The most common subtype of classical Hodgkin lymphoma in Western countries, with genetics of its own beyond the one locus shared by the disease as a whole. The variant here sits near GATA3, a transcription factor central to how immune cells develop — the same immune process the study's other nodular-sclerosis-specific loci cluster around.
Classical Hodgkin lymphoma is a cancer of the lymphatic system, and nodular sclerosis is its most common subtype in Western countries, distinguished under the microscope by bands of scar-like tissue dividing the affected lymph node.
Sud et al. 2017 combined two existing genome-wide studies with a new one and a replication stage, totaling 5,314 cases and 16,749 controls. The study found one locus (6q22.33) associated with classical Hodgkin lymphoma as a whole, and — separately — several loci specific to the nodular sclerosis subtype: 3q28, 6q23.3, 10p14, 13q34 and 16p13.13, plus additional signals within the HLA region.
The variant on this page, rs3781093, is the 10p14 nodular-sclerosis-specific locus (P = 9.5×10⁻¹³), sitting near GATA3 — a transcription factor with a well-established role in how immune cells, particularly T-helper cells, develop and specialise. The study's own summary states that its risk loci, taken together, cluster in regions of active chromatin and show an over-representation of transcription-factor binding relevant to B-cell development and immune response — GATA3's known role fits that pattern; the paper does not claim it is the specific mechanism driving this subtype, and neither does this page.
Nodular sclerosis Hodgkin lymphoma is diagnosed by lymph node biopsy and histopathology, not by genotype. Treatment follows standard Hodgkin lymphoma protocols — chemotherapy, sometimes with radiation — decided by an oncologist based on stage and individual factors. Nothing on this page changes that.
This page reports one subtype-specific locus among several the study found. GATA3's general role in immune cell development is well established; its specific role, if any, in why nodular sclerosis Hodgkin lymphoma develops is not — the study's own framing is about a broader pattern across its risk loci, not a proven mechanism for this one gene.
This page covers the nodular sclerosis subtype specifically, distinct genetically from classical Hodgkin lymphoma as a whole — the same study that found this locus also found a separate locus (6q22.33) associated with the disease broadly, not with this subtype in particular.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Nodular Sclerosis Hodgkin Lymphoma comes down to these specific, well-studied positions — not a diagnosis.
The studies behind these variants recruited participants from different ancestries — a result found in one population doesn't always transfer to another. Based on 3 of 3 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
No. It is diagnosed by lymph node biopsy and histopathology. This variant comes from a genome-wide association study and is not used diagnostically.
No — the same study found a separate locus (6q22.33) associated with classical Hodgkin lymphoma as a whole. The variant on this page is specific to the nodular sclerosis subtype.
Not established. GATA3 has a well-known general role in how immune cells develop, and the study's risk loci as a group show a pattern consistent with that kind of biology — but the paper does not claim GATA3 itself is the mechanism driving nodular sclerosis Hodgkin lymphoma, and neither does this page.
5,314 cases and 16,749 controls, combining two existing genome-wide studies with a new study and a replication stage.
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