860 Dutch Europeans based on high-resolution skin photographs. We then tested an extensive list of 14,185 single nucleotide polymorphisms in 281 candidate genes potentially involved in human skin pigmentation for association with quantitative skin color phenotypes. Confirmatory association was revealed for several known skin color genes including HERC2, MC1R, IRF4, TYR, OCA2, and ASIP. We identified two new skin color genes: genetic variants in UGT1A were significantly associated with hue and variants in BNC2 were significantly associated with saturation. Overall, digital quantification of human skin color allowed detecting new skin color genes. The variants identified in this study may also contribute to the risk of skin cancer. Our findings are also important for predicting skin color in forensic investigations. |
X Demographics
The data shown below were collected from the profile of 1 X user who shared this research output. Click here to find out more about how the information was compiled.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Unknown | 1 | 100% |
Demographic breakdown
| Type | Count | As % |
|---|---|---|
| Members of the public | 1 | 100% |
Mendeley readers
The data shown below were compiled from readership statistics for 100 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Brazil | 2 | 2% |
| Unknown | 98 | 98% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Bachelor | 20 | 20% |
| Student > Ph. D. Student | 19 | 19% |
| Researcher | 15 | 15% |
| Student > Master | 10 | 10% |
| Student > Doctoral Student | 5 | 5% |
| Other | 12 | 12% |
| Unknown | 19 | 19% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 29 | 29% |
| Agricultural and Biological Sciences | 27 | 27% |
| Medicine and Dentistry | 9 | 9% |
| Chemistry | 3 | 3% |
| Unspecified | 2 | 2% |
| Other | 6 | 6% |
| Unknown | 24 | 24% |
Attention Score in Context
This research output has an Altmetric Attention Score of 15. 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 24 February 2023.
All research outputs
#2,416,281
of 25,369,304 outputs
Outputs from Human Genetics
#194
of 2,958 outputs
Outputs of similar age
#16,677
of 191,610 outputs
Outputs of similar age from Human Genetics
#3
of 13 outputs
Altmetric has tracked 25,369,304 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 90th percentile: it's in the top 10% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 2,958 research outputs from this source. They typically receive a little more attention than average, with a mean Attention Score of 7.0. This one has done particularly well, scoring higher than 93% of its peers.
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We're also able to compare this research output to 13 others from the same source and published within six weeks on either side of this one. This one has done well, scoring higher than 84% of its contemporaries.