Marjo-Riitta Järvelin

Jan 15, 2025 | nature.com | Anni Heiskala |Priyanka Choudhary |Rozenn Nedelec |Justiina Ronkainen |Marjo-Riitta Järvelin |Mikko J. Sillanpää

AbstractChildren’s biological age does not always correspond to their chronological age. In the case of BMI trajectories, this can appear as phase variation, which can be seen as shift, stretch, or shrinking between trajectories. With maturation thought of as a process moving towards the final state - adult BMI, we assessed whether children can be divided into latent groups reflecting similar maturational age of BMI.

Nov 20, 2024 | nature.com | Kimberley Burrows |Anni Heiskala |Mathilde Boissel |Yee-Ming Chan |Philippe Froguel |Hakon Hakonarson | +8 more

AbstractGenetic effects on changes in human traits over time are understudied and may have important pathophysiological impact. We propose a framework that enables data quality control, implements mixed models to evaluate trajectories of change in traits, and estimates phenotypes to identify age-varying genetic effects in GWAS.

Mar 6, 2024 | nature.com | Minna K. Karjalainen |Eeva Sliz |Elias Allara |Weihua Zhang |Pekka Jousilahti |Kati Kristiansson | +46 more

AbstractGenome-wide association analyses using high-throughput metabolomics platforms have led to novel insights into the biology of human metabolism1,2,3,4,5,6,7. This detailed knowledge of the genetic determinants of systemic metabolism has been pivotal for uncovering how genetic pathways influence biological mechanisms and complex diseases8,9,10,11.

Jan 6, 2024 | nature.com | Anna Ulrich |John Wharton |Inês Cebola |Marjo-Riitta Järvelin |Karl-Heinz Herzig |Luke Howard | +7 more

AbstractPulmonary arterial hypertension (PAH) is characterised by pulmonary vascular remodelling causing premature death from right heart failure. Established DNA variants influence PAH risk, but susceptibility from epigenetic changes is unknown. We addressed this through epigenome-wide association study (EWAS), testing 865,848 CpG sites for association with PAH in 429 individuals with PAH and 1226 controls.

Oct 5, 2023 | nature.com | Robin Beaumont |Christopher Flatley |Marc Vaudel |JING CHEN |Gunn-Helen Moen |Line Skotte | +52 more

AbstractA well-functioning placenta is essential for fetal and maternal health throughout pregnancy. Using placental weight as a proxy for placental growth, we report genome-wide association analyses in the fetal (n = 65,405), maternal (n = 61,228) and paternal (n = 52,392) genomes, yielding 40 independent association signals. Twenty-six signals are classified as fetal, four maternal and three fetal and maternal. A maternal parent-of-origin effect is seen near KCNQ1.