Polimorfismos del gen FGFR1 revelan la naturaleza penetrante de la integración morfológica que caracteriza al cráneo humano

Gómez-Valdés, J.A., Hünemeier, T., Contini, V., Acuña-Alonzo, V., Macin, G., Ballesteros-Romero, M., Corral, P., Ruiz-Linares, A., Sánchez-Mejorada, G., Canizales-Quinteros, S., Martínez-Abadías, N., Salzano, F.M., González-José, R. and Bortolini, M.C. Fibroblast growth factor receptor 1 (FGFR1) variants and craniofacial variation in Amerindians and related populations. American Journal of Human Biology. 25:12–19 (2013).

FIGURE 2-3 FGFR1

Genotipos de los polimorfismos rs4647905 y rs3213849 en relación a la longitud de la cabeza e índice cefálico. Se aprecia que hay una tendencia para los sujetos que son homocigotos (rs4647905CC) para presentar una cabeza estrecha (transversalmente) y alargada (antero-posterior) (dolicocefalia).
De igual manera, hemos observado una disminución del índice cefálico en la presencia del alelo rs3213849T. Este efecto se observó en el grupo mestizo, mientras que en el indígena Totonaco esta tendencia es menos pronunciada. El estudio de asociación genética corrobora la significancia de los resultados.

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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