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

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 S...

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Published in:Scientific Reports
Main Authors: Sundblom, Jimmy, Niemelä, Valter, Ghazarian, Maria, Strand, Ann-Sofi, Bergdahl, Ingvar A., Jansson, Jan-Håkan, Söderberg, Stefan, Stattin, Eva-Lena
Format: Text
Language:English
Published: Nature Publishing Group UK 2020
Subjects:
Article
North Sweden
Northern Sweden
Online Access:http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299994/
https://doi.org/10.1038/s41598-020-66643-0
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spelling ftpubmed:oai:pubmedcentral.nih.gov:7299994 2023-05-15T17:40:18+02:00 High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study Sundblom, Jimmy Niemelä, Valter Ghazarian, Maria Strand, Ann-Sofi Bergdahl, Ingvar A. Jansson, Jan-Håkan Söderberg, Stefan Stattin, Eva-Lena 2020-06-17 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299994/ https://doi.org/10.1038/s41598-020-66643-0 en eng Nature Publishing Group UK http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299994/ http://dx.doi.org/10.1038/s41598-020-66643-0 © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/. CC-BY Sci Rep Article Text 2020 ftpubmed https://doi.org/10.1038/s41598-020-66643-0 2020-06-21T00:53:26Z 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. Text North Sweden Northern Sweden PubMed Central (PMC) Scientific Reports 10 1
institution Open Polar
collection PubMed Central (PMC)
op_collection_id ftpubmed
language English
topic Article
spellingShingle Article
Sundblom, Jimmy
Niemelä, Valter
Ghazarian, Maria
Strand, Ann-Sofi
Bergdahl, Ingvar A.
Jansson, Jan-Håkan
Söderberg, Stefan
Stattin, Eva-Lena
High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study
topic_facet Article
description 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.
format Text
author Sundblom, Jimmy
Niemelä, Valter
Ghazarian, Maria
Strand, Ann-Sofi
Bergdahl, Ingvar A.
Jansson, Jan-Håkan
Söderberg, Stefan
Stattin, Eva-Lena
author_facet Sundblom, Jimmy
Niemelä, Valter
Ghazarian, Maria
Strand, Ann-Sofi
Bergdahl, Ingvar A.
Jansson, Jan-Håkan
Söderberg, Stefan
Stattin, Eva-Lena
author_sort Sundblom, Jimmy
title High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study
title_short High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study
title_full High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study
title_fullStr High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study
title_full_unstemmed High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study
title_sort high frequency of intermediary alleles in the htt gene in northern sweden - the swedish huntingtin alleles and phenotype (shape) study
publisher Nature Publishing Group UK
publishDate 2020
url http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299994/
https://doi.org/10.1038/s41598-020-66643-0
genre North Sweden
Northern Sweden
genre_facet North Sweden
Northern Sweden
op_source Sci Rep
op_relation http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7299994/
http://dx.doi.org/10.1038/s41598-020-66643-0
op_rights © The Author(s) 2020
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
op_rightsnorm CC-BY
op_doi https://doi.org/10.1038/s41598-020-66643-0
container_title Scientific Reports
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