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Updated: Feb 25, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

HSF1可変数タンデムリピート伸長およびコーディングバリアントと大規模コホートにおける本態性振戦リスクとの関連解析

Sheng Zeng¹, Yuwen Zhao², Dong Chang³

¹Department of Geriatrics, The Second Xiangya Hospital, Central South University, Changsha, China.

Movement disorders : official journal of the Movement Disorder Society

|February 23, 2026

要旨

Background:

A variable number tandem repeat (VNTR) expansion in HSF1 has recently been linked to essential tremor (ET).

Methods:

We analyzed the VNTR in an existing HiFi cohort (n = 159) and subsequently in an expanded prospective case-control cohort (n = 2121) using fluorescent polymerase chain reaction (PCR). Ten size-matched case-control pairs were newly HiFi-sequenced to further characterize sequence details. A gene-burden analysis of HSF1 used retrospective whole-genome sequencing data (n = 5147).

Results:

Fluorescent PCR genotyping showed no case-control difference in VNTR length distribution (range: 135-847 bp; P = 0.63) and no association with disease status (P = 0.93). HiFi sequencing of existing (n = 159) and new (n = 20) samples identified two core VNTR motifs (13-bp [CCGCNCCGCCTCC]n and 8-bp [CCGCCTCC]n), but no significant case-control differences in fine-scale sequence composition. Gene-burden analysis showed no enrichment of rare damaging coding variants in ET.

Conclusion:

Our data do not support HSF1 VNTR or rare damaging coding variants as major risk factors for ET. © 2026 International Parkinson and Movement Disorder Society.

キーワード:

HSF1 HiFiシーケンシング本態性振戦リスク可変数タンデムリピート

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