Aarno Palotie

Aug 8, 2024 | nature.com | M. Austin Argentieri |Derrick Bennett |Ashwag Albukhari |Jun Lv |Iona Y. Millwood |Hannah Fry | +6 more

AbstractCirculating plasma proteins play key roles in human health and can potentially be used to measure biological age, allowing risk prediction for age-related diseases, multimorbidity and mortality. Here we developed a proteomic age clock in the UK Biobank (n = 45,441) using a proteomic platform comprising 2,897 plasma proteins and explored its utility to predict major disease morbidity and mortality in diverse populations.

Jun 12, 2024 | nature.com | Aoxing Liu |Giulio Genovese |Yajie Zhao |Matti Pirinen |Xiaoxi Liu |Bryan R. Gorman | +15 more

AbstractMosaic loss of the X chromosome (mLOX) is the most common clonal somatic alteration in leukocytes of female individuals1,2, but little is known about its genetic determinants or phenotypic consequences. Here, to address this, we used data from 883,574 female participants across 8 biobanks; 12% of participants exhibited detectable mLOX in approximately 2% of leukocytes. Female participants with mLOX had an increased risk of myeloid and lymphoid leukaemias.

Mar 10, 2024 | nature.com | Elisa Rahikkala |Veikko Salomaa |Jaana Suvisaari |Jukka Moilanen |Tarjinder Singh |Olli Pietiläinen | +3 more

AbstractIntellectual disability (ID) is a common disorder, yet there is a wide spectrum of impairment from mild to profoundly affected individuals. Mild ID is seen as the low extreme of the general distribution of intelligence, while severe ID is often seen as a monogenic disorder caused by rare, pathogenic, highly penetrant variants.

Jul 18, 2023 | nature.com | Thomas D. Als |Jakob Grove |Georgios Voloudakis |Karen Therrien |Joonas Naamanka |Daniel F Levey | +15 more

AbstractDepression is a common psychiatric disorder and a leading cause of disability worldwide. Here we conducted a genome-wide association study meta-analysis of six datasets, including >1.3 million individuals (371,184 with depression) and identified 243 risk loci. Overall, 64 loci were new, including genes encoding glutamate and GABA receptors, which are targets for antidepressant drugs.

May 25, 2023 | nature.com | Chia-Yen Chen |Max Lam |Tarjinder Singh |Jimmy Liu |Aarno Palotie |Ellen A. Tsai | +4 more

AbstractCompelling evidence suggests that human cognitive function is strongly influenced by genetics. Here, we conduct a large-scale exome study to examine whether rare protein-coding variants impact cognitive function in the adult population (n = 485,930). We identify eight genes (ADGRB2, KDM5B, GIGYF1, ANKRD12, SLC8A1, RC3H2, CACNA1A and BCAS3) that are associated with adult cognitive function through rare coding variants with large effects.