Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a
central role in the pathophysiology of allergic inflammation. We have identified 16 patients …
central role in the pathophysiology of allergic inflammation. We have identified 16 patients …
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
[PDF][PDF] Neutrophil “plucking” on megakaryocytes drives platelet production and boosts cardiovascular disease
T Petzold, Z Zhang, I Ballesteros, I Saleh, A Polzin… - Immunity, 2022 - cell.com
Intravascular neutrophils and platelets collaborate in maintaining host integrity, but their
interaction can also trigger thrombotic complications. We report here that cooperation …
interaction can also trigger thrombotic complications. We report here that cooperation …
Short chain fatty acid metabolism in relation to gut microbiota and genetic variability
It is widely accepted that the gut microbiota plays a significant role in modulating
inflammatory and immune responses of their host. In recent years, the host-microbiota …
inflammatory and immune responses of their host. In recent years, the host-microbiota …
Genetic regulation of the human plasma proteome in 54,306 UK Biobank participants
Abstract The UK Biobank Pharma Proteomics Project (UKB-PPP) is a collaboration between
the UK Biobank (UKB) and thirteen biopharmaceutical companies characterising the plasma …
the UK Biobank (UKB) and thirteen biopharmaceutical companies characterising the plasma …
Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses
Exome association studies to date have generally been underpowered to systematically
evaluate the phenotypic impact of very rare coding variants. We leveraged extensive …
evaluate the phenotypic impact of very rare coding variants. We leveraged extensive …
GWAS of three molecular traits highlights core genes and pathways alongside a highly polygenic background
Genome-wide association studies (GWAS) have been used to study the genetic basis of a
wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for …
wide variety of complex diseases and other traits. We describe UK Biobank GWAS results for …
[PDF][PDF] The Michigan Genomics Initiative: a biobank linking genotypes and electronic clinical records in Michigan Medicine patients
M Zawistowski, LG Fritsche, A Pandit, B Vanderwerff… - Cell Genomics, 2023 - cell.com
Biobanks of linked clinical patient histories and biological samples are an efficient strategy
to generate large cohorts for modern genetics research. Biobank recruitment varies by …
to generate large cohorts for modern genetics research. Biobank recruitment varies by …
ADRA2A and IRX1 are putative risk genes for Raynaud's phenomenon
S Hartmann, S Yasmeen, BM Jacobs… - Nature …, 2023 - nature.com
Raynaud's phenomenon (RP) is a common vasospastic disorder that causes severe pain
and ulcers, but despite its high reported heritability, no causal genes have been robustly …
and ulcers, but despite its high reported heritability, no causal genes have been robustly …
The missing link between genetic association and regulatory function
The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …
widely assumed that such alleles exert small regulatory effects on the expression of cis …