A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation.
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拉丁美洲的 GWAS 识别出新的面部形状基因座，暗示面部变异中的 VPS13B 和丹尼索瓦人渗入区域
DOI：
10.1126/sciadv.abc6160
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发表时间：
2021-03
期刊：
影响因子：
13.6
通讯作者：
Ruiz-Linares A
中科院分区：
文献类型：
--
作者：
Bonfante B;Faux P;Navarro N;Mendoza-Revilla J;Dubied M;Montillot C;Wentworth E;Poloni L;Varón-González C;Jones P;Xiong Z;Fuentes-Guajardo M;Palmal S;Chacón-Duque JC;Hurtado M;Villegas V;Granja V;Jaramillo C;Arias W;Barquera R;Everardo-Martínez P;Sánchez-Quinto M;Gómez-Valdés J;Villamil-Ramírez H;Silva de Cerqueira CC;Hünemeier T;Ramallo V;Liu F;Weinberg SM;Shaffer JR;Stergiakouli E;Howe LJ;Hysi PG;Spector TD;Gonzalez-José R;Schüler-Faccini L;Bortolini MC;Acuña-Alonzo V;Canizales-Quinteros S;Gallo C;Poletti G;Bedoya G;Rothhammer F;Thauvin-Robinet C;Faivre L;Costedoat C;Balding D;Cox T;Kayser M;Duplomb L;Yalcin B;Cotney J;Adhikari K;Ruiz-Linares A
我们在拉丁美洲进行了一项全基因组关联研究，并确定了新的面部形态基因座。为了描述拉丁美洲人面部特征的遗传基础，我们对6000多个个体进行了全基因组关联研究(GWAS)，使用了来自二维个人资料照片的59个里程碑式的测量结果和~900万个基因分型或归因于单核苷酸多态。我们检测到32个性状与32个不同基因组区域中至少1个(最多6个)的显著关联，比目前报道的强烈关联的面部形态基因座的数量增加了一倍多(从11个增加到23个)。这些GWAHs被强烈地富含在调节序列中，特别是在颅面发育期间。1p12中的相关区域包括一条古老的适应性导入区域，其中一种丹尼索瓦单倍型在美洲原住民中常见，对嘴唇厚度的影响尤其明显。在我们之前确定的九个未知的面部形态基因座中，有一个是VPS13B基因区，我们发现该区域的变异也会影响小鼠面中部的形态。
We carried out a genome-wide association study in Latin Americans and identified novel face morphology loci.. To characterize the genetic basis of facial features in Latin Americans, we performed a genome-wide association study (GWAS) of more than 6000 individuals using 59 landmark-based measurements from two-dimensional profile photographs and ~9,000,000 genotyped or imputed single-nucleotide polymorphisms. We detected significant association of 32 traits with at least 1 (and up to 6) of 32 different genomic regions, more than doubling the number of robustly associated face morphology loci reported until now (from 11 to 23). These GWAS hits are strongly enriched in regulatory sequences active specifically during craniofacial development. The associated region in 1p12 includes a tract of archaic adaptive introgression, with a Denisovan haplotype common in Native Americans affecting particularly lip thickness. Among the nine previously unidentified face morphology loci we identified is the VPS13B gene region, and we show that variants in this region also affect midfacial morphology in mice.
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影响因子：
16.6
作者：
Adhikari K;Fuentes-Guajardo M;Quinto-Sánchez M;Mendoza-Revilla J;Camilo Chacón-Duque J;Acuña-Alonzo V;Jaramillo C;Arias W;Lozano RB;Pérez GM;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;Cheeseman M;Rosique J;Bedoya G;Rothhammer F;Headon D;González-José R;Balding D;Ruiz-Linares A
通讯作者：
Ruiz-Linares A
影响因子：
4.5
作者：
Hirsch N;Eshel R;Bar Yaacov R;Shahar T;Shmulevich F;Dahan I;Levaot N;Kaplan T;Lupiáñez DG;Birnbaum RY
通讯作者：
Birnbaum RY
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
4.5
作者：
Cole JB;Manyama M;Kimwaga E;Mathayo J;Larson JR;Liberton DK;Lukowiak K;Ferrara TM;Riccardi SL;Li M;Mio W;Prochazkova M;Williams T;Li H;Jones KL;Klein OD;Santorico SA;Hallgrimsson B;Spritz RA
通讯作者：
Spritz RA
影响因子：
9.2
作者：
Chang CC;Chow CC;Tellier LC;Vattikuti S;Purcell SM;Lee JJ
通讯作者：
Lee JJ