Blar i Fakultet for medisin og helsevitenskap (MH) på tidsskrift "Human Molecular Genetics"
Viser treff 1-8 av 8
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Detailed stratified GWAS analysis for severe COVID-19 in four European populations
(Peer reviewed; Journal article, 2022)Given the highly variable clinical phenotype of Coronavirus disease 2019 (COVID-19), a deeper analysis of the host genetic contribution to severe COVID-19 is important to improve our understanding of underlying disease ... -
Genome-wide association study of cardiac troponin i in the general population
(Peer reviewed; Journal article, 2021)Circulating cardiac troponin proteins are associated with structural heart disease and predict incident cardiovascular disease in the general population. However, the genetic contribution to cardiac troponin I (cTnI) ... -
Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls
(Journal article; Peer reviewed, 2012) -
Multi-ancestry genome-wide association study of gestational diabetes mellitus highlights genetic links with type 2 diabetes
(Peer reviewed; Journal article, 2022)Gestational diabetes mellitus (GDM) is associated with increased risk of pregnancy complications and adverse perinatal outcomes. GDM often reoccurs and is associated with increased risk of subsequent diagnosis of type 2 ... -
Novel UCHL1 mutations reveal new insights into ubiquitin processing
(Journal article; Peer reviewed, 2017)Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 has been implicated in early-onset progressive neurodegeneration (MIM no. 615491), so far only in one family. In this study a second family is characterized, ... -
Separating the genetics of childhood and adult obesity: a validation study of genetic scores for body mass index in adolescence and adulthood in the HUNT Study
(Peer reviewed; Journal article, 2020)From a life-course perspective, genetic and environmental factors driving childhood obesity may have a lasting inf luence on health later in life. However, how obesity trajectories vary throughout the life-course remains ... -
Thyroid function, pernicious anemia and erythropoiesis: a two-sample Mendelian randomization study
(Peer reviewed; Journal article, 2022)Autoimmune thyroid disease (AITD) and pernicious anemia (PA) often coexist, but the directionality is unknown. In a two-sample Mendelian randomization (MR) analysis, using summary statistics from large genome-wide association ... -
Within family Mendelian randomization studies
(Peer reviewed; Journal article, 2019)Mendelian randomization (MR) is increasingly used to make causal inferences in a wide range of fields, from drug development to etiologic studies. Causal inference in MR is possible because of the process of genetic ...