ArticleNature communications2025
Polygenic burden of short tandem repeat expansions promotes risk for Alzheimer's disease.
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Article in Nature communications, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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18citing papers in PubMed
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Who cites it
18 citing papers in PubMed.
- Tandem repeat polymorphisms are associated with brain structure: results of two large population-based studies.Genome medicine · 2026Article
- GWAS on short tandem repeats identifies genetic mechanisms in Alzheimer's disease.Nature communications · 2026Article
- Tandem repeats in human brain evolution and disease susceptibility.Molecules and cells · 2026Review
- Short tandem repeats significantly contribute to the genetic architecture of metabolic and sensory age-related hearing loss phenotypes.medRxiv : the preprint server for health sciences · 2026Article
- Predicting disease-specific histone modifications and functional effects of non-coding variants by leveraging DNA language models.Genome biology · 2026Article
- Alzheimer's disease: genetic background in the era of next-generation sequencing technologies.Brain communications · 2026Review
- Genome-wide Characterization of Non-shared Sequences among Amphora-shaped Giant Viruses.Microbes and environments · 2026Article
- PolyGR-containing aggregates link with pathology and clinical features of Alzheimer's disease.Acta neuropathologica · 2025Article
- Review
- Short tandem repeats in populations of the Qinghai-Tibet Plateau and adjacent regions provide insights into high-altitude adaptation.Science advances · 2025Article
- Persistent chromatin loops shape gene expression plasticity upon stimulation and restimulation of human neurons.bioRxiv : the preprint server for biology · 2025Article
- Learning induces persistent chromatin loops underlying robust gene expression during memory recall.bioRxiv : the preprint server for biology · 2025Article
- Accurate detection of tandem repeats exposes ubiquitous reuse of biological sequences.Nucleic acids research · 2025Article
- Emerging drivers of DNA repeat expansions.Biochemical Society transactions · 2025Review
- Whole-genome sequencing analyses suggest novel genetic factors associated with Alzheimer's disease and a cumulative effects model for risk liability.Nature communications · 2025Article
- Review
- Polygenic burden of short tandem repeat expansions promotes risk for Alzheimer's disease.Nature communications · 2025Article
- Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT andGenome research · 2024Article
Corrections and comments
- Update of
Authors and funding
5 authors.
Michael H GuoDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA. michael.guo@pennmedicine.upenn.edu.ORCID http://orcid.org/0000-0002-1357-6389
Wan-Ping LeeDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.ORCID http://orcid.org/0000-0002-5305-1181
Badri VardarajanDepartment of Neurology, College of Physicians and Surgeons, Columbia University, New York, USA.ORCID http://orcid.org/0000-0002-5560-4085
Gerard D SchellenbergDepartment of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.
Jennifer E Phillips-CreminsDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA. jcremins@seas.upenn.edu.ORCID http://orcid.org/0000-0002-4702-0450
Funding
Large Scale Sequencing and Analysis of GenomesU54HG003067 · NHGRI · MASSACHUSETTS INSTITUTE OF TECHNOLOGY · PI GABRIEL, STACEY, LANDER, ERIC S · 2004 to 2015
$568.6MLarge Scale Genome SequencingU54HG003079 · NHGRI · WASHINGTON UNIVERSITY · PI DUTCHER, SUSAN K · 2004 to 2016
$445.7MThe Human Genome Sequencing CenterU54HG003273 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2004 to 2015
$341.3MProject 1U19AG024904 · NIA · NORTHERN CALIFORNIA INSTITUTE/RES/EDU · PI ARTHUR W TOGA · 2016 to 2026
$226.7MNational Centralized Repository for Alzheimer's Disease and Related Dementias (NCRAD)U24AG021886 · NIA · INDIANA UNIV-PURDUE UNIV AT INDIANAPOLIS · PI TATIANA M. FOROUD · 2002 to 2026
$119.8MVCID and Stroke in a Bi-racial National CohortU01NS041588 · NINDS · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI CUSHMAN, MARY, HOWARD, GEORGE · 2002 to 2022
$96.0MTranslational pharmacoepidemiology: neuroprotection and neurotoxicity of antihypertensives and strong anticholinergicsU19AG066567 · NIA · KAISER FOUNDATION RESEARCH INSTITUTE · PI Christine L MacDonald · 2021 to 2026
$80.4MARIC Neurocognitive Study (ARIC-NCS) Renewal 2023-2028U01HL096812 · NHLBI · NEW YORK UNIVERSITY SCHOOL OF MEDICINE · PI JOSEF CORESH, THOMAS H MOSLEY · 2010 to 2026
$65.7MAlzheimer's Disease Genetics ConsortiumU01AG032984 · NIA · UNIVERSITY OF PENNSYLVANIA · PI SCHELLENBERG, GERARD DAVID · 2009 to 2024
$60.4MTHERAPEUTIC EFFECTS OF INTRA-NASAL INSULIN DETEMIRP50AG005136 · NIA · UNIVERSITY OF WASHINGTON · PI GRABOWSKI, THOMAS J. · 1985 to 2019
$57.2MSUPPLEMENT TO RUSH ALZHEIMERS DISEASE CENTER COREP30AG010161 · NIA · RUSH UNIVERSITY MEDICAL CENTER · PI BENNETT, DAVID ALAN · 1991 to 2020
$49.1MNational Alzheimer's Coordinating CenterU24AG072122 · NIA · UNIVERSITY OF WASHINGTON · PI STEPHENS, KARI A · 2021 to 2025
$45.8MNational Science Foundation (NSF) CBE-1943945National Science Foundation (NSF) EFMA1933400NCRR NIH HHS KL2 RR024151NHGRI NIH HHS RC2 HG005605NHGRI NIH HHS U54 HG003067NHGRI NIH HHS U54 HG003079NHGRI NIH HHS U54 HG003273NHLBI NIH HHS HHSN268200800007CNHLBI NIH HHS HHSN268201100005CNHLBI NIH HHS HHSN268201100005GNHLBI NIH HHS HHSN268201100005INHLBI NIH HHS HHSN268201100006CNHLBI NIH HHS HHSN268201100007CNHLBI NIH HHS HHSN268201100007INHLBI NIH HHS HHSN268201100008CNHLBI NIH HHS HHSN268201100008INHLBI NIH HHS HHSN268201100009CNHLBI NIH HHS HHSN268201100009INHLBI NIH HHS HHSN268201100010CNHLBI NIH HHS HHSN268201100011CNHLBI NIH HHS HHSN268201100011INHLBI NIH HHS HHSN268201100012CNHLBI NIH HHS HHSN268201200036CNHLBI NIH HHS HHSN268201500001CNHLBI NIH HHS HHSN268201500001INHLBI NIH HHS N01 HC025195NHLBI NIH HHS N01 HC055222NHLBI NIH HHS N01 HC085079NHLBI NIH HHS N01 HC085080NHLBI NIH HHS N01 HC085081NHLBI NIH HHS N01 HC085082NHLBI NIH HHS N01 HC085083NHLBI NIH HHS N01 HC085086NHLBI NIH 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Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) P30-AG072979U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) RF1-AG074328U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) U24-AG041689U.S. Department of Health & Human Services | NIH | National Institute on Aging (U.S. National Institute on Aging) U54-AG052427Wellcome Trust
Abstract
Studies of the genetics of Alzheimer's disease (AD) have largely focused on single nucleotide variants and short insertions/deletions. However, most of the disease heritability has yet to be uncovered, suggesting that there is substantial genetic risk conferred by other forms of genetic variation. There are over one million short tandem repeats (STRs) in the genome, and their link to AD risk has not been assessed. As pathogenic expansions of STR cause over 30 neurologic diseases, it is important to ascertain whether STRs may also be implicated in AD risk. Here, we genotype 312,731 polymorphic STR tracts genome-wide using PCR-free whole genome sequencing data from 2981 individuals (1489 AD case and 1492 control individuals). We implement an approach to identify STR expansions as STRs with tract lengths that are outliers from the population. We then test for differences in aggregate burden of expansions in case versus control individuals. AD patients harbor a 1.19-fold increase of STR expansions compared to healthy elderly controls (p = 8.27×10
Indexed as
Alzheimer DiseaseDNA Repeat ExpansionGenetic Predisposition to DiseaseMicrosatellite RepeatsMultifactorial InheritanceAgedAged, 80 and overCase-Control StudiesFemaleGenome-Wide Association StudyGenotypeHumansMaleWhole Genome Sequencing
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