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Biomolecules, Volume 15, Issue 3
March 2025 - 144 articles
Cover Story: In a systematic explorative study of genetic patterns on chromosome 19, we discovered a pattern comprised of 23 single-nucleotide polymorphism (SNP) alleles that is significantly associated with late-onset Alzheimer’s disease (AD). This association was validated using two independent datasets. The pattern includes THOP1, which has a long and disputatious relationship with AD. It also spans SLC39A3 and SGTA and is upstream from DIRAS1. We utilized population data to observe the frequencies of this genetic pattern for 11 different ancestries and noted that it is highly common for Europeans and relatively infrequent for Africans. This research provides a distinct genetic signature for AD risk, as well as insights into the complicated relationship between this disease and THOP1. View this paper
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Biomolecules - ISSN 2218-273X