01794nas a2200169 4500008004100000022001400041245007800055210006900133260001300202300001200215490000700227520129500234100001801529700002001547700002101567856003601588 2025 eng d a2376-783900aWhole Genome Variable Number Tandem Repeat Analysis in Alzheimer Disease.0 aWhole Genome Variable Number Tandem Repeat Analysis in Alzheimer c2025 Apr ae2002410 v113 a

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'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.

1 aHeath, Alesha1 aMcNerney, Windy1 aYesavage, Jerome uhttps://chs-nhlbi.org/node/9909