The most common movement disorder, highly heritable in twin studies — and, unusually for a GWAS finding on this site, one of its risk genes comes with a direct experimental link to lower activity actually lowering risk.
Essential tremor is a common movement disorder, marked mainly by a postural and kinetic tremor of the arms and hands. Twin and family studies show it is highly heritable, but for a long time its specific molecular genetic determinants were unknown. This page holds 3 variants from the study that changed that.
A 2016 study ran a two-stage genome-wide association study of 2,807 patients and 6,441 controls of European descent, genotyping the 59 most significant markers from the discovery stage in an independent replication sample. After Bonferroni correction for multiple testing, two markers survived on their own: rs10937625, in STK32B, and rs17590046, in PPARGC1A. A third, rs12764057, in the cell-adhesion gene CTNNA3, reached significance in the combined analysis of both stages.
The study did not stop at the association. For STK32B, the authors found its expression was elevated in the cerebellar cortex — the brain region most implicated in tremor — of people with essential tremor, and mining an expression-QTL database showed the protective minor allele of rs10937625 associated with reduced STK32B expression in that same tissue. That is a rare thing on this site: a GWAS paper supplying not just a statistical association but a coherent direction — less of this gene's activity, less disease — for one of its own loci. The other two genes showed no such expression difference in the same analysis.
The same study attempted to confirm two lead variants reported by smaller, earlier essential tremor GWASs — one in SLC1A2, one in LINGO1 — using its own larger sample. Neither replicated. Since neither gene is on this site's catalogue, this is mentioned here rather than left as a silent gap: two previously reported findings did not hold up under a larger, more careful look.
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 4 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.
Skuladottir AT et al. 2024, Communications biology rs9980363 (LINC00323), rs1945016 (MIR924HG), rs17649684 (near DHX15) — PMID:38671141
Verma A et al. 2024, Science (New York, N.Y.) rs9982271 (LINC00323) — PMID:39024449
2026-06-01 · Journal of the Neurological Sciences 2026, PMID:41926874
Common genetic variants can't yet tell essential tremor apart from Parkinson's disease
Verified directly against the paper's own abstract via Europe PMC (PMID:41926874, published June 2026). Essential tremor (ET) is often misdiagnosed as other neurological disorders and vice versa. This study mapped ET genome-wide association signals onto mouse brain spatial transcriptomic data alongside Parkinson's disease, dystonia and cognition, found extensive shared genetic signal between them, and tested whether removing that shared signal improved an ET polygenic risk score's ability to classify patients. It did not -- the 'de-noised' score performed 1.33% worse (95% CI 0.30-2.35%, p=0.0129) than the plain one. The authors' own stated conclusion: existing common-variant associations cannot reliably distinguish ET from related disorders, and rare variants or other variant types not yet well explored may be needed to find ET-specific genetic factors. An honest negative/limiting result, not a new risk locus -- this page's own open-questions section already flags how little is mechanistically understood about two of its three genes; this finding extends that same caution to the field's ability to separate ET from Parkinson's at the common-variant level.
2026-03-01 · Neurosurgical Review 2026, PMID:41801476
Deep brain stimulation edges out focused ultrasound for total tremor control, meta-analysis finds
Verified directly against the paper's own abstract via Europe PMC (PMID:41801476, published March 2026). A meta-analysis of 5 cohort studies (463 patients total) compared deep brain stimulation (DBS) against MRI-guided focused ultrasound (MRgFUS) for essential tremor. DBS produced greater total tremor improvement, though both had similar overall response rates. MRgFUS carried higher rates of sensory complications (paresthesia, gait instability, swallowing difficulty); DBS carried rarer but more serious risks (infection, bleeding). The authors' own conclusion: DBS may offer better total symptom control, but larger, longer prospective studies are still needed for a definitive answer. A treatment-comparison finding, not a genetic one -- unrelated to the inherited variants (STK32B, PPARGC1A, CTNNA3) this page describes.
Essential tremor is diagnosed clinically, from the pattern and character of the tremor and by ruling out other causes — not by genotype. None of the 3 variants on this page are used by any guideline to diagnose essential tremor or select treatment.
The loci described above come from a population-level genetic study of thousands of people. STK32B's finding goes further than most, into actual gene expression in patient brain tissue — but that is still population-level mechanistic evidence, not an individual predictive test. None of these variants predict whether, or how severely, any one person will develop essential tremor.
What a 23andMe/AncestryDNA export or raw VCF can and can't tell you about Essential Tremor 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 7 linked studies with a resolved discovery ancestry.
Databases, guidelines and references
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Essential Tremor. MyGeneLog™. https://www.mygenelog.com/conditions/essential-tremor
The most common movement disorder, marked mainly by a postural and kinetic tremor of the arms and hands. Twin studies show it is highly heritable.
STK32B, where the study behind this page went beyond a statistical association: STK32B expression was elevated in the cerebellar cortex of patients, and the protective genetic variant was linked to reduced STK32B expression in that same tissue.
Not always. The study behind this page specifically tried to replicate two loci (in SLC1A2 and LINGO1) reported by earlier, smaller studies, and could not confirm either.
No. Essential tremor is diagnosed clinically, from the tremor's pattern and by ruling out other causes. These are population-level genetic findings, not a way to predict an individual case.
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