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Independent Validation and Structural Characterization of Expanded HSF1 Intronic Variable Number Tandem Repeats in

Xiaosheng Zheng1, Yixin Kang1, Hongwei Wu1,2

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Summary

Expanded HSF1 intronic variable number tandem repeats (VNTRs) were not found to be more frequent in essential tremor (ET) patients compared to controls. No distinct sequence features differentiated patients and controls, suggesting VNTRs are not a reliable biomarker for ET.

Keywords:
Essential tremorGenetic associationHSF1Long‐read sequencingVariable number tandem repeats

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Essential tremor (ET) is a common neurological disorder.
  • Previous studies suggested a link between expanded HSF1 intronic variable number tandem repeats (VNTRs) and ET.
  • Independent validation of this association is crucial.

Purpose of the Study:

  • To investigate the association between expanded HSF1 VNTRs and essential tremor.
  • To characterize the sequence composition and interruption patterns of HSF1 VNTRs in ET patients and controls.

Main Methods:

  • Analyzed HSF1 VNTR lengths in 720 ET patients and 507 controls using fluorescence amplicon length analysis.
  • Utilized long-read sequencing (LRS) to determine sequence composition and interruption patterns in expanded VNTRs from a subset of participants.
  • Employed self-organizing map analysis to identify potential clustering differences.

Main Results:

  • Expanded HSF1 VNTRs did not show significantly different frequencies between ET patients and controls at 700 bp (5.9% vs. 4.3%) and 550 bp (13.7% vs. 10.8%) thresholds.
  • LRS refined the HSF1 VNTR motif and revealed identical repeat configurations and interruption patterns (predominantly CC and CCCCG interruptions) in both patient and control groups.
  • No significant clustering differences were observed between ET patients and controls.

Conclusions:

  • Expanded HSF1 VNTRs are not enriched in essential tremor patients.
  • No distinguishing sequence features of HSF1 VNTRs were identified between ET patients and controls.
  • Further large-scale cohort studies are necessary to confirm these findings.