rs11024028

This is a upstream gene variant variant in the SOX6 gene.

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GWAS Catalog Trait Associations (2)

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

femoral neck bone mineral density

Pei YF et al. “Joint study of two genome-wide association meta-analyses identified 20p12.1 and 20q13.33 for bone mineral density.” Bone 110:378-385 (2018)
Allele C
OR 0.06
p 3.0e-10
N 40,491
Large GWAS
multi-ancestry
Zheng HF et al. “Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.” Nature 526(7571):112-7 (2015)
Allele C
OR 0.05
p 1.0e-9
N 32,735
Large GWAS
European

spine bone mineral density

Pei YF et al. “Joint study of two genome-wide association meta-analyses identified 20p12.1 and 20q13.33 for bone mineral density.” Bone 110:378-385 (2018)
Allele C
OR 0.06
p 6.0e-10
N 40,491
Large GWAS
multi-ancestry
Zheng HF et al. “Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture.” Nature 526(7571):112-7 (2015)
Allele C
OR 0.05
p 2.0e-8
N 28,498
Large GWAS
European
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Research that mentions this SNP (1)

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Rare EN1 Variants and Pediatric Bone Mass
AssociationN=1,418Jonathan A. Mitchell et al.(2016)· Journal of Bone and Mineral Research

This study examined rare variants near EN1 and common variants near SOX6 for associations with pediatric bone mineral density in 1,418 children and adolescents (733 females, 685 males). The rare T allele of rs11692564 (EN1) was associated with higher bone density at the total hip (beta=0.62, p=9.0×10⁻⁴) and femoral neck (beta=0.53, p=0.010), with much stronger effects in females (total hip beta=0.86, p=6.6×10⁻⁶). The common G allele of rs11024028 (SOX6) was also associated with higher bone density, with differences in skeletal sites between sexes, suggesting early-life genetic mechanisms underlying osteoporosis risk.

Traits studied:Areal bone mineral density (aBMD)Bone mineral content (BMC)Osteoporosis risk
PubMedDOIMetascience Observatory

About SOX6

This gene encodes a member of the D subfamily of sex determining region y-related transcription factors that are characterized by a conserved DNA-binding domain termed the high mobility group box and by their ability to bind the minor groove of DNA. The encoded protein is a transcriptional activator that is required for normal development of the central nervous system, chondrogenesis and maintenance of cardiac and skeletal muscle cells. The encoded protein interacts with other family members to cooperatively activate gene expression. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Mar 2009]

View all SOX6 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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