Genetic and environmental determinants of diastolic heart function
Diastole is the sequence of physiological events that occur in the heart during ventricular
filling and principally depends on myocardial relaxation and chamber stiffness. Abnormal …
filling and principally depends on myocardial relaxation and chamber stiffness. Abnormal …
Genetic susceptibility, homocysteine levels, and risk of all-cause and cause-specific mortality: A prospective cohort study
T Mo, P Long, Y Wang, R Peng, R Niu, Q Wang… - Clinica Chimica …, 2023 - Elsevier
Background The associations of homocysteine (Hcy) and gene-Hcy interactions with the risk
of all-cause and cause-specific mortality remain unclear. Methods A total of 19,826 middle …
of all-cause and cause-specific mortality remain unclear. Methods A total of 19,826 middle …
Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation
Inflammatory and infectious upper respiratory diseases (ICD-10: J30-J39), such as diseases
of the sinonasal tract, pharynx and larynx, are growing health problems yet their genomic …
of the sinonasal tract, pharynx and larynx, are growing health problems yet their genomic …
GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer
Genome-wide association studies (GWAS) have successfully identified associations for
cervical cancer, but the underlying mechanisms of cervical biology and pathology remain …
cervical cancer, but the underlying mechanisms of cervical biology and pathology remain …
European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation
A Budu-Aggrey, A Kilanowski, MK Sobczyk… - Nature …, 2023 - nature.com
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 …
association studies (GWAS) have identified 71 associated loci. In the current study we …
xQTLbiolinks: a comprehensive and scalable tool for integrative analysis of molecular QTLs
Genome-wide association studies (GWAS) have identified thousands of disease-associated
non-coding variants, posing urgent needs for functional interpretation. Molecular …
non-coding variants, posing urgent needs for functional interpretation. Molecular …
Will GWAS eventually allow the identification of genomic biomarkers for COVID-19 severity and mortality?
VL Colona, M Biancolella, A Novelli… - The Journal of clinical …, 2021 - Am Soc Clin Investig
GWAS involve testing genetic variants across the genomes of many individuals to identify
genotype-phenotype associations. GWAS have enabled the identification of numerous …
genotype-phenotype associations. GWAS have enabled the identification of numerous …
Immune-response 3′ UTR alternative polyadenylation quantitative trait loci contribute to variation in human complex traits and diseases
Genome-wide association studies (GWASs) have identified thousands of non-coding
variants that are associated with human complex traits and diseases. The analysis of such …
variants that are associated with human complex traits and diseases. The analysis of such …
Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure
Otosclerosis is one of the most common causes of conductive hearing loss, affecting 0.3% of
the population. It typically presents in adulthood and half of the patients have a positive …
the population. It typically presents in adulthood and half of the patients have a positive …
Prioritizing autoimmunity risk variants for functional analyses by fine-mapping mutations under natural selection
V Pankratov, M Yunusbaeva, S Ryakhovsky… - Nature …, 2022 - nature.com
Pathogen-driven selection shaped adaptive mutations in immunity genes, including those
contributing to inflammatory disorders. Functional characterization of such adaptive variants …
contributing to inflammatory disorders. Functional characterization of such adaptive variants …