rs7771980
This is a coding sequence variant variant in the RUNX2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (3)
▶Association of a RUNX2 Promoter Polymorphism with Bone Mineral Density in Postmenopausal Korean WomenAssociationN=729Hee-Jung Lee et al.(2009)· Calcified Tissue International
This study examined RUNX2 promoter polymorphisms in 729 postmenopausal Korean women and found that the minor homozygote genotype (CC) at rs7771980 (-1025 T>C) was significantly associated with reduced bone mineral density at the lumbar spine (p = 0.02), trochanter (p = 0.05), and total femur (p = 0.04), suggesting RUNX2 variants may be useful genetic markers for bone metabolism.
▶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.
▶Promoter 2 -1025 T/C Polymorphism in the RUNX2 Gene Is Associated with Femoral Neck BMD in Spanish Postmenopausal WomenAssociationN=821Mariona Bustamante et al.(2007)· Calcified Tissue International
Association study of two RUNX2 gene promoter polymorphisms with bone mineral density (BMD) in 821 Spanish postmenopausal women. The -1025 T/C polymorphism (rs7771980) in promoter 2 was significantly associated with femoral neck BMD (p=0.001), with individuals carrying the TC genotype showing higher BMD (mean difference 0.036 g/cm²) compared to TT genotype. The -330 G/T polymorphism in promoter 1 showed no significant association with either lumbar spine or femoral neck BMD.
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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