rs12982744

This is a intron variant variant in the DOT1L gene.

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GWAS Catalog Trait Associations (2)

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

body height

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele G
OR 0.02
p 7.0e-57
N 525,444
Large GWAS
multi-ancestry
Lango Allen H et al. “Hundreds of variants clustered in genomic loci and biological pathways affect human height.” Nature 467(7317):832-8 (2010)
Allele G
OR —
β 0.030
p 3.0e-16
N 133,653
Large GWAS
European

osteoarthritis

Castaño Betancourt MC et al. “Genome-wide association and functional studies identify the DOT1L gene to be involved in cartilage thickness and hip osteoarthritis.” Proceedings of the National Academy of Sciences of the United States of America 109(21):8218-23 (2012)
Allele G
OR —
β 0.090
p 1.0e-11
N 6,523
Large GWAS
European
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Research that mentions this SNP (2)

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Genome‐Wide Association Study of Radiographic Knee Osteoarthritis in North American Caucasians
AssociationN=7,066Yau MS et al.(2017)· Arthritis &amp; Rheumatology

This genome-wide association study (GWAS) of radiographic tibiofemoral knee osteoarthritis in 3,898 cases and 3,168 controls from four North American cohorts identified one novel locus near LSP1P3 (rs4867568, OR=0.84, P=3.02×10⁻⁶) and confirmed associations with previously reported loci GDF5 (rs143383, OR=1.12, P=2.13×10⁻³) and FTO (rs8044769, OR=1.10, P=6.13×10⁻³). Despite the large sample size and standardized radiographic phenotyping, no variants achieved genome-wide significance, highlighting the polygenic nature of knee OA.

Traits studied:Knee osteoarthritisRadiographic tibiofemoral osteoarthritis
PubMedDOIMetascience Observatory
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Involvement of different risk factors in clinically severe large joint osteoarthritis according to the presence of hand interphalangeal nodes
Meta-analysisN=21,240Ana M. Valdes et al.(2010)· Arthritis &amp; Rheumatism

Genome-wide meta-analysis of minimal joint space width (cartilage thickness proxy) in 21,240 participants identified four novel loci for cartilage thickness and osteoarthritis: TGFA (rs2862851, beta=-0.067), PIK3R1 (rs10471753, beta=0.062), FGFR3/SLBP (rs2236995, beta=0.049), and TREH/DDX6 (rs496547, beta=-0.058), plus two previously identified loci (DOT1L and RUNX2). This is the first report linking TGFA to human OA.

Traits studied:Cartilage thickness (minimal joint space width)Hip osteoarthritis
PubMedDOIMetascience Observatory

About DOT1L

The protein encoded by this gene is a histone methyltransferase that methylates lysine-79 of histone H3. It is inactive against free core histones, but shows significant histone methyltransferase activity against nucleosomes. [provided by RefSeq, Aug 2011]

View all DOT1L variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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