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Fibroblast growth factor receptor 1 (FGFR1) variants and craniofacial variation in Amerindians and related populations

Authors

  • Jorge A. Gómez-Valdés,

    1. Laboratorio de Antropología Física, Departamento de Anatomía, Faculta de Medicina, Universidad Nacional Autónoma de Mexico, Mexico City, Mexico
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    • Jorge A. Gómez-Valdés and Tábita Hünemeier contributed equally to this work.

  • Tábita Hünemeier,

    1. Departamento de Gené tica, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
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    • Jorge A. Gómez-Valdés and Tábita Hünemeier contributed equally to this work.

  • Verônica Contini,

    1. Departamento de Gené tica, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
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  • Victor Acuña-Alonzo,

    1. Laboratorio de Genética Molecular, Escuela Nacional de Antropología e Historia, Mexico City, Mexico
    2. Instituto Nacional de Medicina Genómica, Mexico City, Mexico
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  • Gastón Macin,

    1. Laboratorio de Genética Molecular, Escuela Nacional de Antropología e Historia, Mexico City, Mexico
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  • Mónica Ballesteros-Romero,

    1. Laboratorio de Genética Molecular, Escuela Nacional de Antropología e Historia, Mexico City, Mexico
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  • Pau Corral,

    1. Department of Experimental and Health Sciences, Universidad Pompeu Fabra, Barcelona, Spain
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  • Andres Ruiz-Linares,

    1. Department of Genetics, Evolution and Environment, University College London, London, United Kingdom
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  • Gabriela Sánchez-Mejorada,

    1. Laboratorio de Antropología Física, Departamento de Anatomía, Faculta de Medicina, Universidad Nacional Autónoma de Mexico, Mexico City, Mexico
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  • Samuel Canizales-Quinteros,

    1. Laboratorio de Antropología Física, Departamento de Anatomía, Faculta de Medicina, Universidad Nacional Autónoma de Mexico, Mexico City, Mexico
    2. Unidad de Biologia Molecular y Medicina Genomica, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico
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  • Neus Martínez-Abadías,

    1. EMBL-CRG Systems Biology Research Unit, Centre for Genomic Regulation (CRG), UPF, Barcelona, Spain
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  • Francisco M. Salzano,

    1. Departamento de Gené tica, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
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  • Rolando González-José,

    1. Centro Nacional Patagónico, CONICET, Puerto Madryn, Argentina
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  • Maria cátira Bortolini

    Corresponding author
    1. Departamento de Gené tica, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil
    • Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Caixa Postal 15053, 91501-970 Porto Alegre, RS, Brazil
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Abstract

Objectives:

The polymorphic site rs4647905 of the FGFR1 gene was previously associated with a decrease in cephalic index (CI). Here, we evaluate the relationships between genotypes and cephalometric measurements and indices in one Mexican Native and two mestizo Mexican populations using two haplotype-tag SNPs (rs4647905 and rs3213849) that represent >85% of the FGFR1 variability, plus three other SNPs (rs2293971, rs2304000, and rs930828) situated nearby. In addition, we genotyped five South American natives, two European, one African, and one Siberian populations to evaluate their intra and intercontinental population diversity.

Methods:

The five SNPs were tested and the craniofacial measurements and indices were collected using standardized procedures. Principal Component Analysis was used to verify individual/population comparisons. Associations were performed through the generalized linear model (GLM), coefficient of determination R2 and linear regression tests.

Results:

We found a tendency for a decrease in CI in individuals homozygous for allele rs4647905C, regardless of the population to which they belong, though the effect is more pronounced in mestizo. When the GLM analyses were performed using the absolute/linear cephalometric measurements, a statistically significant association was found between four SNPs and head length in the mestizo population.

Conclusions:

FGFR1 polymorphisms, especially rs4647905, can have an important role in the normal human skull variation, primarily due to their influence in head length, which would affect other cephalometric absolute/linear measures as well as indices like CI as a result of the pervasive nature of the morphological integration that characterizes the human skull. Am. J. Hum. Biol. 2013. © 2012 Wiley Periodicals, Inc.

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