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Haplotype analysis encompassing HTT gene in Chinese patients with Huntington's disease

X-Y Li1, H-L Li1, Y Dong1

  • 1Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.

European Journal of Neurology
|August 25, 2019
PubMed

Insights

This study investigated Huntington's disease (HD) haplotypes in China, finding a novel haplogroup enriched in Chinese HD patients. This discovery aids in understanding the disease's low prevalence and genetic diversity in the region.

Area of Science:

  • Genetics
  • Neurodegenerative Disorders
  • Population Studies

Background:

  • Huntington's disease (HD) is a dominantly inherited neurodegenerative disorder.
  • HD prevalence varies across populations, potentially linked to specific haplotypes.
  • The genetic factors influencing HD in the Chinese population remain underexplored.

Purpose of the Study:

  • To investigate haplotypes of the HTT gene in the Chinese population.
  • To identify genetic variations associated with Huntington's disease in China.
  • To contribute to understanding the genetic basis of HD prevalence differences.

Main Methods:

  • Haplotype analysis of the HTT gene was performed.
  • 29 tag single nucleotide polymorphisms (tSNPs) were genotyped in 406 HD patients and 59 controls.
  • Two-stage analysis was employed, first replicating known haplogroups and then defining new ones.

Main Results:

  • Risk-associated haplogroups found in Caucasian populations were absent in Chinese individuals.
  • A novel haplogroup, designated 'I', was identified and found to be significantly enriched on HD chromosomes (61.4%) compared to control chromosomes (34.4%).
  • Haplogroup distributions between Chinese HD patients and controls differed, with haplogroup I being a key differentiator.

Conclusions:

  • This is the first HTT haplotype analysis in the Chinese population.
  • The identified haplogroup 'I' may contribute to explaining the lower prevalence of HD in China.
  • These findings enhance the understanding of genetic diversity within the HTT gene region.
Abstract

Keywords:
Chinese populationHuntington's diseasehaplotype analysis

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