Eur J Endocrinol. 2023 Apr 4;188(4):K17-K23. doi: 10.1093/ejendo/lvad034. ABSTRACT The aim of this study was to describe the course of puberty and hypogonadism in males with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Finnish APECED cohort followed up between 1970 and 2020. Anthropometry, testicular volumes and FSH, LH, and testosterone concentrations…
Author: Henok Karvonen
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
Nat Genet. 2023 Mar;55(3):410-422. doi: 10.1038/s41588-023-01314-0. Epub 2023 Mar 13. ABSTRACT Lung-function impairment underlies chronic obstructive pulmonary disease (COPD) and predicts mortality. In the largest multi-ancestry genome-wide association meta-analysis of lung function to date, comprising 580,869 participants, we identified 1,020 independent association signals implicating 559 genes supported by ≥2 criteria…
OTTERS: a powerful TWAS framework leveraging summary-level reference data
Nat Commun. 2023 Mar 7;14(1):1271. doi: 10.1038/s41467-023-36862-w. ABSTRACT Most existing TWAS tools require individual-level eQTL reference data and thus are not applicable to summary-level reference eQTL datasets. The development of TWAS methods that can harness summary-level reference data is valuable to enable TWAS in broader settings and enhance power due…
Interaction Between Dietary Iron Intake and Genetically Determined Iron Overload: Risk of Islet Autoimmunity and Progression to Type 1 Diabetes in the TEDDY Study
Diabetes Care. 2023 May 1;46(5):1014-1018. doi: 10.2337/dc22-1359. ABSTRACT OBJECTIVE: To examine whether iron intake and genetically determined iron overload interact in predisposing to the development of childhood islet autoimmunity (IA) and type 1 diabetes (T1D). RESEARCH DESIGN AND METHODS: In The Environmental Determinants of Diabetes in the Young (TEDDY) study,…
Senior Health Clinic for 75-year-old home-dwelling Finns – study design, clinic protocol and non-response analysis
BMC Health Serv Res. 2023 Mar 2;23(1):210. doi: 10.1186/s12913-023-09199-9. ABSTRACT BACKGROUND: In the Finnish policy on older people preventive activities, which maintain functional capacity and independent living, are emphasized. The Turku Senior Health Clinic, aimed at maintaining independent coping of all home-dwelling 75-year-old citizens in the city of Turku, was…
Refining the Definition of Stage 1 Type 1 Diabetes: An Ontology-Driven Analysis of the Heterogeneity of Multiple Islet Autoimmunity
Diabetes Care. 2023 Mar 2:dc221960. doi: 10.2337/dc22-1960. Online ahead of print. ABSTRACT OBJECTIVE: To estimate the risk of progression to stage 3 type 1 diabetes based on varying definitions of multiple islet autoantibody positivity (mIA). RESEARCH DESIGN AND METHODS: Type 1 Diabetes Intelligence (T1DI) is a combined prospective data set…
Longitudinal metabolomics of increasing body-mass index and waist-hip ratio reveals two dynamic patterns of obesity pandemic
Int J Obes (Lond). 2023 Jun;47(6):453-462. doi: 10.1038/s41366-023-01281-w. Epub 2023 Feb 23. ABSTRACT BACKGROUND/OBJECTIVE: This observational study dissects the complex temporal associations between body-mass index (BMI), waist-hip ratio (WHR) and circulating metabolomics using a combination of longitudinal and cross-sectional population-based datasets and new systems epidemiology tools. SUBJECTS/METHODS: Firstly, a data-driven…
Uncovering the complex genetic architecture of human plasma lipidome using machine learning methods
Sci Rep. 2023 Feb 22;13(1):3078. doi: 10.1038/s41598-023-30168-z. ABSTRACT Genetic architecture of plasma lipidome provides insights into regulation of lipid metabolism and related diseases. We applied an unsupervised machine learning method, PGMRA, to discover phenotype-genotype many-to-many relations between genotype and plasma lipidome (phenotype) in order to identify the genetic architecture of…
Intake and sources of dietary fibre and dietary fibre fractions in Finnish children
Br J Nutr. 2023 Feb 21:1-11. doi: 10.1017/S0007114523000466. Online ahead of print. ABSTRACT The current definition of dietary fibre was adopted by the Codex Alimentarius Commission in 2009, but implementation requires updating food composition databases with values based on appropriate analysis methods. Previous data on population intakes of dietary fibre…
HLA-DQ-conferred risk for type 1 diabetes does not alter neutralizing antibody response to a widely used enterovirus vaccine, the poliovirus vaccine
J Med Virol. 2023 Apr;95(4):e28707. doi: 10.1002/jmv.28707. ABSTRACT This study investigated whether children with HLA-DQ-conferred risk for type 1 diabetes (T1D) have an altered immune response to the widely-used enterovirus vaccine, namely poliovirus vaccine, and whether initiation of autoimmunity to pancreatic islets modulates this response. Neutralizing antibodies induced by the…
