High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study.
Journal
Scientific reports
ISSN: 2045-2322
Titre abrégé: Sci Rep
Pays: England
ID NLM: 101563288
Informations de publication
Date de publication:
17 06 2020
17 06 2020
Historique:
received:
17
12
2019
accepted:
20
05
2020
entrez:
20
6
2020
pubmed:
20
6
2020
medline:
15
12
2020
Statut:
epublish
Résumé
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.
Identifiants
pubmed: 32555394
doi: 10.1038/s41598-020-66643-0
pii: 10.1038/s41598-020-66643-0
pmc: PMC7299994
doi:
Substances chimiques
HTT protein, human
0
Huntingtin Protein
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
9853Références
J Neurol. 1997 Jun;244(6):341-8
pubmed: 9249618
Scand J Public Health Suppl. 2003;61:9-17
pubmed: 14660242
Neurology. 2013 May 28;80(22):2022-7
pubmed: 23624566
J Neurol Neurosurg Psychiatry. 2010 Feb;81(2):228-30
pubmed: 20145031
Neurodegener Dis Manag. 2016 Aug;6(4):331-43
pubmed: 27507223
Scand J Public Health Suppl. 2003;61:18-24
pubmed: 14660243
Tremor Other Hyperkinet Mov (N Y). 2012;2:
pubmed: 23440000
Cell. 1993 Mar 26;72(6):971-83
pubmed: 8458085
Mov Disord. 2007 Jan;22(1):127-30
pubmed: 17115386
Handb Clin Neurol. 2017;144:31-46
pubmed: 28947124
Neurology. 2016 Aug 09;87(6):571-8
pubmed: 27402890
Transl Psychiatry. 2017 Dec 11;7(12):1277
pubmed: 29225330
Clin Genet. 2006 Oct;70(4):283-94
pubmed: 16965319
Glob Health Action. 2010 Mar 22;3:
pubmed: 20339479
Acta Neurol Scand. 2017 Nov;136(5):511-515
pubmed: 28393354
Am J Med Genet B Neuropsychiatr Genet. 2018 Apr;177(3):346-357
pubmed: 29460498
Lancet Neurol. 2017 Jan;16(1):88-96
pubmed: 27979358
Acta Psychiatr Scand Suppl. 1974;255:221-35
pubmed: 4282554
Mov Disord. 2012 Dec;27(14):1714-7
pubmed: 23008174
Hum Mol Genet. 2019 Feb 15;28(4):650-661
pubmed: 30358836
J Neurol Sci. 2019 Jul 15;402:57-61
pubmed: 31103960
Handb Clin Neurol. 2018;147:23-36
pubmed: 29325614
Hum Mol Genet. 2018 May 15;27(10):1723-1731
pubmed: 29509900
J Intern Med. 2011 Feb;269(2):219-31
pubmed: 21158982
Genet Mol Res. 2017 Apr 05;16(2):
pubmed: 28387881
Am J Hum Genet. 2019 Jun 6;104(6):1116-1126
pubmed: 31104771