Neuroblastoma, as genome-wide studies have reported it: 3 positions from 2 studies, the largest recording 2,101 cases and 4,202 controls (European ancestry). Every figure comes from the studies themselves, gathered by code from the GWAS Catalog and updated as the records grow.
This is the record of what genome-wide association studies have found for Neuroblastoma (the GWAS Catalog's "Neuroblastoma"): 3 positions reported by 2 studies. The page is put together by code from the catalogue's records and the studies' own listings, and it is rebuilt whenever the records change, so it always reflects them as they stand.
Diskin SJ et al. 2012, in Nature Genetics — Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. The catalogue records its sample as 2,101 cases and 4,202 controls (European ancestry). The 2 positions on this page from it: rs4336470 (HACE1), rs17065417 (LIN28B). PMID:22941191.
Chang X et al. 2017, in Nature Communications — Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. Sample in the catalogue's record: 113 cases and 5,109 controls (European ancestry). It contributes one position: rs10895322 (MMP20). PMID:28924153.
The 3 positions lie in or near 3 genes: HACE1, LIN28B, MMP20. A gene named here is the catalogue's mapped location for a position, not a mechanism; the studies are cited above so that a reader can go to them.
The strongest association in the records is rs4336470 in HACE1, reported by Diskin SJ et al. 2012 at P = 3 × 10-11, with an odds ratio of 1.26.
Association records say which positions differ, on average, between people with Neuroblastoma and people without. They do not describe the condition, say how common it is, or tell anyone what to do, so this page does not either. For a single position, open its variant page: it gives that study's record in fixed sentences, with ClinVar's where there is one.
Neuroblastoma is diagnosed by a clinician — not from a genotype. None of the 3 variants on this page is used by any guideline to predict, screen for or diagnose it.
This page was assembled by code from association records. It holds no clinical guidance, because its sources hold none: a genome-wide study reports which positions differ between people with a condition and people without, at the population level, and that is all this page repeats. A question about a symptom, a test or a treatment belongs with a clinician.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Neuroblastoma 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
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Neuroblastoma. MyGeneLog™. https://www.mygenelog.com/conditions/neuroblastoma
In the GWAS Catalog, Neuroblastoma is filed as "Neuroblastoma". Rather than define it, this page lists the genome-wide findings: 3 positions from 2 studies, each with its study's sample and citation.
Genome-wide studies have reported 3 associated positions; the largest study behind this page recorded 2,101 cases and 4,202 controls (European ancestry). Each common variant has a small effect, and an association in a population is not a cause in any one person.
The catalogue maps the positions to 3 genes: HACE1, LIN28B, MMP20. These are where the positions sit, not proof of how they act.
No. Each variant shifts the odds only slightly, and only on average across many people. No guideline predicts Neuroblastoma from a genotype; a clinician diagnoses it.
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