In:
PeerJ, PeerJ, Vol. 5 ( 2017-11-02), p. e3951-
Abstract:
Currently, there is limited knowledge about the genetics underlying pigmentary traits in East Asian populations. Here, we report the results of the first genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry. Methods We obtained quantitative skin pigmentation measures (M-index) in the inner upper arm of the participants using a portable reflectometer ( N = 305). Quantitative measures of iris color (expressed as L*, a* and b* CIELab coordinates) were extracted from high-resolution iris pictures ( N = 342). We also measured the color differences between the pupillary and ciliary regions of the iris (e.g., iris heterochromia). DNA samples were genotyped with Illumina’s Infinium Multi-Ethnic Global Array (MEGA) and imputed using the 1000 Genomes Phase 3 samples as reference haplotypes. Results For skin pigmentation, we did not observe any genome-wide significant signal. We followed-up in three independent Chinese samples the lead SNPs of five regions showing multiple common markers (minor allele frequency ≥ 5%) with good imputation scores and suggestive evidence of association ( p -values 〈 10 −5 ). One of these markers, rs2373391 , which is located in an intron of the ZNF804B gene on chromosome 7, was replicated in one of the Chinese samples ( p = 0.003). For iris color, we observed genome-wide signals in the OCA2 region on chromosome 15. This signal is driven by the non-synonymous rs1800414 variant, which explains 11.9%, 10.4% and 6% of the variation observed in the b*, a* and L* coordinates in our sample, respectively. However, the OCA2 region was not associated with iris heterochromia. Discussion Additional genome-wide association studies in East Asian samples will be necessary to further disentangle the genetic architecture of pigmentary traits in East Asian populations.
Type of Medium:
Online Resource
ISSN:
2167-8359
DOI:
10.7717/peerj.3951/fig-1
DOI:
10.7717/peerj.3951/fig-2
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10.7717/peerj.3951/table-1
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10.7717/peerj.3951/table-2
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10.7717/peerj.3951/table-3
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10.7717/peerj.3951/supp-1
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10.7717/peerj.3951/supp-2
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10.7717/peerj.3951/supp-3
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10.7717/peerj.3951/supp-5
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10.7717/peerj.3951/supp-6
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10.7717/peerj.3951/supp-7
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10.7717/peerj.3951/supp-8
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10.7717/peerj.3951/supp-9
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10.7717/peerj.3951/supp-10
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10.7717/peerj.3951/supp-11
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10.7717/peerj.3951/supp-12
DOI:
10.7717/peerj.3951/supp-13
Language:
English
Publisher:
PeerJ
Publication Date:
2017
detail.hit.zdb_id:
2703241-3
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