@article {9909, title = {Whole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease.}, journal = {Neurol Genet}, volume = {11}, year = {2025}, month = {2025 Apr}, pages = {e200241}, abstract = {

BACKGROUND AND OBJECTIVES: Investigation into different allelic variants may yield new associative genes to predict late-onset Alzheimer disease (LOAD). Variable number tandem repeats (VNTRs) are important polymorphic components of the genome; however, they have been previously overlooked because of their complex genotyping. New software can now determine differing lengths of VNTRs; however, this has not been tested in a large case-control population.

METHODS: We used VNTRseek to genotype over 200,000 tandem repeats in 9,501 cases and controls from the Alzheimer{\textquoteright}s Disease Sequencing Project. We first identified limiting factors of this analysis and then examined the association of VNTRs with AD diagnosis in a subset of non-Hispanic White participants.

RESULTS: We found that VNTRs were highly associated with areas of the genome with a high number of previously identified variants. From our case-control analysis, we identified 9 VNTRs with a repeat allele length associated with LOAD including VNTRs on DSC3, NR2E3, CCNY, PKP4, GRAP, and MAP6.

DISCUSSION: We were able to show the feasibility of this new type of analysis in large-scale whole-genome sequencing data and identify promising VNTRs that are associated with LOAD.

}, issn = {2376-7839}, doi = {10.1212/NXG.0000000000200241}, author = {Heath, Alesha and McNerney, M Windy and Yesavage, Jerome} }