rs1021188

This is a intergenic variant variant.

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GWAS Catalog Trait Associations (1)

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

bone tissue density

Paternoster L et al. “Genome-wide association meta-analysis of cortical bone mineral density unravels allelic heterogeneity at the RANKL locus and potential pleiotropic effects on bone.” Plos Genetics 6(11):e1001217 (2010)
Allele C
OR 3.89
p 2.0e-14
N 1,934
Meta-analysis
European
Paternoster L et al. “Genetic determinants of trabecular and cortical volumetric bone mineral densities and bone microstructure.” Plos Genetics 9(2):e1003247 (2013)
Allele C
OR 0.15
p 4.0e-14
N 5,878
Large GWAS
European
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Research that mentions this SNP (2)

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Association Between Single Nucleotide Polymorphisms in NFATC1 Signaling Pathway Genes and Susceptibility to Congenital Heart Disease in the Chinese Population
AssociationN=570Fengyu Wang et al.(2016)· Pediatric Cardiology

Case-control study of 277 Chinese CHD patients and 293 controls examining 29 SNPs in NFATC1 signaling pathway genes (NFATC1, VEGFR, VEGF, RANKL, FGFR1, BCL-6, ZNRD1). After Bonferroni correction, rs4531631 (RANKL) showed significant association with increased CHD risk (homozygous AA vs. GG: OR 2.38, p=0.001; recessive: OR 2.54, p=0.0003), as did rs13317 (FGFR1) (recessive CC vs. CT/TT: OR 2.06, p=0.00196). Authors suggest these variants may be potential biomarkers for genetic diagnosis and treatment of CHD.

Traits studied:Atrial Septal DefectCongenital Heart DiseaseTetralogy of FallotVentricular Septal Defect
PubMedDOIMetascience Observatory
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Analyses of RANK and RANKL in the Post-GWAS Context: Functional Evidence of Vitamin D Stimulation Through a RANKL Distal Region
AssociationN=518Guy Yoskovitz et al.(2013)· Journal of Bone and Mineral Research

This genetic association study examined four SNPs in the RANK/RANKL/OPG signaling pathway in 518 elite athletes (125 with stress fractures, 376 controls). rs3018362 (RANK) and rs1021188 (RANKL) were significantly associated with stress fracture injury (p=0.008 and p=0.024, respectively). rs1021188 homozygotes were 2.93-fold more likely to have stress fractures (OR 2.93, 95% CI 1.18-7.28). In multiple stress fracture analysis, rs4355801 (OPG) carriers showed increased risk (OR 2.05). The RANK/RANKL/OPG pathway appears to contribute to stress fracture susceptibility in elite athletes.

Traits studied:Multiple stress fracturesStress fracture in elite athletesStress fracture injury
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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