# Alzheimer’s 2030: From Precision Genomics to Artificial Intelligence

**Authors:** Valeria D’Argenio, Rossella Tomaiuolo, Silvia Bargeri, Giulia Sancesario

PMC · DOI: 10.3390/genes17020233 · 2026-02-12

## TL;DR

This paper reviews how precision genomics and AI can improve Alzheimer's prevention, focusing on genetic and gender factors.

## Contribution

The paper emphasizes integrating genetic risk scores and AI with sex and gender considerations for precision medicine in Alzheimer's.

## Key findings

- Genetic factors contribute significantly to sporadic late-onset Alzheimer's disease.
- Women are disproportionately affected due to biological and sociocultural factors.
- AI and genetic risk scores offer potential for personalized prevention strategies.

## Abstract

Alzheimer’s disease (AD) represents a critical global health challenge, with its prevalence and associated costs expected to double significantly by 2030 and 2050. While lifestyle interventions are crucial, sporadic late-onset AD has a substantial genetic component (40–80% heritability), though known variants limit the scope of traditional precision medicine. Crucially, sex and gender are significant risk determinants, with women accounting for two-thirds of cases due to a complex interplay of biological and sociocultural factors. This review focuses on the influence of genetic and gender-related factors, examining large-scale genome-wide association studies (GWASs) and their role in developing advanced genetic risk scores (GRS) for precision genomics. We also explore the potential of Artificial Intelligence (AI) for multimodal big data analysis and digital health tools to promote personalized prevention and emerging concerns about ethics, privacy and data treatment. The convergence of these findings underscores the urgent need for a genetic-, sex- and gender-informed precision-medicine approach to AD.

## Linked entities

- **Diseases:** Alzheimer's disease (MONDO:0004975)

## Full-text entities

- **Genes:** AR (androgen receptor) [NCBI Gene 367] {aka AIS, AR8, DHTR, HPCX3, HUMARA, HYSP1}, APP (amyloid beta precursor protein) [NCBI Gene 351] {aka AAA, ABETA, ABPP, AD1, APPI, CTFgamma}, MAPT (microtubule associated protein tau) [NCBI Gene 4137] {aka DDPAC, FTD1, FTDP-17, MAPTL, MSTD, MTBT1}, NEFL (neurofilament light chain) [NCBI Gene 4747] {aka CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL}, PICALM (phosphatidylinositol binding clathrin assembly protein) [NCBI Gene 8301] {aka CALM, CLTH, LAP}, PSEN2 (presenilin 2) [NCBI Gene 5664] {aka AD3L, AD4, CMD1V, PS2, STM2}, APOE (apolipoprotein E) [NCBI Gene 348] {aka AD2, APO-E, ApoE4, LDLCQ5, LPG}, GFAP (glial fibrillary acidic protein) [NCBI Gene 2670] {aka ALXDRD}, CLU (clusterin) [NCBI Gene 1191] {aka AAG4, APO-J, APOJ, CLI, CLU1, CLU2}, BIN1 (bridging integrator 1) [NCBI Gene 274] {aka AMPH2, AMPHL, CNM2, SH3P9}, LILRA5 (leukocyte immunoglobulin like receptor A5) [NCBI Gene 353514] {aka CD85, CD85F, ILT-11, ILT11, LILRB7, LIR-9}, HLA-A (major histocompatibility complex, class I, A) [NCBI Gene 3105] {aka HLAA}, TREM2 (triggering receptor expressed on myeloid cells 2) [NCBI Gene 54209] {aka AD17, PLOSL2, TREM-2, Trem2a, Trem2b, Trem2c}, ITGAM (integrin subunit alpha M) [NCBI Gene 3684] {aka CD11B, CR3A, HNA-4, MAC-1, MAC1A, MO1A}, WWOX (WW domain containing oxidoreductase) [NCBI Gene 51741] {aka D16S432E, DEE28, EIEE28, FOR, FRA16D, HHCMA56}, PSEN1 (presenilin 1) [NCBI Gene 5663] {aka ACNINV3, AD3, CMD1U, FAD, PS-1, PS1}, AP2B1 (adaptor related protein complex 2 subunit beta 1) [NCBI Gene 163] {aka ADTB2, AP105B, AP2-BETA, CLAPB1}, ADAMTS1 (ADAM metallopeptidase with thrombospondin type 1 motif 1) [NCBI Gene 9510] {aka C3-C5, METH1}, ADAM10 (ADAM metallopeptidase domain 10) [NCBI Gene 102] {aka AD10, AD18, CD156c, CDw156, HsT18717, MADM}
- **Diseases:** sleep disruption (MESH:D019958), neuroinflammation (MESH:D000090862), MCI (MESH:D060825), AD (MESH:D000544), irritability (MESH:D001523), diabetes (MESH:D003920), tumors (MESH:D009369), sleep (MESH:D012893), head trauma (MESH:D006259), neuropathological alterations (MESH:D004408), PD (MESH:D010300), mitochondrial dysfunction (MESH:D028361), injury to (MESH:D014947), neurodegeneration (MESH:D019636), inflammatory (MESH:D007249), metabolic (MESH:D008659), AI (MESH:C538142), obesity (MESH:D009765), hearing and vision loss (MESH:D054062), hypertension (MESH:D006973), Cognitive Impairment and Disability (MESH:D003072), episodic memory deficits (MESH:D008569), synaptic dysfunction (MESH:C536122), disinhibition (MESH:D057180), ARIA (MESH:C564543), visuospatial impairment (MESH:D000377), amyloid (MESH:C000718787), Dementia (MESH:D003704), depression (MESH:D003866)
- **Chemicals:** cholesterol (MESH:D002784), testosterone (MESH:D013739), omega-3-bearing (-), alcohol (MESH:D000438), Lipid (MESH:D008055)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Figures

1 figure with captions in the complete paper: https://tomesphere.com/paper/PMC12940287/full.md

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Source: https://tomesphere.com/paper/PMC12940287