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DOI 10.1038/s41588-018-0100-5

Медицинская библиотека · Nature genetics · 2018

Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.

Hysi Pirro G, Valdes Ana M, Liu Fan, Furlotte Nicholas A, Evans David M, Bataille Veronique, Visconti Alessia, Hemani Gibran, McMahon George, Ring Susan M, Smith George Davey, Duffy David L, Zhu Gu, Gordon Scott D, Medland Sarah E, Lin Bochao D, Willemsen Gonneke, Jan Hottenga Jouke, Vuckovic Dragana, Girotto Giorgia, Gandin Ilaria, Sala Cinzia, Concas Maria Pina, Brumat Marco, Gasparini Paolo, Toniolo Daniela, Cocca Massimiliano, Robino Antonietta, Yazar Seyhan, Hewitt Alex W, Chen Yan, Zeng Changqing, Uitterlinden Andre G, Ikram M Arfan, Hamer Merel A, van Duijn Cornelia M, Nijsten Tamar, Mackey David A, Falchi Mario, Boomsma Dorret I, Martin Nicholas G, International Visible Trait Genetics Consortium, Hinds David A, Kayser Manfred, Spector Timothy D

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Аннотация

Hair color is one of the most recognizable visual traits in European populations and is under strong genetic control. Here we report the results of a genome-wide association study meta-analysis of almost 300,000 participants of European descent. We identified 123 autosomal and one X-chromosome loci significantly associated with hair color; all but 13 are novel. Collectively, single-nucleotide polymorphisms associated with hair color within these loci explain 34.6% of red hair, 24.8% of blond hair, and 26.1% of black hair heritability in the study populations. These results confirm the polygenic nature of complex phenotypes and improve our understanding of melanin pigment metabolism in humans.

Для цитирования: Hysi Pirro G, Valdes Ana M, Liu Fan, Furlotte Nicholas A, Evans David M, Bataille Veronique, Visconti Alessia, Hemani Gibran, McMahon George, Ring Susan M, Smith George Davey, Duffy David L, Zhu Gu, Gordon Scott D, Medland Sarah E, Lin Bochao D, Willemsen Gonneke, Jan Hottenga Jouke, Vuckovic Dragana, Girotto Giorgia, Gandin Ilaria, Sala Cinzia, Concas Maria Pina, Brumat Marco, Gasparini Paolo, Toniolo Daniela, Cocca Massimiliano, Robino Antonietta, Yazar Seyhan, Hewitt Alex W, Chen Yan, Zeng Changqing, Uitterlinden Andre G, Ikram M Arfan, Hamer Merel A, van Duijn Cornelia M, Nijsten Tamar, Mackey David A, Falchi Mario, Boomsma Dorret I, Martin Nicholas G, International Visible Trait Genetics Consortium, Hinds David A, Kayser Manfred, Spector Timothy D. Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability.. Nature genetics. 2018. DOI: 10.1038/s41588-018-0100-5.

Предметные рубрики MeSH

AgedChromosomes, Human, XFemaleGenetic LociGenome-Wide Association StudyHair ColorHumansMaleMiddle AgedMultifactorial InheritancePhenotypePolymorphism, Single NucleotideWhite People
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