{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,24]],"date-time":"2026-03-24T03:32:13Z","timestamp":1774323133421,"version":"3.50.1"},"reference-count":61,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2015,9,10]],"date-time":"2015-09-10T00:00:00Z","timestamp":1441843200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Canadian National Science Research Council (NSERC) (to E.J.P.), NSERC-CGS-D (to M.E.), and Department of Justice (to H.L.N. and E.J.P.)","award":["2013-DNA-BX-K0111"],"award-info":[{"award-number":["2013-DNA-BX-K0111"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Phys Anthropol"],"published-print":{"date-parts":[[2016,8]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>The main goals of this study are to 1) quantitatively measure skin, hair, and iris pigmentation in a diverse sample of individuals, 2) describe variation within and between these samples, and 3) demonstrate how quantitative measures can facilitate genotype\u2010phenotype association tests.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>We quantitatively characterize skin, hair, and iris pigmentation using the Melanin (<jats:italic>M<\/jats:italic>) Index (skin) and CIELab values (hair) in 1,450 individuals who self\u2010identify as African American, East Asian, European, Hispanic, or South Asian. We also quantify iris pigmentation in a subset of these individuals using CIELab values from high\u2010resolution iris photographs. We compare mean skin <jats:italic>M<\/jats:italic> index and hair and iris CIELab values among populations using ANOVA and MANOVA respectively and test for genotype\u2010phenotype associations in the European sample.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All five populations are significantly different for skin (<jats:italic>P<\/jats:italic> &lt;2 \u00d7 10<jats:sup>\u221216<\/jats:sup>) and hair color (<jats:italic>P<\/jats:italic> &lt;2 \u00d7 10<jats:sup>\u221216<\/jats:sup>). Our quantitative analysis of iris and hair pigmentation reinforces the continuous, rather than discrete, nature of these traits. We confirm the association of three loci (rs16891982, rs12203592, and rs12913832) with skin pigmentation and four loci (rs12913832, rs12203592, rs12896399, and rs16891982) with hair pigmentation. Interestingly, the derived rs12203592 T allele located within the <jats:italic>IRF4<\/jats:italic> gene is associated with lighter skin but darker hair color.<\/jats:p><\/jats:sec><jats:sec><jats:title>Discussion<\/jats:title><jats:p>The quantitative methods used here provide a fine\u2010scale assessment of pigmentation phenotype and facilitate genotype\u2010phenotype associations, even with relatively small sample sizes. This represents an important expansion of current investigations into pigmentation phenotype and associated genetic variation by including non\u2010European and admixed populations. Am J Phys Anthropol 160:570\u2013581, 2016. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajpa.22861","type":"journal-article","created":{"date-parts":[[2015,9,10]],"date-time":"2015-09-10T14:57:11Z","timestamp":1441897031000},"page":"570-581","source":"Crossref","is-referenced-by-count":25,"title":["Quantitative assessment of skin, hair, and iris variation in a diverse sample of individuals and associated genetic variation"],"prefix":"10.1002","volume":"160","author":[{"given":"Heather L.","family":"Norton","sequence":"first","affiliation":[{"name":"Department of Anthropology University of Cincinnati Cincinnati OH 45238"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Edwards","sequence":"additional","affiliation":[{"name":"Department of Anthropology University of Toronto Mississauga Toronto ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Krithika","sequence":"additional","affiliation":[{"name":"Department of Anthropology University of Toronto Mississauga Toronto ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monique","family":"Johnson","sequence":"additional","affiliation":[{"name":"Department of Anthropology University of Toronto Mississauga Toronto ON, Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth A.","family":"Werren","sequence":"additional","affiliation":[{"name":"Department of Anthropology University of Cincinnati Cincinnati OH 45238"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esteban J.","family":"Parra","sequence":"additional","affiliation":[{"name":"Department of Anthropology University of Toronto Mississauga Toronto ON, 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