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A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

Adhikari, Kaustubh ; Fuentes-Guajardo, Macarena ; Quinto-Sánchez, Mirsha ; [et al.]

Springer Science and Business Media LLC ; 2016

In: Nature Communications Vol. 7, No. 1 ( 2016-05-19)

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In: Nature Communications, Springer Science and Business Media LLC, Vol. 7, No. 1 ( 2016-05-19)

Abstract: We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association ( P values 〈 5 × 10 −8 ) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3 . Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR , DCHS2 , RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1 . Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion.

Type of Medium: Online Resource

ISSN: 2041-1723

URL: Article

DOI: 10.1038/ncomms11616

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2016

detail.hit.zdb_id: 2553671-0

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A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia

Adhikari, Kaustubh ; Mendoza-Revilla, Javier ; Sohail, Anood ; [et al.]

Springer Science and Business Media LLC ; 2019

In: Nature Communications Vol. 10, No. 1 ( 2019-01-21)

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In: Nature Communications, Springer Science and Business Media LLC, Vol. 10, No. 1 ( 2019-01-21)

Abstract: We report a genome-wide association scan in 〉 6,000 Latin Americans for pigmentation of skin and eyes. We found eighteen signals of association at twelve genomic regions. These include one novel locus for skin pigmentation (in 10q26) and three novel loci for eye pigmentation (in 1q32, 20q13 and 22q12). We demonstrate the presence of multiple independent signals of association in the 11q14 and 15q13 regions (comprising the GRM5/TYR and HERC2/OCA2 genes, respectively) and several epistatic interactions among independently associated alleles. Strongest association with skin pigmentation at 19p13 was observed for an Y182H missense variant (common only in East Asians and Native Americans) in MFSD12 , a gene recently associated with skin pigmentation in Africans. We show that the frequency of the derived allele at Y182H is significantly correlated with lower solar radiation intensity in East Asia and infer that MFSD12 was under selection in East Asians, probably after their split from Europeans.

Type of Medium: Online Resource

ISSN: 2041-1723

URL: Article

DOI: 10.1038/s41467-018-08147-0

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2019

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Relación entre tratamiento hormonal, cirugía-ortodoncia maxilofacial, traumatismos y malformaciones craneofaciales y la asimetría fluctuante

Quinto Sánchez, Mirsha Emmanuel ; Cintas, Celia ; Ramallo, Virginia ; [et al.]

Universidad Nacional de La Plata ; 2017

In: Revista Argentina de Antropología Biológica Vol. 20, No. 1 ( 2017-12-15), p. 6-

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In: Revista Argentina de Antropología Biológica, Universidad Nacional de La Plata, Vol. 20, No. 1 ( 2017-12-15), p. 6-

Abstract: En este trabajo se evalúa la relación entre la asimetría fluctuante facial (AFF) y los tratamientos hormonales, cirugías maxilofaciales, ortodoncia, traumatismos y malformaciones. En el marco del proyecto CANDELA, se tomaron cinco fotografías faciales de 3162 voluntarios entre los 18 y 85 años. Por fotogrametría se colocaron 34 landmarks o puntos en 3D y mediante el método Procrustes ANOVA se obtuvieron valores individuales de asimetría fluctuante facial. Se realizó una prueba de ANOVA de una vía y la prueba de Welch y Levene para conocer las diferencias entre media y varianza de los valores de asimetría facial y las variables respuesta. También, se caracterizó la variación morfológica del componente asimétrico de la forma facial mediante técnicas multivariadas sobre los grupos que resultaran diferentes significativamente. Las mujeres que reportaron haber recibido algún tipo de tratamiento hormonal mostraron mayores valores de asimetría fluctuante facial respecto al grupo sin tratamiento. Esta asociación se mantuvo una vez removido el efecto de la ancestría genética y sin interactuar con el resto de variables incluidas en el análisis. Los cambios morfológicos asociados a este factor se concentran en el mentón, maxilar labio inferior, región perifrontal, región nasal y orejas. Algunos trabajos anteriores dieron cuenta de la posible relación entre la asimetría facial y los niveles de hormonas, pero no hay estudios que sustenten la relación causal o directa entre la asociación aquí planteada. El presente trabajo es una evidencia más de la asociación entre el consumo de hormonas y modificaciones de caracteres faciales en para poblaciones urbanas mestizas latinoamericanas.

Type of Medium: Online Resource

ISSN: 1853-6387 , 1514-7991

URL: Article

DOI: 10.17139/raab.2018.0020.01.06

Language: Unknown

Publisher: Universidad Nacional de La Plata

Publication Date: 2017

detail.hit.zdb_id: 2637610-6

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Disentangling Signatures of Selection Before and After European Colonization in Latin Americans

Mendoza-Revilla, Javier ; Chacón-Duque, J. Camilo ; Fuentes-Guajardo, Macarena ; [et al.]

Oxford University Press (OUP) ; 2022

In: Molecular Biology and Evolution Vol. 39, No. 4 ( 2022-04-11)

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In: Molecular Biology and Evolution, Oxford University Press (OUP), Vol. 39, No. 4 ( 2022-04-11)

Abstract: Throughout human evolutionary history, large-scale migrations have led to intermixing (i.e., admixture) between previously separated human groups. Although classical and recent work have shown that studying admixture can yield novel historical insights, the extent to which this process contributed to adaptation remains underexplored. Here, we introduce a novel statistical model, specific to admixed populations, that identifies loci under selection while determining whether the selection likely occurred post-admixture or prior to admixture in one of the ancestral source populations. Through extensive simulations, we show that this method is able to detect selection, even in recently formed admixed populations, and to accurately differentiate between selection occurring in the ancestral or admixed population. We apply this method to genome-wide SNP data of ∼4,000 individuals in five admixed Latin American cohorts from Brazil, Chile, Colombia, Mexico, and Peru. Our approach replicates previous reports of selection in the human leukocyte antigen region that are consistent with selection post-admixture. We also report novel signals of selection in genomic regions spanning 47 genes, reinforcing many of these signals with an alternative, commonly used local-ancestry-inference approach. These signals include several genes involved in immunity, which may reflect responses to endemic pathogens of the Americas and to the challenge of infectious disease brought by European contact. In addition, some of the strongest signals inferred to be under selection in the Native American ancestral groups of modern Latin Americans overlap with genes implicated in energy metabolism phenotypes, plausibly reflecting adaptations to novel dietary sources available in the Americas.

Type of Medium: Online Resource

ISSN: 0737-4038 , 1537-1719

URL: Article

DOI: 10.1093/molbev/msac076

Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2022

detail.hit.zdb_id: 2024221-9

SSG: 12

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A genome-wide association study identifies multiple loci for variation in human ear morphology

Adhikari, Kaustubh ; Reales, Guillermo ; Smith, Andrew J. P. ; [et al.]

Springer Science and Business Media LLC ; 2015

In: Nature Communications Vol. 6, No. 1 ( 2015-06-24)

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In: Nature Communications, Springer Science and Business Media LLC, Vol. 6, No. 1 ( 2015-06-24)

Abstract: Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 × 10 −8 to 3 × 10 −14 ). Four traits are associated with a functional variant in the Ectodysplasin A receptor ( EDAR ) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar -deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 ( TBX15 ) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 ( CART1 ), and we confirm that rs17023457 alters in vitro binding of CART1 .

Type of Medium: Online Resource

ISSN: 2041-1723

URL: Article

DOI: 10.1038/ncomms8500

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2015

detail.hit.zdb_id: 2553671-0

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A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

Adhikari, Kaustubh ; Fontanil, Tania ; Cal, Santiago ; [et al.]

Springer Science and Business Media LLC ; 2016

In: Nature Communications Vol. 7, No. 1 ( 2016-03-01)

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In: Nature Communications, Springer Science and Business Media LLC, Vol. 7, No. 1 ( 2016-03-01)

Abstract: 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.

Type of Medium: Online Resource

ISSN: 2041-1723

URL: Article

DOI: 10.1038/ncomms10815

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2016

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Socioeconomic Status Is Not Related with Facial Fluctuating Asymmetry: Evidence from Latin-American Populations

Quinto-Sánchez, Mirsha ; Cintas, Celia ; Silva de Cerqueira, Caio Cesar ; [et al.]

Public Library of Science (PLoS) ; 2017

In: PLOS ONE Vol. 12, No. 1 ( 2017-1-6), p. e0169287-

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In: PLOS ONE, Public Library of Science (PLoS), Vol. 12, No. 1 ( 2017-1-6), p. e0169287-

Type of Medium: Online Resource

ISSN: 1932-6203

URL: Article

DOI: 10.1371/journal.pone.0169287

DOI: 10.1371/journal.pone.0169287.g001

DOI: 10.1371/journal.pone.0169287.g002

DOI: 10.1371/journal.pone.0169287.g003

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DOI: 10.1371/journal.pone.0169287.t001

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DOI: 10.1371/journal.pone.0169287.t003

DOI: 10.1371/journal.pone.0169287.t004

DOI: 10.1371/journal.pone.0169287.t005

DOI: 10.1371/journal.pone.0169287.t006

DOI: 10.1371/journal.pone.0169287.t007

DOI: 10.1371/journal.pone.0169287.s001

DOI: 10.1371/journal.pone.0169287.s002

DOI: 10.1371/journal.pone.0169287.s003

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2017

detail.hit.zdb_id: 2267670-3

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Correction: Socioeconomic Status Is Not Related with Facial Fluctuating Asymmetry: Evidence from Latin-American Populations

Quinto-Sánchez, Mirsha ; Cintas, Celia ; Silva de Cerqueira, Caio Cesar ; [et al.]

Public Library of Science (PLoS) ; 2017

In: PLOS ONE Vol. 12, No. 2 ( 2017-2-13), p. e0172418-

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In: PLOS ONE, Public Library of Science (PLoS), Vol. 12, No. 2 ( 2017-2-13), p. e0172418-

Type of Medium: Online Resource

ISSN: 1932-6203

URL: Article

DOI: 10.1371/journal.pone.0172418

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2017

detail.hit.zdb_id: 2267670-3

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Latin Americans show wide-spread Converso ancestry and imprint of local Native ancestry on physical appearance

Chacón-Duque, Juan-Camilo ; Adhikari, Kaustubh ; Fuentes-Guajardo, Macarena ; [et al.]

Springer Science and Business Media LLC ; 2018

In: Nature Communications Vol. 9, No. 1 ( 2018-12-19)

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In: Nature Communications, Springer Science and Business Media LLC, Vol. 9, No. 1 ( 2018-12-19)

Abstract: Historical records and genetic analyses indicate that Latin Americans trace their ancestry mainly to the intermixing (admixture) of Native Americans, Europeans and Sub-Saharan Africans. Using novel haplotype-based methods, here we infer sub-continental ancestry in over 6,500 Latin Americans and evaluate the impact of regional ancestry variation on physical appearance. We find that Native American ancestry components in Latin Americans correspond geographically to the present-day genetic structure of Native groups, and that sources of non-Native ancestry, and admixture timings, match documented migratory flows. We also detect South/East Mediterranean ancestry across Latin America, probably stemming mostly from the clandestine colonial migration of Christian converts of non-European origin (Conversos). Furthermore, we find that ancestry related to highland (Central Andean) versus lowland (Mapuche) Natives is associated with variation in facial features, particularly nose morphology, and detect significant differences in allele frequencies between these groups at loci previously associated with nose morphology in this sample.

Type of Medium: Online Resource

ISSN: 2041-1723

URL: Article

DOI: 10.1038/s41467-018-07748-z

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2018

detail.hit.zdb_id: 2553671-0

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Admixture in Latin America: Geographic Structure, Phenotypic Diversity and Self-Perception of Ancestry Based on 7,342 Individuals

Ruiz-Linares, Andrés ; Adhikari, Kaustubh ; Acuña-Alonzo, Victor ; [et al.]

Public Library of Science (PLoS) ; 2014

In: PLoS Genetics Vol. 10, No. 9 ( 2014-9-25), p. e1004572-

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In: PLoS Genetics, Public Library of Science (PLoS), Vol. 10, No. 9 ( 2014-9-25), p. e1004572-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1004572

DOI: 10.1371/journal.pgen.1004572.g001

DOI: 10.1371/journal.pgen.1004572.g002

DOI: 10.1371/journal.pgen.1004572.g003

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DOI: 10.1371/journal.pgen.1004572.s015

DOI: 10.1371/journal.pgen.1004572.s016

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2014

detail.hit.zdb_id: 2186725-2

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