A phenome-wide association study of ABO blood groups [PDF]
Abstract Background ABO blood group is associated with differences in lifespan, cardiovascular disease, and some cancers, for reasons which are incompletely understood. To gain sex-specific additional insight about potential mechanisms driving these common conditions for future interventions, we characterized ...
Shun Li, C. M. Schooling
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Genome-wide association study of hyperthyroidism based on electronic medical record from Taiwan
Excess thyroid hormones have complex metabolic effects, particularly hyperthyroidism, and are associated with various cardiovascular risk factors. Previous candidate gene studies have indicated that genetic variants may contribute to this variable ...
Ting-Yuan Liu +17 more
doaj +1 more source
BackgroundCirculating vitamin D has been associated with multiple clinical diseases in observational studies, but the association was inconsistent due to the presence of confounders.
Jin-jian Xu +5 more
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Profiling phenome-wide associations: a population-based observational study [PDF]
Abstract Objectives To objectively characterize phenome-wide associations observed in the entire Taiwanese population and represent them in a meaningful, interpretable way. Study Design In this population-based observational study, we analyzed 782 million outpatient visits and 15 394 unique phenotypes that were observed in
Shabbir, Syed-Abdul +7 more
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Phenome-wide association study on miRNA-related sequence variants: the UK Biobank
AbstractBackgroundGenetic variants in the coding region could directly affect the structure and expression levels of genes and proteins. However, the importance of variants in the non-coding region, such as microRNAs (miRNAs), remain to be elucidated.
Mustafa, R +4 more
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Unraveling the functional role of the orphan solute carrier, SLC22A24 in the transport of steroid conjugates through metabolomic and genome-wide association studies. [PDF]
Variation in steroid hormone levels has wide implications for health and disease. The genes encoding the proteins involved in steroid disposition represent key determinants of interindividual variation in steroid levels and ultimately, their effects ...
Boerwinkle, Eric +13 more
core +2 more sources
Background Genetics is best dedicated to interpreting pathogenesis and revealing gene functions. The past decade has witnessed unprecedented progress in genetics, particularly in genome‐wide identification of disorder variants through Genome‐Wide ...
Yuan Quan +4 more
doaj +1 more source
Genome-wide association study identifies common and low-frequency variants at the AMHgene locus that strongly predict serum AMH levels in males [PDF]
Anti-Müllerian hormone (AMH) is an essential messenger of sexual differentiation in the foetus and is an emerging biomarker of postnatal reproductive function in females.
Day, Felix R. +5 more
core +1 more source
Psychiatric genetics and the structure of psychopathology [PDF]
For over a century, psychiatric disorders have been defined by expert opinion and clinical observation. The modern DSM has relied on a consensus of experts to define categorical syndromes based on clusters of symptoms and signs, and, to some extent ...
Andreassen, Ole A. +5 more
core +1 more source
Allergy-specific Phenome-Wide Association Study for Immunogenes in Turkish Children [PDF]
AbstractTo dissect the role of immunogenetics in allergy and asthma, we performed a phenome-wide association study in 974 Turkish children selected from a cross-sectional study conducted using ISAAC (International Study of Asthma and Allergies in Children) Phase II tools.
Karaca, Sefayet +7 more
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