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Association Analysis of HSF1 Variable Number Tandem Repeat Expansion and Coding Variants with Essential Tremor Risk

Sheng Zeng1, Yuwen Zhao2, Dong Chang3

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|February 23, 2026
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Summary

A variable number tandem repeat (VNTR) expansion in HSF1 is not a significant risk factor for essential tremor (ET). Our study found no association between HSF1 VNTRs or rare damaging variants and ET in large cohorts.

Keywords:
HSF1HiFi sequencingessential tremorriskvariable number tandem repeats

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Area of Science:

  • Genetics
  • Neurology
  • Movement Disorders

Background:

  • Essential tremor (ET) is a common neurological disorder.
  • A recent study suggested a link between HSF1 gene variable number tandem repeat (VNTR) expansion and ET.

Purpose of the Study:

  • To investigate the association between HSF1 VNTR expansions and essential tremor.
  • To explore rare damaging coding variants in HSF1 as potential risk factors for ET.

Main Methods:

  • Analyzed HSF1 VNTR in a HiFi cohort (n=159) and a case-control cohort (n=2121) using fluorescent polymerase chain reaction (PCR).
  • Performed HiFi sequencing on size-matched case-control pairs for detailed sequence analysis.
  • Conducted gene-burden analysis of HSF1 using whole-genome sequencing data (n=5147).

Main Results:

  • No significant difference in HSF1 VNTR length distribution or association with ET was found between cases and controls.
  • Identified two core VNTR motifs but no significant case-control differences in fine-scale sequence composition.
  • Gene-burden analysis revealed no enrichment of rare damaging coding variants in ET patients.

Conclusions:

  • The study's findings do not support HSF1 VNTR expansions as a major risk factor for essential tremor.
  • Rare damaging coding variants in HSF1 are also unlikely to be major contributors to ET risk.