Paul W. Franks

Biobank-scale survey of gene-diet interactions informs precision nutrition polygenic scores

The paper assesses gene-diet interactions in UK Biobank data to derive polygenic scores that associate with cardiometabolic outcomes and clinical conditions like gout.

Modelling genetic risk of β-cell dysfunction in human induced pluripotent stem cells from patients carrying the MTNR1B risk variant.

This study uses hiPSC and hESC to model the MTNR1B risk variant's effect on β-cell function, finding increased MTNR1B protein and melatonin sensitivity in G-allele carriers.

Genetic analysis of blood molecular phenotypes reveals regulatory networks affecting complex traits: a DIRECT study.

The paper identifies shared genetic regulation across mRNA, proteins, and metabolites in blood, revealing networks and mediators of GWAS variants.

Identification of a weight loss-associated causal eQTL in MTIF3 and the effects of MTIF3 deficiency on human adipocyte function

The paper identifies a causal eQTL at MTIF3 associated with weight loss and shows MTIF3 deficiency affects adipocyte mitochondrial function and lipid metabolism.

Pharmacogenomics of GLP-1 Receptor Agonists: A genome-wide analysis of observational data and large randomized controlled trials

This study identifies genetic variants associated with glycaemic response to GLP-1 receptor agonists using observational and trial data, finding variants in GLP-1R and ARRB1 linked to HbA1c reduction.

Human blood DNA methylation patterns reflect individual lifestyle

The paper examines how lifestyle factors affect DNA methylation in blood, identifying DMPs and DMRs linked to lifestyle categories and biological pathways.

Metabolic resilience is encoded in genome plasticity

The paper investigates how genome plasticity and transcriptional organization enable metabolic resilience to nutrient limitation and fasting endurance.

Predicting and elucidating the etiology of fatty liver disease using a machine learning-based approach: an IMI DIRECT study

This study develops machine learning models to predict liver fat content using multi-omic and clinical data from NAFLD patients, achieving higher accuracy than existing tools.

Genomic evaluation of circulating proteins for drug target characterisation and precision medicine

The paper identifies pQTLs for cardiovascular proteins and uses them to evaluate drug targets and suggest new candidates for precision medicine.

Variation in the plasma membrane monoamine transporter (PMAT, encoded in SLC29A4) and organic cation transporter 1 (OCT1, encoded in SLC22A1) and gastrointestinal intolerance to metformin in type 2 diabetes: an IMI DIRECT study

This study investigates the association between genetic variants in PMAT and OCT1 transporters and metformin gastrointestinal intolerance in type 2 diabetes patients.

PROTEIN-CODING VARIANTS IMPLICATE NOVEL GENES RELATED TO LIPID HOMEOSTASIS CONTRIBUTING TO BODY FAT DISTRIBUTION

This study identifies 15 common and 9 low-frequency protein-coding variants associated with body fat distribution, implicating novel genes related to lipid homeostasis and type 2 diabetes.

A Comprehensive Evaluation of the Genetic Architecture of Sudden Cardiac Arrest

This study evaluates the genetic architecture of sudden cardiac arrest through GWAS and Mendelian randomization, finding genetic correlations with CAD, height, BMI, and electrical instability traits.

Consortium genome-wide meta-analysis for childhood dental caries traits

This paper conducts a consortium-wide GWAS to identify genetic variants associated with childhood dental caries, finding two significant loci but low heritability estimates.

Causal Analyses, Statistical Efficiency And Phenotypic Precision Through Recall-By-Genotype Study Design

This paper introduces the Recall-by-Genotype study design to improve causal inference in genetic studies through genotype-directed deep-phenotyping.