The genetics of human performance

DS Kim, MT Wheeler, EA Ashley - Nature Reviews Genetics, 2022 - nature.com
Human physiology is likely to have been selected for endurance physical activity. However,
modern humans have become largely sedentary, with physical activity becoming a leisure …

Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies

AP Morris, TH Le, H Wu, A Akbarov… - Nature …, 2019 - nature.com
Chronic kidney disease (CKD) affects~ 10% of the global population, with considerable
ethnic differences in prevalence and aetiology. We assemble genome-wide association …

Identification of risk loci for primary aldosteronism in genome-wide association studies

E Le Floch, T Cosentino, CK Larsen… - Nature …, 2022 - nature.com
Primary aldosteronism affects up to 10% of hypertensive patients and is responsible for
treatment resistance and increased cardiovascular risk. Here we perform a genome-wide …

Biological role of unsaturated fatty acid desaturases in health and disease

A Czumaj, T Śledziński - Nutrients, 2020 - mdpi.com
Polyunsaturated fatty acids (PUFAs) are considered one of the most important components
of cells that influence normal development and function of many organisms, both eukaryotes …

[HTML][HTML] Genetic susceptibility to chronic kidney disease–some more pieces for the heritability puzzle

M Cañadas-Garre, K Anderson, R Cappa… - Frontiers in …, 2019 - frontiersin.org
Chronic kidney disease (CKD) is a major global health problem with an increasing
prevalence partly driven by aging population structure. Both genomic and environmental …

A multi-ethnic polygenic risk score is associated with hypertension prevalence and progression throughout adulthood

N Kurniansyah, MO Goodman, TN Kelly… - Nature …, 2022 - nature.com
In a multi-stage analysis of 52,436 individuals aged 17-90 across diverse cohorts and
biobanks, we train, test, and evaluate a polygenic risk score (PRS) for hypertension risk and …

Association between diabetes, diabetic retinopathy, and glaucoma

Y Li, W Mitchell, T Elze, N Zebardast - Current Diabetes Reports, 2021 - Springer
Abstract Purpose of Review The strength of the relationship between diabetes, diabetic
retinopathy (DR), and glaucoma remains controversial. We review evidence supporting and …

Incorporating functional priors improves polygenic prediction accuracy in UK Biobank and 23andMe data sets

C Márquez-Luna, S Gazal, PR Loh, SS Kim… - Nature …, 2021 - nature.com
Polygenic risk prediction is a widely investigated topic because of its promising clinical
applications. Genetic variants in functional regions of the genome are enriched for complex …

Causal effects of blood lipids on amyotrophic lateral sclerosis: a Mendelian randomization study

P Zeng, X Zhou - Human molecular genetics, 2019 - academic.oup.com
Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disorder that is
predicted to increase across the globe by~ 70% in the following decades. Understanding the …

VISTA: Coming of age as a multi-lineage immune checkpoint

MA ElTanbouly, E Schaafsma… - Clinical & …, 2020 - academic.oup.com
The immune response is governed by a highly complex set of interactions among cells and
mediators. T cells may be rendered dysfunctional by the presence of high levels of antigen …