Iftikhar J. Kullo

Inherited Susceptibility to Urinary Tract Infections from Kidney Papilla to Bladder

This study identifies 36 genetic loci associated with recurrent UTIs and highlights PSCA as a key gene involved in urinary epithelial defense against bacteria.

Mixed-effects polygenic risk score Phenome-wide association study detects genetic correlation between colorectal cancer risk and phenotype data extracted from the electronic health record

The paper uses a polygenic risk score for colorectal cancer in a PheWAS to find genetic correlations with other phenotypes from electronic health records.

Risk factors affecting polygenic score performance across diverse cohorts

The paper examines how covariates affect polygenic score performance across European and African cohorts, finding significant differences in R2 and interaction effects, and proposes methods to improve model performance.

Comparative Performance of Polygenic Risk Scores for Atherosclerotic Cardiovascular Disease Subtypes in the All of Us Research Program

This study evaluates polygenic risk scores (PRS) for ASCVD subtypes across diverse ancestry groups, finding that multi-ancestry and multi-trait PRS perform best, with CHD and AAA scores outperforming IS and PAD.

Joint Association of Polygenic Risk and Social Determinants of Health with Coronary Heart Disease in the United States

The paper assesses the joint impact of polygenic risk and social determinants of health on coronary heart disease in the US using the All of Us dataset.

Admix-kit: An Integrated Toolkit and Pipeline for Genetic Analyses of Admixed Populations

Admix-kit provides tools for genetic analysis of admixed populations, enabling simulation, association testing, and polygenic scoring.

Strong protective effect of the APOL1 p.N264K variant against G2-associated FSGS and kidney disease

The paper shows the APOL1 p.N264K variant reduces the risk of FSGS and kidney disease in individuals with G2 APOL1 risk alleles.

Projecting genetic associations through gene expression patterns highlights disease etiology and drug mechanisms

This paper introduces PhenoPLIER, a method that maps gene-trait and drug associations into gene modules to reveal disease mechanisms and drug targets.

Clinical consequences of a polygenic predisposition to benign lower white blood cell counts

This study investigates the clinical consequences of a genetic predisposition to lower white blood cell counts using a polygenic score and finds associations with bone marrow biopsy outcomes and treatment responses.

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

The paper selects and validates ten polygenic risk scores for clinical use in diverse populations, focusing on chronic diseases and addressing disparities in predictive performance.

Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets

The paper identifies epistatic SNP-SNP interactions in long-range LD across five diseases using UK Biobank and eMERGE data, finding associations involving conserved genes and essential genes.

Implicating genes, pleiotropy and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis

This study identifies 118 candidate causal genes and 21 novel lipid loci on the X chromosome through a multi-ancestry meta-analysis of blood lipid levels, revealing sex-biased effects and pleiotropy with cardiovascular and hormonal traits.

A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids

This paper integrates GWAS data with functional genomic datasets to identify regulatory mechanisms and causal genes underlying lipid-related traits.

Validation of a Trans-Ancestry Polygenic Risk Score for Type 2 Diabetes in Diverse Populations

This paper develops a trans-ancestry polygenic risk score for type 2 diabetes and validates it across diverse populations to improve equitable risk prediction.

Genome-wide polygenic score with APOL1 risk genotypes predicts chronic kidney disease across major continental ancestries

This paper develops a genome-wide polygenic score for chronic kidney disease that incorporates APOL1 risk genotypes and shows consistent performance across four major continental ancestries.

Multi-ancestry GWAS deciphers genetic architecture of abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target

This study identifies 144 genetic loci associated with abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target through Mendelian Randomization and pre-clinical validation.

Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study

The paper identifies pathogenic variants in arrhythmia genes in eMERGE-III participants and reclassifies variants of uncertain significance using functional studies.

Multi-ancestry gene-trait connection landscape using electronic health record (EHR) linked biobank data

The paper uses multi-ancestry biobank data and integrative methods to identify gene-disease associations across different ancestry groups, finding shared and ancestry-specific genetic links.

Discovery and systematic characterization of risk variants and genes for coronary artery disease in over a million participants.

A coronary artery disease GWAS of 181,522 cases among 1,165,690 participants yields 241 associations (54 new); an eight-predictor consensus nominates 185 candidate causal genes, 94 with ≥3 predictors.

Genomic Considerations for FHIR; eMERGE Implementation Lessons

This paper describes the implementation of HL7 FHIR standards for representing clinical genomics results in the eMERGE Networks, improving interoperability for genetic data management.

Improving reporting standards for polygenic scores in risk prediction studies

ClinGen and the PGS Catalog expand the GRIPS guideline into a 22-item Polygenic Risk Score Reporting Statement covering study populations, model construction, evaluation, and clinical interpretation.

Genetic association studies of fibromuscular dysplasia identify new risk loci and shared genetic basis with more common vascular diseases

Interleukin-6 Receptor Signalling and Abdominal Aortic Aneurysm Growth Rates

The paper investigates the effect of the IL6R-Asp358Ala variant on AAA growth and evaluates IL-6 pathway blockade in mouse models, finding no significant growth rate reduction but improved survival with trans-signalling inhibition.