rs10937405

This variant is located in the TP63 gene.

▶

GWAS Catalog Trait Associations (2)

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

lung adenocarcinoma

Shiraishi K et al. “A genome-wide association study identifies two new susceptibility loci for lung adenocarcinoma in the Japanese population.” Nature Genetics 44(8):900-3 (2012)
Allele C
OR 1.25
p 7.0e-17
N 7,028
Large GWAS
East Asian
Miki D et al. “Variation in TP63 is associated with lung adenocarcinoma susceptibility in Japanese and Korean populations.” Nature Genetics 42(10):893-6 (2010)
Allele C
OR 1.31
p 7.0e-12
N 2,904
Large GWAS
East Asian

level of serum globulin type protein

Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.01
p 3.0e-9
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry
▶

Research that mentions this SNP (2)

▶
A functional variant in TP63 at 3q28 associated with bladder cancer risk by creating an miR‐140‐5p binding site
AssociationN=6,832Meilin Wang et al.(2016)· International Journal of Cancer

A three-stage fine mapping study of the 3q28 bladder cancer susceptibility locus identified rs35592567 in the 3'-UTR of TP63 as a functional causal variant. The T allele was significantly associated with decreased bladder cancer risk (OR=0.82, 95% CI=0.75-0.90, P=9.797×10⁻⁶). Functional studies showed the variant affects miR-140-5p binding, regulating TP63 post-transcriptional levels and affecting bladder cancer cell proliferation, migration, and invasion.

Traits studied:Bladder cancer
PubMedDOIMetascience Observatory
▶
Genetic variant in TP63 on locus 3q28 is associated with risk of lung adenocarcinoma among never-smoking females in Asia
AssociationN=7,254Hosgood HD 3rd et al.(2012)· Human Genetics

This association study examined two TP63 SNPs (rs10937405 and rs4488809) in 3,467 never-smoking female lung cancer cases and 3,787 controls from ten Asian studies. The T allele of rs10937405 was significantly associated with lung adenocarcinoma risk (p = 7.1 × 10⁻⁸, allelic risk OR = 0.80, 95% CI = 0.74–0.87). The finding was replicated and strengthened in this larger Asian female population compared to previous GWAS.

Traits studied:Lung adenocarcinomaLung cancerSquamous cell carcinoma
PubMedDOIMetascience Observatory

About TP63

This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]

View all TP63 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…