共 48 条
Model-based prediction of human hair color using DNA variants
被引:110
作者:
Branicki, Wojciech
[2
,3
]
Liu, Fan
[1
]
van Duijn, Kate
[1
]
Draus-Barini, Jolanta
[2
]
Pospiech, Ewelina
[2
]
Walsh, Susan
[1
]
Kupiec, Tomasz
[2
]
Wojas-Pelc, Anna
[4
]
Kayser, Manfred
[1
]
机构:
[1] Erasmus MC Univ Med Ctr Rotterdam, Dept Forens Mol Biol, NL-3000 CA Rotterdam, Netherlands
[2] Inst Forens Res, Sect Forens Genet, PL-31033 Krakow, Poland
[3] Jagiellonian Univ, Inst Zool, Dept Genet & Evolut, PL-30060 Krakow, Poland
[4] Jagiellonian Univ, Dept Dermatol, Coll Med, PL-31501 Krakow, Poland
关键词:
GENOME-WIDE ASSOCIATION;
HUMAN EYE-COLOR;
MELANOCORTIN-1 RECEPTOR GENE;
SIGNALING PROTEIN GENE;
HUMAN PIGMENTATION;
RED HAIR;
MC1R GENE;
POLYMORPHISM;
HERC2;
OCA2;
D O I:
10.1007/s00439-010-0939-8
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
Predicting complex human phenotypes from genotypes is the central concept of widely advocated personalized medicine, but so far has rarely led to high accuracies limiting practical applications. One notable exception, although less relevant for medical but important for forensic purposes, is human eye color, for which it has been recently demonstrated that highly accurate prediction is feasible from a small number of DNA variants. Here, we demonstrate that human hair color is predictable from DNA variants with similarly high accuracies. We analyzed in Polish Europeans with single-observer hair color grading 45 single nucleotide polymorphisms (SNPs) from 12 genes previously associated with human hair color variation. We found that a model based on a subset of 13 single or compound genetic markers from 11 genes predicted red hair color with over 0.9, black hair color with almost 0.9, as well as blond, and brown hair color with over 0.8 prevalence-adjusted accuracy expressed by the area under the receiver characteristic operating curves (AUC). The identified genetic predictors also differentiate reasonably well between similar hair colors, such as between red and blond-red, as well as between blond and dark-blond, highlighting the value of the identified DNA variants for accurate hair color prediction.
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页码:443 / 454
页数:12
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