Genetic and environmental determinants of diastolic heart function

M Thanaj, J Mielke, KA McGurk, W Bai… - Nature cardiovascular …, 2022 - nature.com
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 …

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 …

Inflammatory and infectious upper respiratory diseases associate with 41 genomic loci and type 2 inflammation

EC Saarentaus, J Karjalainen, JT Rämö… - Nature …, 2023 - nature.com
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 …

GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer

M Koel, U Võsa, M Jõeloo, K Läll… - Human Molecular …, 2023 - academic.oup.com
Genome-wide association studies (GWAS) have successfully identified associations for
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 …

xQTLbiolinks: a comprehensive and scalable tool for integrative analysis of molecular QTLs

R Ding, X Zou, Y Qin, L Gong, H Chen… - Briefings in …, 2024 - academic.oup.com
Genome-wide association studies (GWAS) have identified thousands of disease-associated
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 …

Immune-response 3′ UTR alternative polyadenylation quantitative trait loci contribute to variation in human complex traits and diseases

L Li, X Ma, Y Cui, M Rotival, W Chen, X Zou… - Nature …, 2023 - nature.com
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 …

Genome-wide screen of otosclerosis in population biobanks: 27 loci and shared associations with skeletal structure

JT Rämö, T Kiiskinen, R Seist, K Krebs, M Kanai… - Nature …, 2023 - nature.com
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 …

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 …