Sensitive

Knee osteoarthritis

DOT1L · rs12978179

Where this position leads

What the study found

Who was studied 161,228 European ancestry cases, 965,985 European ancestry controls, 5,433 East Asian ancestry cases, 126,769 East Asian ancestry controls, 3,463 African or African American cases, 21,448 African or African American controls, 993 South Asian ancestry cases, 18,871 South Asian ancestry controls, 523 Hispanic cases, 2,903 Hispanic controls, 616 Admixed ancestry cases, 8,268 Admixed ancestry controls.

The effect Each copy of the T allele carried 0.96 times the odds of Knee osteoarthritis (95% confidence interval 0.946674634315458-0.965412140710935); p = 2 × 10⁻¹⁹.

How common The T allele had a frequency of about 53% in the people studied.

Where it sits Chromosome 19, band 19p13.3 — in an intron of DOT1L.

What each result means

C/C No copy of the version the research linked to Knee osteoarthritis. This is the starting point the study compared everyone against.

C/T One copy of the version the research linked to Knee osteoarthritis. That is a smaller link than two copies.

T/T Two copies of the version the research linked to Knee osteoarthritis. That is the strongest link of the three results. A link in a study is not a diagnosis.

Source

Translational genomics of osteoarthritis in 1,962,069 individuals

Hatzikotoulas K, Southam L, Stefansdottir L, Boer CG, McDonald ML, Pett JP, Park YC, Tuerlings M, Mulders R, Barysenka A, Arruda AL, Tragante V

and 162 more — show all

Rocco A, Bittner N, Chen S, Horn S, Srinivasasainagendra V, To K, Katsoula G, Kreitmaier P, Tenghe AMM, Gilly A, Arbeeva L, Chen LG, de Pins AM, Dochtermann D, Henkel C, Höijer J, Ito S, Lind PA, Lukusa-Sawalena B, Minn AKK, Mola-Caminal M, Narita A, Nguyen C, Reimann E, Silberstein MD, Skogholt AH, Tiwari HK, Yau MS, Yue M, Zhao W, Zhao W, Zhou JJ, Alexiadis G, Banasik K, Brunak S, Campbell A, Cheung JTS, Dowsett J, Faquih T, Faul JD, Fei L, Fenstad AM, Funayama T, Gabrielsen ME, Gocho C, Gromov K, Hansen T, Hudjashov G, Ingvarsson T, Johnson JS, Jonsson H, Kakehi S, Karjalainen J, Kasbohm E, Lemmelä S, Lin K, Liu X, Loef M, Mangino M, McCartney D, Millwood IY, Richman J, Roberts MB, Ryan KA, Samartzis D, Shivakumar M, Skou ST, Sugimoto S, Suzuki K, Takuwa H, Teder-Laving M, Thomas L, Tomizuka K, Turman C, Weiss S, Wu TT, Zengini E, Zhang Y, Ferreira MAR, Babis G, Baras A, Barker T, Carey DJ, Cheah KSE, Chen Z, Cheung JP, Daly M, de Mutsert R, Eaton CB, Erikstrup C, Furnes ON, Golightly YM, Gudbjartsson DF, Hailer NP, Hayward C, Hochberg MC, Homuth G, Huckins LM, Hveem K, Ikegawa S, Ishijima M, Isomura M, Jones M, Kang JH, Kardia SLR, Kloppenburg M, Kraft P, Kumahashi N, Kuwata S, Lee MTM, Lee PH, Lerner R, Li L, Lietman SA, Lotta L, Lupton MK, Mägi R, Martin NG, McAlindon TE, Medland SE, Michaëlsson K, Mitchell BD, Mook-Kanamori DO, Morris AP, Nabika T, Nagami F, Nelson AE, Ostrowski SR, Palotie A, Pedersen OB, Rosendaal FR, Sakurai-Yageta M, Schmidt CO, Sham PC, Singh JA, Smelser DT, Smith JA, Song YQ, Sørensen E, Tamiya G, Tamura Y, Terao C, Thorleifsson G, Troelsen A, Tsezou A, Uchio Y, Uitterlinden AG, Ullum H, Valdes AM, van Heel DA, Walters RG, Weir DR, Wilkinson JM, Winsvold BS, Yamamoto M, Zwart JA, Stefansson K, Meulenbelt I, Teichmann SA, van Meurs JBJ, Styrkarsdottir U, Zeggini E

arcOGEN Consortium · ARGO Consortium · DBDS Genomic Consortium · Estonian Biobank Research Team · FinnGen · Genes & Health Research Team · HUNT All-In Pain · Million Veteran Program · Regeneron Genetics Center

Nature · 2025 · PMID 40205036 · open access

Questions about rs12978179

What is rs12978179?

rs12978179 is a single position in the genome, in or near the DOT1L gene. Published research associates it with knee osteoarthritis. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs12978179 linked to?

On MyGeneLog this position is linked to Knee Osteoarthritis. The research behind each link, and its sources, are set out on that condition page.

Does having rs12978179 mean I will get this?

No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.

Where does the information about rs12978179 come from?

GWAS Catalog, Nature 2025, PMID:40205036. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Knee osteoarthritis (rs12978179). MyGeneLog™. https://www.mygenelog.com/variants/rs12978179

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