A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.
A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features.
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DOI：
10.1038/ncomms10815
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发表时间：
2016-03-01
影响因子：
16.6
通讯作者：
Ruiz-Linares A
中科院分区：
文献类型：
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作者：
Adhikari K;Fontanil T;Cal S;Mendoza-Revilla J;Fuentes-Guajardo M;Chacón-Duque JC;Al-Saadi F;Johansson JA;Quinto-Sanchez M;Acuña-Alonzo V;Jaramillo C;Arias W;Barquera Lozano R;Macín Pérez G;Gómez-Valdés J;Villamil-Ramírez H;Hunemeier T;Ramallo V;Silva de Cerqueira CC;Hurtado M;Villegas V;Granja V;Gallo C;Poletti G;Schuler-Faccini L;Salzano FM;Bortolini MC;Canizales-Quinteros S;Rothhammer F;Bedoya G;Gonzalez-José R;Headon D;López-Otín C;Tobin DJ;Balding D;Ruiz-Linares A
我们报告了一项对6,000多名拉丁美洲人进行的全基因组联合扫描，以寻找头皮毛发(形状、颜色、灰白、秃顶)和面部毛发(胡须厚度、单叶胡须、眉毛厚度)的特征。我们发现了18个达到全基因组意义的关联信号(P值为5×10−8到3×10−119)，其中包括10个新关联。这些基因包括头皮毛发形状和秃顶的新基因座，以及首次报道的头发变白、单叶、眉毛和胡须厚度的基因座。一个新发现的影响毛发形状的基因座包括丝氨酸蛋白酶S1家族成员53(PRSS53)中的Q30R替换。我们证明这种酶在毛囊中高表达，特别是在内根鞘中，并且Q30R替换影响酶的加工和分泌。与头发特征相关的基因组区域丰富了选择信号，这与关于人类头发进化的观点一致。通过研究欧洲、美洲土著和非洲混合血统的拉丁美洲人，Adhikari等人说。找出影响面部和头皮毛发各种特征的新基因。这项研究还提供了实验证据，证明其中一个相关基因(PRSS53)在毛囊中表达，并且最高相关的变体改变了这种酶的加工。
We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10−8 to 3 × 10−119), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair. By examining Latin American individuals of mixed European, Native American and African ancestry, Adhikari et al. identify novel loci influencing various features of facial and scalp hair. The study also provides experimental evidence that one of the implicated genes (PRSS53) is expressed in the hair follicle and that the top associated variant alters processing of this enzyme.