Browsing St. Olavs hospital by Journals "Nature Communications"
Now showing items 1-14 of 14
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Avoiding dynastic, assortative mating, and population stratification biases in Mendelian randomization through within-family analyses
(Peer reviewed; Journal article, 2020)Estimates from Mendelian randomization studies of unrelated individuals can be biased due to uncontrolled confounding from familial effects. Here we describe methods for within-family Mendelian randomization analyses and ... -
Common variants in Alzheimer’s disease and risk stratification by polygenic risk scores
(Peer reviewed; Journal article, 2021)Genetic discoveries of Alzheimer’s disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical ... -
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
(Peer reviewed; Journal article, 2020)The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition and management of this group of at risk individuals. Here we ... -
Discovery and prioritization of variants and genes for kidney function in >1.2 million individuals
(Journal article; Peer reviewed, 2021)Genes underneath signals from genome-wide association studies (GWAS) for kidney function are promising targets for functional studies, but prioritizing variants and genes is challenging. By GWAS meta-analysis for ... -
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
(Peer reviewed; Journal article, 2023)Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery ... -
Genome-wide association meta-analysis identifies 29 new acne susceptibility loci
(Peer reviewed; Journal article, 2022)Acne vulgaris is a highly heritable skin disorder that primarily impacts facial skin. Severely inflamed lesions may leave permanent scars that have been associated with long-term psychosocial consequences. Here, we perform ... -
GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility
(Peer reviewed; Journal article, 2021)Autoimmune Addison’s disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first ... -
GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer
(Peer reviewed; Journal article, 2020)Thyroid stimulating hormone (TSH) is critical for normal development and metabolism. To better understand the genetic contribution to TSH levels, we conduct a GWAS meta-analysis at 22.4 million genetic markers in up to ... -
Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease
(Peer reviewed; Journal article, 2020)Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without these adverse ... -
Mendelian randomization study of maternal influences on birthweight and future cardiometabolic risk in the HUNT cohort
(Peer reviewed; Journal article, 2020)There is a robust observational relationship between lower birthweight and higher risk of cardiometabolic disease in later life. The Developmental Origins of Health and Disease (DOHaD) hypothesis posits that adverse ... -
MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk
(Peer reviewed; Journal article, 2020)A major challenge in genetic association studies is that most associated variants fall in the non-coding part of the human genome. We searched for variants associated with bone mineral density (BMD) after enriching the ... -
Plasma brain-derived tau is an amyloid-associated neurodegeneration biomarker in Alzheimer’s disease
(Journal article; Peer reviewed, 2024)Staging amyloid-beta (Aβ) pathophysiology according to the intensity of neurodegeneration could identify individuals at risk for cognitive decline in Alzheimer’s disease (AD). In blood, phosphorylated tau (p-tau) associates ... -
Serum metabolome associated with severity of acute traumatic brain injury
(Peer reviewed; Journal article, 2022)Complex metabolic disruption is a crucial aspect of the pathophysiology of traumatic brain injury (TBI). Associations between this and systemic metabolism and their potential prognostic value are poorly understood. Here, ... -
X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements
(Peer reviewed; Journal article, 2024)X-chromosomal genetic variants are understudied but can yield valuable insights into sexually dimorphic human traits and diseases. We performed a sex-stratified cross-ancestry X-chromosome-wide association meta-analysis ...