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Genome-wide Association Study of Pigmentary Traits (Skin and Iris Color) in Individuals of East Asian Ancestry

NCJ Number
Date Published
11 pages
Since there is currently limited knowledge about the genetics underlying pigmentary traits in East Asian populations, this article reports the results of the first genome-wide association study of pigmentary traits (skin and iris color) in individuals of East Asian ancestry.
Researchers 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). The study also measured the color differences between the pupillary and ciliary regions of the iris (e.g., iris heterochromia). DNA samples were genotyped with Illuminas Infinium Multi-Ethnic Global Array (MEGA) and imputed using the 1000 Genomes Phase 3 samples as reference haplotypes. For skin pigmentation, we did not observe any genome-wide significant signal. Researchers followed-up in three independent Chinese samples the lead SNPs of five regions showing multiple common markers (minor allele frequency 5 percent) with good imputation scores and suggestive evidence of association (p-values < 10 5). One of these markers, rs2373391, which is in an intron of the ZNF804B gene on chromosome 7, was replicated in one of the Chinese samples (p = 0.003). For iris color, researchers 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 percent, 10.4 percent, and 6 percent of the variation observed in the b*, a* and L* coordinates in the sample, respectively; however, the OCA2 region was not associated with iris heterochromia. The researchers advise that 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. (publisher abstract modified)

Date Published: January 1, 2017