Nature Search

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Numerous genetic variants, including those located in the non-coding regions of the genome, are known to be associated with blood cells traits. Here, Frontini and colleagues investigate their potential regulatory functions using epigenomic data and promoter long-range interactions.

Romina Petersen
John J. Lambourne
Mattia Frontini
ResearchOpen Access13 Jul 2017
Nature Communications

Volume: 8, P: 1-12
Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

PU.1 is a master regulator of myeloid development but its role in disease-relevant neutrophils is not well known. Here, the authors look at primary neutrophils from a human population and find that genetic variants affecting binding of PU.1 are associated with cell count and disease susceptibility.

Stephen Watt
Louella Vasquez
Nicole Soranzo
ResearchOpen Access16 Apr 2021
Nature Communications

Volume: 12, P: 1-12
Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status

Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disorder characterised by asthma, eosinophilia and vasculitis. Here, the authors describe a genome-wide association study of EGPA that reveals clinical and genetic differences between subgroups stratified by autoantibody status (ANCA).

Paul A Lyons
James E Peters
Kenneth G. C. Smith
ResearchOpen Access12 Nov 2019
Nature Communications

Volume: 10, P: 1-13
Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Valentina Iotchkova
Jie Huang
Nicole Soranzo
Amendments and Corrections02 Nov 2018
Nature Genetics

Volume: 50, P: 1752
Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Nicole Soranzo, Alexander Reiner, Paul Auer and colleagues use whole-genome sequencing data to impute the genotypes of over 35,000 individuals and perform a genome-wide association study for 20 quantitative cardiometabolic and hematological traits. They find 17 new associations and apply fine-mapping analysis to resolve causal variants for a number of the loci.

Valentina Iotchkova
Jie Huang
Nicole Soranzo
Research26 Sept 2016
Nature Genetics

Volume: 48, P: 1303-1312

Search

Filter By:

Platelet function is modified by common sequence variation in megakaryocyte super enhancers

Genetic perturbation of PU.1 binding and chromatin looping at neutrophil enhancers associates with autoimmune disease

Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status

Author Correction: Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps

Search

Quick links