Mark I. McCarthy
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View article: Accelerating Medicines Partnership in Type 2 Diabetes and Common Metabolic Diseases: Collaborating to Maximize the Value of Genetic and Genomic Data.
Accelerating Medicines Partnership in Type 2 Diabetes and Common Metabolic Diseases: Collaborating to Maximize the Value of Genetic and Genomic Data. Open
In the last two decades, significant progress has been made toward understanding the genetic basis of type 2 diabetes. An important supporter of this research has been the National Institute of Diabetes and Digestive and Kidney Diseases (N…
View article: Clonal hematopoiesis is associated with reduced response to atezolizumab in non-small cell lung cancer
Clonal hematopoiesis is associated with reduced response to atezolizumab in non-small cell lung cancer Open
Background The acquisition of somatic mutations associated with the expansion of certain hematopoietic stem cells is known as clonal hematopoiesis (CH). Despite evidence of CH association with age-related pro-inflammatory diseases, little …
View article: Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty
Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty Open
Frailty is a clinically relevant phenotype with notable gaps in our understanding of its etiology. Using the Hospital Frailty Risk Score (HFRS) to define frailty, we performed a genome-wide association study in FinnGen ( N = 500,737), repl…
View article: Bayesian network imputation methods applied to multi-omics data identify putative causal relationships in a type 2 diabetes dataset containing incomplete data: An IMI DIRECT Study
Bayesian network imputation methods applied to multi-omics data identify putative causal relationships in a type 2 diabetes dataset containing incomplete data: An IMI DIRECT Study Open
Here we report the results from exploratory analysis using a Bayesian network approach of data originally derived from a large North European study of type 2 diabetes (T2D) conducted by the IMI DIRECT consortium. 3029 individuals (795 with…
View article: A Biological-Systems-Based Analyses Using Proteomic and Metabolic Network Inference Reveals Mechanistic Insights into Hepatic Lipid Accumulation: An IMI-DIRECT Study
A Biological-Systems-Based Analyses Using Proteomic and Metabolic Network Inference Reveals Mechanistic Insights into Hepatic Lipid Accumulation: An IMI-DIRECT Study Open
Objective To delineate organ-specific and systemic drivers of metabolic dysfunction-associated steatotic liver disease (MASLD), we applied integrative causal inference across clinical, imaging, and proteomic domains in individuals with and…
View article: Accelerating Medicines Partnerships<sup>®</sup> in Type 2 Diabetes and Common Metabolic Diseases: collaborating to maximize the value of genetic and genomic data
Accelerating Medicines Partnerships<sup>®</sup> in Type 2 Diabetes and Common Metabolic Diseases: collaborating to maximize the value of genetic and genomic data Open
In the last two decades, significant progress has been made toward understanding the genetic basis of type 2 diabetes. An important supporter of this research has been the National Institute of Diabetes and Digestive and Kidney Diseases (N…
View article: Accelerating Medicines Partnerships<sup>®</sup> in Type 2 Diabetes and Common Metabolic Diseases: collaborating to maximize the value of genetic and genomic data
Accelerating Medicines Partnerships<sup>®</sup> in Type 2 Diabetes and Common Metabolic Diseases: collaborating to maximize the value of genetic and genomic data Open
In the last two decades, significant progress has been made toward understanding the genetic basis of type 2 diabetes. An important supporter of this research has been the National Institute of Diabetes and Digestive and Kidney Diseases (N…
View article: Accelerating Medicines Partnership in Type 2 Diabetes and Common Metabolic Diseases: Collaborating to Maximize the Value of Genetic and Genomic Data
Accelerating Medicines Partnership in Type 2 Diabetes and Common Metabolic Diseases: Collaborating to Maximize the Value of Genetic and Genomic Data Open
In the last two decades, significant progress has been made toward understanding the genetic basis of type 2 diabetes. An important supporter of this research has been the National Institute of Diabetes and Digestive and Kidney Diseases (N…
View article: HLA Class II Alleles are associated with Anti-Drug Antibodies in Ulcerative Colitis Patients Treated with Etrolizumab
HLA Class II Alleles are associated with Anti-Drug Antibodies in Ulcerative Colitis Patients Treated with Etrolizumab Open
Patients treated with etrolizumab, a monoclonal antibody drug for ulcerative colitis, often develop anti-drug antibodies (ADA) and neutralizing antibodies (NAb). To investigate genetic risk factors, we evaluated associations between HLA al…
View article: Genome-wide association study of Idiopathic Pulmonary Fibrosis susceptibility using clinically-curated European-ancestry datasets
Genome-wide association study of Idiopathic Pulmonary Fibrosis susceptibility using clinically-curated European-ancestry datasets Open
Background Idiopathic pulmonary fibrosis (IPF) is a rare, incurable lung disease with a median survival of 3-5 years after diagnosis. Treatment options are limited. Genetic association studies can identify new genes involved in disease tha…
View article: Optimizing approaches for targeted integration of transgenic cassettes by integrase-mediated cassette exchange in mouse and human stem cells
Optimizing approaches for targeted integration of transgenic cassettes by integrase-mediated cassette exchange in mouse and human stem cells Open
To enable robust expression of transgenes in stem cells, recombinase-mediated cassette exchange at safe harbor loci is frequently adopted. The choice of recombinase enzyme is a critical parameter to ensure maximum efficiency and accuracy o…
View article: Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort
Genetic associations of neuropathic pain and sensory profile in a deeply phenotyped neuropathy cohort Open
We aimed to investigate the genetic associations of neuropathic pain in a deeply phenotyped cohort. Participants with neuropathic pain were cases and compared with those exposed to injury or disease but without neuropathic pain as control …
View article: Very high fire danger in UK in 2022 at least 6 times more likely due to human-caused climate change
Very high fire danger in UK in 2022 at least 6 times more likely due to human-caused climate change Open
The UK experienced an unprecedented heatwave in 2022, with temperatures reaching 40°C for the first time in recorded history. This extreme heat was accompanied by widespread fires across London and elsewhere in England, which destroyed hou…
View article: Integrated clinical risk prediction of type 2 diabetes with a multifactorial polygenic risk score
Integrated clinical risk prediction of type 2 diabetes with a multifactorial polygenic risk score Open
Combining information from multiple GWASs for a disease and its risk factors has proven a powerful approach for development of polygenic risk scores (PRSs). This may be particularly useful for type 2 diabetes (T2D), a highly polygenic and …
View article: Single cell multiome profiling of pancreatic islets reveals physiological changes in cell type-specific regulation associated with diabetes risk
Single cell multiome profiling of pancreatic islets reveals physiological changes in cell type-specific regulation associated with diabetes risk Open
Physiological variability in pancreatic cell type gene regulation and the impact on diabetes risk is poorly understood. In this study we mapped gene regulation in pancreatic cell types using single cell multiomic (joint RNA-seq and ATAC-se…
View article: Multi-omics characterization of type 2 diabetes associated genetic variation
Multi-omics characterization of type 2 diabetes associated genetic variation Open
Discerning the mechanisms driving type 2 diabetes (T2D) pathophysiology from genome-wide association studies (GWAS) remains a challenge. To this end, we integrated omics information from 16 multi-tissue and multi-ancestry expression, prote…
View article: The Association of Cardiometabolic, Diet and Lifestyle Parameters With Plasma Glucagon-like Peptide-1: An IMI DIRECT Study
The Association of Cardiometabolic, Diet and Lifestyle Parameters With Plasma Glucagon-like Peptide-1: An IMI DIRECT Study Open
Context The role of glucagon-like peptide-1 (GLP-1) in type 2 diabetes (T2D) and obesity is not fully understood. Objective We investigate the association of cardiometabolic, diet, and lifestyle parameters on fasting and postprandial GLP-1…
View article: Development of a student intervarsity interprofessional healthcare team challenge to promote collaboration and teamwork
Development of a student intervarsity interprofessional healthcare team challenge to promote collaboration and teamwork Open
This curricular report describes the development and evaluation of an intervarsity competition entitled the All-Ireland Interprofessional Healthcare Challenge (AIPEC). Students from eight universities across the Republic of Ireland and Nor…
View article: Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome
Genomic and proteomic evidence for hormonal and metabolic foundations of polycystic ovary syndrome Open
Polycystic ovary syndrome (PCOS) and its underlying features remain poorly understood. In this genetic and proteomic study, we expand the number of genetic loci from 19 to 29, and identify 31 associated plasma proteins. Many risk-increasin…