rs910586
This variant is located in the RUNX2 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
neuroimaging measurement
hip geometry
brain volume
▶Research that mentions this SNP (2)
▶Evidence of gene‐environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palateAssociationN=978Wu T. et al.(2012)· Birth Defects Research Part A: Clinical and Molecular Teratology
This study examined associations between 49 SNPs in the RUNX2 gene and nonsyndromic cleft lip with/without cleft palate (CL/P) in 326 Chinese case-parent trios. Five SNPs (rs16873396, rs10948234, rs16873401, rs545289, rs1200425) showed significant association with CL/P (nominal p<0.05, with rs545289 remaining significant after permutation testing at empiric p=0.035). The study found compelling evidence for gene-environment interaction between RUNX2 markers and environmental tobacco smoke (ETS), with eight SNPs showing significant interaction effects. These findings were partially replicated in independent European samples, particularly for rs6904353 and rs7748231.
▶Differential parental transmission of markers in RUNX2 among cleft case‐parent trios from four populationsAssociationN=298Jae Woong Sull et al.(2008)· Genetic Epidemiology
This case-parent trio study examined 298 nonsyndromic cleft lip/palate (CL/P) cases from four populations (Taiwan, Singapore, Korea, Maryland) and found that 11 contiguous SNPs in the RUNX2 gene (SNPs 5-15) showed excess maternal transmission (OR 3.00-4.00, P < 0.01), with additional excess paternal transmission at SNP rs1934328 (P = 0.002). These findings suggest RUNX2 influences CL/P risk through a parent-of-origin effect.
About RUNX2
This gene is a member of the RUNX family of transcription factors and encodes a nuclear protein with an Runt DNA-binding domain. This protein is essential for osteoblastic differentiation and skeletal morphogenesis and acts as a scaffold for nucleic acids and regulatory factors involved in skeletal gene expression. The protein can bind DNA both as a monomer or, with more affinity, as a subunit of a heterodimeric complex. Two regions of potential trinucleotide repeat expansions are present in the N-terminal region of the encoded protein, and these and other mutations in this gene have been associated with the bone development disorder cleidocranial dysplasia (CCD). Transcript variants that encode different protein isoforms result from the use of alternate promoters as well as alternate splicing. [provided by RefSeq, Jul 2016]
View all RUNX2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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