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

• 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: Article in Journal/Newspaper
• Language: English
• Published: Uppsala universitet, Enblad: Neurokirurgi 2020
• Subjects: Neurosciences; Neurovetenskaper; North Sweden; Northern Sweden
• Online Access: http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-420202; https://doi.org/10.1038/s41598-020-66643-0

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 Vasterbotten 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.