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High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study. | LitMetric
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High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study.

Jimmy Sundblom Valter Niemelä Maria Ghazarian Ann-Sofi Strand Ingvar A Bergdahl Jan-Håkan Jansson Stefan Söderberg Eva-Lena Stattin

Sci Rep

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Published: June 2020

AI Article Synopsis

  • Trinucleotide (CAG) repeat expansions longer than 39 in the huntingtin (HTT) gene are responsible for causing Huntington's disease (HD).
  • The SHAPE study analyzed 8,260 individuals from northern Sweden to assess the prevalence of these repeat expansions, specifically focusing on intermediate alleles (lengths of 27-35).
  • The findings revealed a high frequency of intermediate alleles at 6.8% and identified individuals with very low repeat numbers (<5), indicating a potential higher incidence of HD in northern Sweden and prompting further research on the impact of intermediate alleles on traits beyond HD.

Article Abstract

Trinucleotide (CAG) repeat expansions longer than 39 in the huntingtin (HTT) gene cause Huntington's disease (HD). The frequency of intermediate alleles (IA) with a length of 27-35 in the general population is not fully known, but studied in specific materials connected to the incidence of HD. The Swedish Huntingtin Alleles and Phenotype (SHAPE) study aims to assess the frequency of trinucleotide repeat expansions in the HTT gene in north Sweden. 8260 individuals unselected for HD from the counties of Norr- and Västerbotten in the north of Sweden were included. DNA samples were obtained and analysis of the HTT gene was performed, yielding data on HTT gene expansion length in 7379 individuals. A high frequency of intermediate alleles, 6.8%, was seen. Also, individuals with repeat numbers lower than ever previously reported (<5) were found. These results suggest a high frequency of HD in the norther parts of Sweden. Subsequent analyses may elucidate the influence of IA:s on traits other than HD.

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 Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299994PMC
http://dx.doi.org/10.1038/s41598-020-66643-0DOI Listing

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