Arto Lehistö
A5057953008- Genetic Associations and Epidemiology
- BRCA gene mutations in cancer
- Bioinformatics and Genomic Networks
- Lipid metabolism and biosynthesis
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Acute Myeloid Leukemia Research
- Endoplasmic Reticulum Stress and Disease
- Machine Learning in Healthcare
- Retinal Diseases and Treatments
- Genomics and Rare Diseases
- Glaucoma and retinal disorders
- Pregnancy and preeclampsia studies
- IL-33, ST2, and ILC Pathways
- Genetic Mapping and Diversity in Plants and Animals
- Pulmonary Hypertension Research and Treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Gene expression and cancer classification
- Health, Environment, Cognitive Aging
- Nuclear Receptors and Signaling
- Cardiovascular Issues in Pregnancy
- Biomedical Text Mining and Ontologies
- Neurological Complications and Syndromes
- Uterine Myomas and Treatments
- Dementia and Cognitive Impairment Research
- Dupuytren's Contracture and Treatments
Institute for Molecular Medicine Finland
2019-2024
University of Helsinki
2019-2024
Columbia University
2023
Abstract Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These survived the founding bottleneck rather than being distributed over large ultrarare variants. Although this effect is well established Mendelian genetics, its value common disease genetics less explored 1,2 . FinnGen aims to study genome and national health register data...
ABSTRACT Population isolates such as Finland provide benefits in genetic studies because the allelic spectrum of damaging alleles any gene is often concentrated on a small number low-frequency variants (0.1% ≤ minor allele frequency < 5%), which survived founding bottleneck, opposed to being distributed over much larger ultra--rare variants. While this advantage well-- established Mendelian genetics, its value common disease genetics has been less explored. FinnGen aims study genome and...
Abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses 141 species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10 −8 ), 10 which associate risk including five new loci- COL5A1 , GLTPD2 SPTLC3 MBOAT7 GALNT16 (false...
Abstract Little is known about the genetic determinants of medication use in preventing cardiometabolic diseases. Using Finnish nationwide drug purchase registry with follow-up since 1995, we performed genome-wide association analyses longitudinal patterns hyperlipidemia, hypertension and type 2 diabetes up to 193,933 individuals (55% women) FinnGen study. In meta-analyses 567,671 combining Estonian Biobank UK Biobank, discovered 333 independent loci ( P < 5 × 10 –9 ) associated use....
Abstract The research of rare and devastating orphan diseases such as Idiopathic Pulmonary Fibrosis (IPF) has been limited by the rarity disease itself. prognosis is poor – prevalence IPF only ∼4-times incidence condition, limiting recruitment patients to trials studies underlying biology disease. However, global biobanking efforts can dramatically alter future research. Here we describe largest meta-analysis IPF, with 8,492 1,355,819 population controls from 13 biobanks around globe....
Successful development of novel therapies requires that clinical trials are conducted in patient cohorts with the highest benefit-to-risk ratio. Population-based biobanks comprehensive health and genetic data from large numbers individuals hold promise to facilitate identification trial participants, particularly when interventions need start while symptoms still mild, such as for Alzheimer's disease (AD). This study describes a process recall studies FinnGen. We demonstrate feasibility...