Antti‐Pekka Sarin
- Genetic Associations and Epidemiology
- Genetic and phenotypic traits in livestock
- Adipokines, Inflammation, and Metabolic Diseases
- Genetic factors in colorectal cancer
- Genetic Mapping and Diversity in Plants and Animals
- Cancer-related molecular mechanisms research
- Cancer, Lipids, and Metabolism
- Nutrition, Genetics, and Disease
- Atherosclerosis and Cardiovascular Diseases
- Metabolomics and Mass Spectrometry Studies
- Forensic and Genetic Research
- Inflammatory Bowel Disease
- Smoking Behavior and Cessation
- Epigenetics and DNA Methylation
- Lipoproteins and Cardiovascular Health
- Lipid metabolism and biosynthesis
- Nicotinic Acetylcholine Receptors Study
- RNA modifications and cancer
- Lipid metabolism and disorders
- Diabetes Treatment and Management
- MicroRNA in disease regulation
- Celiac Disease Research and Management
- Liver Disease Diagnosis and Treatment
- Cholesterol and Lipid Metabolism
- Adipose Tissue and Metabolism
University of Helsinki
2011-2020
Institute for Molecular Medicine Finland
2011-2020
VA Palo Alto Health Care System
2020
Finland University
2015-2019
Finnish Institute for Health and Welfare
2011-2019
University of Oulu
2002-2014
Oulu University Hospital
2014
Helsinki Institute for Information Technology
2014
Tampere University
2014
University of Eastern Finland
2014
Genome-wide association studies have identified numerous loci linked with complex diseases, for which the molecular mechanisms remain largely unclear. Comprehensive profiling of circulating metabolites captures highly heritable traits, can help to uncover metabolic pathophysiology underlying established disease variants. We conduct an extended genome-wide study genetic influences on 123 traits quantified by nuclear magnetic resonance metabolomics from up 24,925 individuals and identify eight...
Abstract Colorectal cancer (CRC) is a leading cause of cancer-related death worldwide, and has strong heritable basis. We report genome-wide association analysis 34,627 CRC cases 71,379 controls European ancestry that identifies SNPs at 31 new risk loci. also identify eight independent the previously reported loci, further nine loci only identified in Asian populations. use situ promoter capture Hi-C (CHi-C), gene expression, silico annotation methods to likely target genes SNPs. Whilst...
Individuals with fast nicotine metabolism typically smoke more and thus have a greater risk for smoking-induced diseases. Further, the efficacy of smoking cessation pharmacotherapy is dependent on rate metabolism. Our objective was to use metabolite ratio (NMR), an established biomarker rate, in genome-wide association study (GWAS) identify novel genetic variants influencing A heritability estimate 0.81 (95% CI 0.70–0.88) obtained NMR using monozygotic dizygotic twins FinnTwin cohort. We...
Abstract Coupling dense genotype data with new computational methods offers unprecedented opportunities for individual-level ancestry estimation once geographically precisely defined reference sets become available. We study such a set Finland containing 2376 individuals from the FINRISK Study survey of 1997 both whose parents were born close to each other. This sampling strategy focuses on population structure present in before 1950s. By using recent haplotype-based ChromoPainter (CP) and...
While elevated blood cholesterol has been associated with an increased risk of colorectal cancer (CRC) in observational studies, causality is uncertain. Here we apply a Mendelian randomisation (MR) analysis to examine the potential causal relationship between lipid traits and CRC risk. We used single nucleotide polymorphisms (SNPs) levels total (TC), triglyceride (TG), low‐density lipoprotein (LDL), high‐density (HDL) as instrumental variables (IV). calculated MR estimates for each factor...
Almost 100 genetic loci are known to affect serum cholesterol and triglyceride levels. For many of these loci, the biological function causal variants remain unknown. We performed an association analysis reported 95 lipid against 216 metabolite measures, including measurements on lipids lipoprotein subclasses, obtained via nuclear magnetic resonance metabolomics four enzymatic traits in 8330 individuals from Finland. The variation was investigated using a dense set 440 807 directly genotyped...
Reference panels from the 1000 Genomes (1000G) Project Consortium provide near complete coverage of common and low-frequency genetic variation with minor allele frequency ≥0.5% across European ancestry populations. Within Network for Genetic Genomic Epidemiology (ENGAGE) Consortium, we have undertaken first large-scale meta-analysis genome-wide association studies (GWAS), supplemented by 1000G imputation, four quantitative glycaemic obesity-related traits, in up to 87,048 individuals...
The X chromosome (chrX) represents one potential source for the “missing heritability” complex phenotypes, which thus far has remained underanalyzed in genome-wide association studies (GWAS). Here we demonstrate benefits of including chrX GWAS by assessing contribution 404,862 SNPs to levels twelve commonly studied cardiometabolic and anthropometric traits 19,697 Finnish Swedish individuals with replication data on 5,032 additional Finns. By using a linear mixed model, estimate that average...
Deficiency of USF1 protects against obesity, insulin resistance, and cardiovascular disease in mice humans, induces brown adipose tissue to burn triglycerides glucose.
Journal Article Analysis of Detailed Phenotype Profiles Reveals CHRNA5-CHRNA3-CHRNB4 Gene Cluster Association With Several Nicotine Dependence Traits Get access Ulla Broms, Ph.D., Ph.D. 1Department Public Health, Hjelt Institute, University Helsinki, Finland2Department Mental Health and Substance Abuse Services, National Institute for Welfare, Finland Search other works by this author on: Oxford Academic PubMed Google Scholar Juho Wedenoja, M.D. Finland3Department Chronic Disease Prevention,...
Familial combined hyperlipidemia (FCH) is a complex and common familial dyslipidemia characterized by elevated total cholesterol and/or triglyceride levels with over five-fold risk of coronary heart disease. The genetic architecture contribution rare Mendelian variants to FCH susceptibility unknown. In 53 Finnish families, we genotyped imputed nine million in 715 family members DNA available. We studied the enrichment previously implicated monogenic dyslipidemias lipid general population...
MicroRNAs (miRNAs) control gene expression by reducing mRNA stability and translation. We aimed to identify alterations in human liver miRNA expression/function nonalcoholic fatty disease (NAFLD). Subjects with the highest (median fat 30%, n = 15) lowest (0%, content were selected from >100 obese patients for profiling of biopsies on microarrays carrying probes 1438 miRNAs (a cross-sectional study). Target mRNAs pathways predicted most significantly upregulated NAFLD, their...
Abstract Background Nearly a fifth of the world’s population suffer from migraine headache, yet risk factors for this disease are poorly characterized. Methods To further elucidate these factors, we conducted genetic correlation analysis using cross-trait linkage disequilibrium (LD) score regression between headache and 47 traits UK Biobank. We then tested possible causality phenotypes migraine, Mendelian randomization. In addition, attempted replication our findings in an independent...
Low high-density lipoprotein cholesterol (HDL-C) is associated with cardiometabolic pathologies. In this study, we investigate the biological pathways and individual genes behind low HDL-C by integrating results from 3 high-throughput data sources: adipose tissue transcriptomics, HDL lipidomics, dense marker genotypes Finnish individuals or high (n=450).In pathway analysis of genetic data, demonstrate that variants within inflammatory were enriched among single-nucleotide polymorphisms,...
The current study examined quantitative measures of psychosis proneness in a nonpsychotic population, order to elucidate their underlying genetic architecture and observe if there is any commonality that already detected the studies individuals with overt psychotic conditions, such as schizophrenia bipolar disorder. Heritability, univariate multivariate genome-wide association (GWAs) tests, including series comprehensive gene-based analyses, were developed 4269 persons participating Northern...
A typical genome-wide association study searches for associations between single nucleotide polymorphisms (SNPs) and a univariate phenotype. However, there is growing interest to investigate genomics data multivariate phenotypes, example, in gene expression or metabolomics studies. common approach perform test each genotype-phenotype pair, then apply stringent significance cutoff account the large number of tests performed. this has limited ability uncover dependencies involving multiple...