Karen Nuytemans

This study uses eHiCA to identify regulatory interactions at the PICALM-EED locus, showing distinct chromatin interactions for SNPs within a segregating haplotype.

The paper identifies an African-origin haplotype that reduces AD risk in APOEε4 carriers by 75% and explores its molecular mechanisms through sequencing and methylation analysis.

The paper shows that ELA-associated increased chromatin accessibility and expression of APOE4 in astrocytes contribute to higher AD risk in APOE4/4 carriers.

The paper identifies differential regulatory control of APOEε4 on African versus European haplotypes through enhancer activity and promoter interactions analyses.

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

The paper finds that APOEϵ4 expression is higher in European ancestry carriers and linked to A1 reactive astrocytes, potentially explaining higher AD risk in this group.