@article {879, title = {Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project.}, journal = {Mov Disord}, volume = {36}, year = {2021}, month = {2021 02}, pages = {514-518}, abstract = {

BACKGROUND: Spinocerebellar ataxia types 1, 2, 3 and Huntington disease are neurodegenerative disorders caused by expanded CAG repeats.

METHODS: We performed an in-silico analysis of CAG repeats in ATXN1, ATXN2, ATXN3, and HTT using 30{\texttimes} whole-=genome sequencing data of 2504 samples from the 1000 Genomes Project.

RESULTS: Seven HTT-positive, 3 ATXN2-positive, 1 ATXN3-positive, and 6 possibly ATXN1-positive samples were identified. No correlation was found between the repeat sizes of the different genes. The distribution of CAG alleles varied by ethnicity.

CONCLUSION: Our results suggest that there may be asymptomatic small expanded repeats in almost 0.5\% of these populations. {\textcopyright} 2020 International Parkinson and Movement Disorder Society.

}, keywords = {Alleles, Ataxin-1, Ataxin-2, Ataxin-3, Humans, Huntingtin Protein, Huntington Disease, Repressor Proteins, Spinocerebellar Ataxias, Trinucleotide Repeat Expansion, Trinucleotide Repeats}, issn = {1531-8257}, doi = {10.1002/mds.28341}, author = {Ak{\c c}imen, Fulya and Ross, Jay P and Liao, Calwing and Spiegelman, Dan and Dion, Patrick A and Rouleau, Guy A} }