<i>THOP1</i> Is Entailed in a Genetic Fingerprint Associated with Late-Onset Alzheimer’s Disease

In a systematic explorative study of genetic patterns on chromosome 19, we discovered a pattern comprising 23 SNP alleles that is significantly associated with late-onset Alzheimer’s disease (AD). This association was validated using two independent datasets. The pattern includes <i>thimet oli...

Full description

Saved in:
Bibliographic Details
Main Author: Sharlee Climer
Format: Article
Language:English
Published: MDPI AG 2025-02-01
Series:Biomolecules
Subjects:
Online Access:https://www.mdpi.com/2218-273X/15/3/337
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:In a systematic explorative study of genetic patterns on chromosome 19, we discovered a pattern comprising 23 SNP alleles that is significantly associated with late-onset Alzheimer’s disease (AD). This association was validated using two independent datasets. The pattern includes <i>thimet oligopeptidase</i> (<i>THOP1</i>), which has a long and disputatious relationship with AD. It also spans <i>solute carrier family 39 member 3</i> (<i>SLC39A3</i>) and <i>small glutamine-rich tetratricopeptide repeat co-chaperone alpha</i> (<i>SGTA</i>) and is upstream from <i>DIRAS family GTPase 1</i> (<i>DIRAS1</i>). 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 <i>THOP1</i>.
ISSN:2218-273X