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Results 71 to 80 of about 81,479 (293)

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui +9 more
wiley +1 more source

Role of circulating polyunsaturated fatty acids on cardiovascular diseases risk: analysis using Mendelian randomization and fatty acid genetic association data from over 114,000 UK Biobank participants

BMC Medicine, 2022
Background Despite early interest in the health effects of polyunsaturated fatty acids (PUFA), there is still substantial controversy and uncertainty on the evidence linking PUFA to cardiovascular diseases (CVDs).
Maria Carolina Borges +7 more
doaj +1 more source

Mendelian randomization in the bone field [PDF]

Bone, 2019
Identification of causative risk factors amenable for modification is essential for the prevention and treatment of osteoporosis. Observational studies have identified associations between several potentially modifiable risk factors and osteoporosis. However, observational studies are susceptible to confounding, reverse causation bias, and measurement ...
Larsson, Susanna C, Michaëlsson, Karl, Burgess, Stephen +2 more
openaire +3 more sources

Challenges in undertaking nonlinear Mendelian randomization

Obesity, 2023
AbstractMendelian randomization (MR) is a widely used method that exploits the unique properties of germline genetic variation to strengthen causal inference in relationships between exposures and outcomes. Nonlinear MR allows estimation of the shape of these relationships.
Kaitlin H. Wade +5 more
openaire +3 more sources

ACLY‐Driven Metabolic Reprogramming Promotes Histone Acetylation and Inflammation‐Associated Fibrosis in Chronic Kidney Disease

Advanced Science, EarlyView.
This study reveals a citrate–ACLY–H3K27ac metabolic–epigenetic axis driving inflammatory gene activation and kidney fibrosis, highlighting ACLY inhibition as a potential therapeutic strategy for chronic kidney disease (CKD). ABSTRACT The mechanisms by which metabolic stress drives epigenetic dysregulation and fibrosis in chronic kidney disease (CKD ...
Chunxiu Du +15 more
wiley +1 more source

Genetic Markers as Instrumental Variables:An Application to Child Fat Mass and Academic Achievement [PDF]

The use of genetic markers as instrumental variables (IV) is receiving increasing attention from economists. This paper examines the conditions that need to be met for genetic variants to be used as instruments.
Carol Propper +4 more
core +3 more sources

Estimating marginal healthcare costs using genetic variants as instrumental variables:Mendelian Randomization in economic evaluation [PDF]

, 2016
Accurate measurement of the marginal healthcare costs associated with different diseases and health conditions is important, especially for increasingly prevalent conditions such as obesity.
Davey Smith, George +4 more
core +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio +16 more
wiley +1 more source

Does ankylosing spondylitis exert a bidirectional influence on hypertension? A two-sample Mendelian randomization study

SAGE Open Medicine
Objective: Previous observational studies reported that ankylosing spondylitis is closely related to hypertension. However, it is still controversial whether the association between ankylosing spondylitis and hypertension is causal.
Weiran Hu +4 more
doaj +1 more source

Are There Causal Associations Between Obsessive‐Compulsive Disorder and Cardiometabolic Phenotypes? A Genetic Correlation and Bi‐Directional Mendelian Randomization Study

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT In epidemiological studies, obsessive‐compulsive disorder (OCD) is robustly associated with increased risk of cardiometabolic disorders, including cardiovascular diseases, type 2 diabetes, and obesity. However, the mechanisms behind these associations are unclear. We conducted genetic correlation analyses to explore shared genetic etiology and
Robyn E. Wootton +217 more
wiley +1 more source

humans
mendelian randomization analysis
3. good health

causality
causal inference
genome-wide association study

genetic variation
risk factors
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