rs7559271

This is a intron variant variant in the PAX3 gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

facial morphology

Paternoster L et al. “Genome-wide association study of three-dimensional facial morphology identifies a variant in PAX3 associated with nasion position.” American Journal of Human Genetics 90(3):478-85 (2012)

Allele G

OR 0.39

p 4.0e-16

N 2,185

Large GWAS

European

nose morphology trait

Adhikari K et al. “A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation.” Nature Communications 7:11616 (2016)

Allele G

OR —

β 0.082

p 4.0e-11

N 2,955

Large GWAS

Hispanic or Latin American

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Research that mentions this SNP (1)

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

AssociationN=3,118Jorge A. Gómez‐Valdés et al.(2013)· American Journal of Human Biology

Genome-wide association meta-analysis of 3,118 healthy individuals of European ancestry identified seven loci associated with normal facial morphology traits. Significant associations were found for cranial base width at 14q21.1 (rs17106852, p=1.01×10⁻⁸) and 20q12 (rs6129564, p=1.65×10⁻⁹), intercanthal width at 1p13.3 and Xq13.2, nasal width at 20p11.22, nasal ala length at 14q11.2, and upper facial depth at 11q22.1. The implicated regions contained genes with known roles in craniofacial development including MAFB, PAX9, MIPOL1, ALX3, HDAC8, and PAX1.

Traits studied:Cranial base widthIntercanthal widthLabial fissure lengthLower facial depthLower facial heightLower lip heightMiddle facial depthMorphological facial heightNasal ala lengthNasal bridge lengthNasal heightNasal protrusionNasal widthOutercanthal widthPalpebral fissure lengthPhiltrum lengthUpper facial depthUpper facial heightUpper lip height

PubMed DOI Metascience Observatory

About PAX3

This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]