rs742071

This is a regulatory region variant variant in the PAX7 gene.

▶

GWAS Catalog Trait Associations (2)

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

nose morphology trait

White JD et al. “Insights into the genetic architecture of the human face.” Nature Genetics 53(1):45-53 (2021)
Allele T
OR —
p 1.0e-15
N 3,566
Large GWAS
European

orofacial cleft

Ludwig KU et al. “Genome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.” Nature Genetics 44(9):968-71 (2012)
Allele T
OR 1.32
p 7.0e-9
N 2,383
Large GWAS
multi-ancestry
▶

Research that mentions this SNP (2)

▶
Replication of 13q31.1 association in nonsyndromic cleft lip with cleft palate in Europeans
AssociationN=3,436Jia Z. et al.(2015)· American Journal of Medical Genetics Part A

This replication study confirms the association between rs8001641 (13q31.1, near SPRY2) and nonsyndromic cleft lip with cleft palate (NSCLP) in European populations (p=4.02×10⁻⁵, OR=1.86, 95% CI: 1.38-2.52). In 946 pedigrees from four ancestral populations (US, Danish, Japanese, Mongolian), the authors genotyped six candidate SNPs from prior GWA meta-analyses and sequenced conserved regions near rs8001641, identifying novel rare variants with potential transcription factor binding effects.

Traits studied:Nonsyndromic cleft lip only (NSCLO)Nonsyndromic cleft lip with cleft palate (NSCLP)Nonsyndromic cleft lip with or without palate (NSCL/P)Nonsyndromic cleft palate only (NSCPO)
PubMedDOIMetascience Observatory
▶
Genetic risk factors for orofacial clefts in Central Africans and Southeast Asians
AssociationN=993Jane C. Figueiredo et al.(2014)· American Journal of Medical Genetics Part A

A targeted genome-wide study examining SNPs in three understudied populations (260 children with orofacial clefts from the DRC, Vietnam, and Philippines) confirmed four cleft susceptibility regions: 1q32.2 (IRF6), 10q25.3 (VAX1), 17q22 (NOG), and 15q13.3. Notable findings include rs10787738 near VAX1 (P=4.98E-03) and rs7987165 on chromosome 13 (P=2.2E-05) in meta-analysis, with risk alleles varying by population and no significant associations found in African populations.

Traits studied:Cleft lip with or without cleft palateNon-syndromic cleft lipNon-syndromic cleft palateOrofacial clefts
PubMedDOIMetascience Observatory

About PAX7

This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

View all PAX7 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…