Fibroblast growth factor receptor 1 (FGFR1) variants and craniofacial variation in Amerindians and related populations. Issue 1 (16th October 2012)

• Record Type: Journal Article
• Authors: Gómez‐Valdés, Jorge A.; Hünemeier, Tábita; Contini, Verônica; Acuña‐Alonzo, Victor; Macin, Gastón; Ballesteros‐Romero, Mónica; Corral, Pau; Ruiz‐Linares, Andres; Sánchez‐Mejorada, Gabriela; Canizales‐Quinteros, Samuel; Martínez‐Abadías, Neus; Salzano, Francisco M.; González‐José, Rolando; Bortolini, Maria cátira
• Is Part Of: American journal of human biology. Volume 25:Issue 1(2013:Jan./Feb.)
• Page Start: 12
• Page End: 19
• Publication Date: 2012-10-16
• Subjects: Human biology -- Periodicals; Physical anthropology -- Periodicals; Biologie humaine -- Périodiques; Anthropologie physique -- Périodiques; 612
• DOI: 10.1002/ajhb.22331
• Languages: English
• ISSNs: 1042-0533

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>Abstract</title> <sec id="abs1-1" sec-type="section"> <title>Objectives:</title> <p>The polymorphic site rs4647905 of the <italic>FGFR1</italic> 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 <italic>FGFR1</italic> 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.</p> </sec> <sec id="abs1-2" sec-type="section"> <title>Methods:</title> <p>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 <italic>R</italic><sup>2</sup> and linear regression tests.</p> </sec> <sec id="abs1-3" sec-type="section"> <title>Results:</title> <p>We found a tendency for a decrease in CI in individuals homozygous for allele rs4647905<italic>C</italic>, 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.</p> </sec> <sec id="abs1-4" sec-type="section"> <title>Conclusions:</title> <p> <italic>FGFR1</italic> 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.</p> </sec> </abstract>