Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.,Nature Communications

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Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.
Nature Communications ( IF 14.7 ) Pub Date : 2018-12-10 , DOI: 10.1038/s41467-018-07691-z
Michael D Morgan _{1,

2} , Erola Pairo-Castineira ₃ , Konrad Rawlik ₄ , Oriol Canela-Xandri _{3,

4} , Jonathan Rees ₅ , David Sims ₁ , Albert Tenesa _{3,

4} , Ian J Jackson _{3,

4}

Affiliation

Natural hair colour within European populations is a complex genetic trait. Previous work has established that MC1R variants are the principal genetic cause of red hair colour, but with variable penetrance. Here, we have extensively mapped the genes responsible for hair colour in the white, British ancestry, participants in UK Biobank. MC1R only explains 73% of the SNP heritability for red hair in UK Biobank, and in fact most individuals with two MC1R variants have blonde or light brown hair. We identify other genes contributing to red hair, the combined effect of which accounts for ~90% of the SNP heritability. Blonde hair is associated with over 200 genetic variants and we find a continuum from black through dark and light brown to blonde and account for 73% of the SNP heritability of blonde hair. Many of the associated genes are involved in hair growth or texture, emphasising the cellular connections between keratinocytes and melanocytes in the determination of hair colour.

中文翻译：

UK Biobank对头发颜色的全基因组研究解释了大多数SNP遗传力。

欧洲人口中的自然发色是一个复杂的遗传特征。先前的工作已经确定，MC1R变体是造成红色发色的主要遗传原因，但渗透率却有所不同。在这里，我们已经广泛地绘制了英国生物系参与者英国白血统中染发相关基因的图谱。在英国生物库中，MC1R仅解释了红发的SNP遗传力的73％，实际上，大多数具有两个MC1R变体的个体都有金色或浅棕色的头发。我们确定了其他导致红发的基因，这些基因的综合作用约占SNP遗传力的90％。金发与200多种遗传变异有关，我们发现了一个从黑色到深棕色和浅棕色到金发的连续体，占金发SNP遗传力的73％。

更新日期：2018-12-10

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