rs8086340

This is a regulatory region variant variant in the TNFRSF11A gene.

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GWAS Catalog Trait Associations (4)

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

Eczematoid dermatitis, allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele G
OR 1.04
p 3.0e-9
N 323,807
Major Consortium StudyLarge GWAS
European

asthma, Eczematoid dermatitis, allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele G
OR 1.03
p 7.0e-9
N 346,545
Major Consortium StudyLarge GWAS
European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele C
OR 0.00
p 1.0e-8
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
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Research that mentions this SNP (2)

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Association Analyses of RANKL/RANK/OPG Gene Polymorphisms with Femoral Neck Compression Strength Index Variation in Caucasians
AssociationN=1,873Shan-Shan Dong et al.(2009)· Calcified Tissue International

This association study of 1,873 subjects from 405 Caucasian nuclear families examined RANKL/RANK/OPG gene polymorphisms in relation to femoral neck compression strength index (fCSI). Three RANKL SNPs (rs12585014, rs7988338, rs2148073) were significantly associated with fCSI (P = 0.0007, 0.0007, and 0.0005, respectively) after Bonferroni correction, with a haplotype showing even stronger association (P = 0.0003). No significant associations were detected with bone mineral density, femoral neck width, or weight.

Traits studied:Femoral neck bone mineral densityFemoral neck compression strength indexFemoral neck widthHip fracture risk
PubMedDOIMetascience Observatory
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Is a gene important for bone resorption a candidate for obesity? An association and linkage study on the RANK (receptor activator of nuclear factor-κB) gene in a large Caucasian sample
AssociationN=4,102Lan-Juan Zhao et al.(2006)· Human Genetics

This linkage and family-based association study of 4,102 Caucasian subjects examined the RANK gene (chromosome 18q21.33) for association with obesity-related phenotypes. Linkage analysis achieved empirical P=0.004 for BMI at the RANK locus. Association testing of 18 SNPs identified 8 variants associated with obesity phenotypes (P<0.05), with strongest associations at rs11664594/SNP7 (P=0.002-0.003 for BMI, fat mass, lean mass, PFM) and rs4436867/SNP10 (P=0.002 for obesity) and rs4941125/SNP16 (P=0.001 for obesity). Multi-marker analysis showed significant association of the RANK gene with percentage fat mass (P=0.006).

Traits studied:Body mass index (BMI)Fat massLean massObesityOsteoporosisPercentage fat mass (PFM)
PubMedDOIMetascience Observatory

About TNFRSF11A

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptors can interact with various TRAF family proteins, through which this receptor induces the activation of NF-kappa B and MAPK8/JNK. This receptor and its ligand are important regulators of the interaction between T cells and dendritic cells. This receptor is also an essential mediator for osteoclast and lymph node development. Mutations at this locus have been associated with familial expansile osteolysis, autosomal recessive osteopetrosis, and Paget disease of bone. Alternatively spliced transcript variants have been described for this locus. [provided by RefSeq, Aug 2012]

View all TNFRSF11A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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