Three separate large studies, each adding loci to a genetic picture that converges on one specific mechanism: dysfunction in the germinal center where B cells normally mature, plus disrupted T-cell development.
Hodgkin lymphoma is a cancer of the lymphatic system marked by a distinctive abnormal cell (the Reed-Sternberg cell). This page holds 4 variants associated with Hodgkin lymphoma broadly, from three separate large genetic studies. It complements this site's separate page on nodular sclerosis Hodgkin lymphoma, which covers loci specific to that one subtype rather than the disease in general.
A 2014 meta-analysis of 1,816 cases and 7,877 controls, replicated in 1,281 further cases, found a novel locus in TCF3 (also known as E2A) — a known regulator of B- and T-cell lineage commitment already implicated in Hodgkin lymphoma's biology, giving the finding a direct mechanistic anchor. That study also contributes rs2069757 (IL13) to this page.
A 2017 meta-analysis of 5,314 cases and 16,749 controls found a risk locus for all classical Hodgkin lymphoma — not limited to any one subtype — at 6q22.33: rs9482849 (PTPRK). The same study separately reported several loci specific to the nodular sclerosis subtype alone, which this site's dedicated nodular sclerosis page covers instead.
A 2018 meta-analysis of 5,325 cases and 22,423 controls, the largest of the three, found 5 new risk loci and integrated gene expression, histone modification and 3D chromatin-contact data across both the new loci and 13 previously known ones. This page's rs1002658 (OLIG3) and rs7111520 (POU2AF1) come from this study.
Rather than a scattered list of statistically significant points, the 2018 study's integrated analysis converged on a specific biological story: dysfunction in the germinal center reaction (where B cells normally mature and are selected), disrupted T-cell differentiation, and constitutive activation of NF-κB, a master immune-signaling pathway. Combined with the 2014 study's TCF3/B-cell-lineage finding, three independently run studies now point at the same general area of immune biology.
Positions joined since this page was written
What this is The text above discusses the variants this page was written around. Since then the catalogue has joined 33 more positions to it, by shared trait or shared paper. They are listed here by the paper each came from; the text does not describe them, and each variant page carries that study's own record.
Osman Y et al. 2021, International journal of laboratory hematology rs150945752 (MEGF11), rs146760080 (DECR2), rs58055559 (CACNA1I), rs144433879 (ZNF526), rs200612080 (CPLANE1), rs145582672 (PGRMC1), rs138864964 (CDCP2), rs140150309 (TMEM169), rs191240658 (ESYT3), rs201642016 (SHANK2), rs141696263 (SERPINF2), rs149982219 (TEX55 and IGSF11) and 6 more — PMID:34216518
Verma A et al. 2024, Science (New York, N.Y.) rs559464313 (DRD4), rs532391514 (near PLA2G4A), rs75229018 (near LINC02838), rs138809598 (LINC02737), rs565643303 (TTL), rs377333979 (RNF141), rs547573644 (near LPAR1), rs1047391271 (NFIX), rs576160676 (GALNTL5), rs181755438 (near SHMT1) — PMID:39024449
Chen C et al. 2022, JAMA network open rs28383311 (near HLA-DQA1), rs3129198 (near COL11A2P1) — PMID:35939300
Berndt SI et al. 2022, Leukemia rs9258807 (POLR1HASP) — PMID:36273105
Kleinstern G et al. 2025, British journal of haematology rs138094736 (near HLA-DRA) — PMID:40887045
Tan DE et al. 2013, Nature genetics rs6773854 (BCL6) — PMID:23749188
2026-03-20 · FDA drug approval, March 2026
Verified against the Lymphoma Research Foundation's own account of the FDA action, cross-checked against independent oncology coverage and the drug's own FDA label. On 20 March 2026 the FDA approved nivolumab (Opdivo), a PD-1 checkpoint inhibitor, in combination with doxorubicin, vinblastine and dacarbazine (AVD chemotherapy) for adult and pediatric patients 12 years and older with previously untreated, Stage III or IV classical Hodgkin lymphoma -- the first immunotherapy combination approved for this specific first-line indication, replacing regimens that previously relied more heavily on radiation. The FDA separately gave traditional approval to nivolumab alone for relapsed/refractory classical Hodgkin lymphoma after stem cell transplant and brentuximab vedotin, or after three or more prior lines of therapy. This is a treatment-approval finding, not a genetic one, and does not involve this page's own variants (TCF3, PTPRK, OLIG3, POU2AF1) -- but it changes the frontline standard of care for the disease this page covers.
Hodgkin lymphoma is diagnosed by lymph node biopsy identifying Reed-Sternberg cells, staged by imaging — not by genotype. None of the 4 variants on this page are used by any guideline to diagnose Hodgkin lymphoma or select treatment.
The loci described above come from three of the largest Hodgkin lymphoma genetic studies conducted, together totaling well over 10,000 combined cases, with real converging mechanistic evidence around immune-cell development pathways. They explain part of who is more genetically susceptible to the disease — they are not a diagnostic test.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Hodgkin Lymphoma comes down to these specific, well-studied positions — not a diagnosis. 37 positions are linked to this page; the ones this page's own text discusses are shown first.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 5 of 37 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
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Hodgkin Lymphoma. MyGeneLog™. https://www.mygenelog.com/conditions/hodgkin-lymphoma
A cancer of the lymphatic system marked by a distinctive abnormal cell (the Reed-Sternberg cell), diagnosed by lymph node biopsy.
This page covers loci associated with Hodgkin lymphoma broadly, across all subtypes. The separate nodular sclerosis page covers loci specific to that one subtype, both drawn from the same set of source studies.
Three independent large meta-analyses (2014, 2017, 2018), together covering well over 10,000 cases, converge on immune-cell development pathways -- B-/T-cell lineage commitment, germinal center function and NF-kB signaling -- rather than isolated, unrelated loci.
No. Hodgkin lymphoma is diagnosed by lymph node biopsy. These are population-level genetic findings, not a way to predict an individual case.
Free to reuse. This page's text is original writing from freely-available research, licensed CC BY 4.0 — reuse it, including commercially, with attribution to MyGeneLog™. It's general research-derived information, not medical advice or a diagnosis — see Terms of Use.