Human leukocyte antigen (
HLA
) genes regulate immune function and influence disease susceptibility, but their role in healthy aging is unclear. We investigated whether disease-associated
HLA
alleles affect the likelihood of becoming a cognitively healthy centenarian (CHC). Using imputed
HLA
genotypes from 36...
D. A. Sirvent, N. Tesi, M. Hulsman et al.· npj Aging· 0 citations
These findings identify haplotype-specific associations with differential proteinopathy burden, illustrating how haplotype-resolved analyses can connect GWAS signals to candidate molecular pathways.
A. Salazar, N. Tesi, S. J. van der Lee et al.· medRxiv· 0 citations
It is demonstrated that downregulation of PLCG2, primarily in neurons, impairs synaptic function and elevates amyloid-β levels and Tau protein phosphorylation in neurons.
Audrey Coulon, F. Rabiller, M. Takalo et al.· Nature Genetics· 0 citations
It is concluded that rare coding CNVs in a proportion of AD-associated genes and 22q11.21 duplication as a strong AD-risk-decreasing factor increase AD risk and Conversely, 22q11.21 duplication as a strong AD-risk-decreasing factor is identified.
O. Quenez, Catherine Schramm, K. Cassinari et al.· American Journal of Human Ge...· 1 citation
Background Genome-wide association studies (GWAS) have identified thousands of loci associated with complex traits and diseases, yet translating these signals into biological insight remains challenging. Most associated variants are non-coding and reside in linkage disequilibrium (LD) blocks, where multiple correlated...
N. Tesi, G. Green, A. Salazar et al.· bioRxiv· 0 citations
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