Nilesh J. Samani

Genomic, phenomic, and geographic associations of leukocyte telomere length in the United States

This study examines associations between leukocyte telomere length and genomic, phenomic, and geographic factors in diverse U.S. populations, identifying novel loci and genes.

Preventing premature deaths through polygenic risk scores

This study evaluates how polygenic risk scores can optimize screening programs to reduce premature deaths by tailoring screening ages based on genetic risk.

Integrative kidney multi-omics traces genetic drivers of chronic kidney disease to targets within the renal epigenome, transcriptome and proteome

The paper identifies 508 CKD-associated genetic loci, prioritizes 651 kidney genes, and highlights novel CKD genes like CA12 with functional consequences.

Dissecting the Cellular Genetics of Cardiovascular Disease Through Endothelial and Immune Compartments Profiling

This study identifies genetic determinants of endothelial cell molecular traits and their overlap with disease GWAS loci, revealing shared and unique mechanisms in non-communicable diseases.

Could Metformin use reduce abdominal aortic aneurysm risk? A Mendelian randomisation study using known Metformin targets

This study uses Mendelian randomisation to investigate a causal link between Metformin use and reduced abdominal aortic aneurysm risk, finding a statistically significant association.

Genetic architecture of telomere length in 462,675 UK Biobank whole-genome sequences

The paper identifies 53 rare variants and 22 genes associated with telomere length using UK Biobank whole-genome sequences, highlighting their role in clonal haematopoiesis and disease.

Genetic reprogramming by brief inhibition of the renin-angiotensin system in spontaneously hypertensive rats leads to persistently reduced kidney renin and low blood pressure.

The paper shows that early treatment with RAS inhibitors in SHR reduces kidney renin expression and lowers blood pressure long-term through genetic and epigenetic changes.

Identification and Characterization of novel long non-coding RNAs in vascular smooth cells

The paper identifies and characterizes 329 novel long non-coding RNAs in vascular smooth muscle cells, finding they are mostly antisense transcripts with cytoplasmic localization and miRNA targets.

Common genetic variations in telomere length genes and lung cancer

This study investigates the relationship between genetically predicted leukocyte telomere length and lung cancer risk, finding a causal association and novel susceptibility loci.

Genome-wide association meta-analysis of spontaneous coronary artery dissection reveals common variants and genes related to artery integrity and tissue-mediated coagulation

This study identifies 17 genetic risk loci for spontaneous coronary artery dissection (SCAD), including 12 new ones, and highlights genes related to artery integrity and coagulation.

A major population resource of 474,074 participants in UK Biobank to investigate determinants and biomedical consequences of leukocyte telomere length.

The paper reports LTL measurements in 474,074 UK Biobank participants, identifying factors like age, sex, ethnicity, and white cell count associated with LTL variation.

Variation in Human Herpesvirus 6B telomeric integration, excision and transmission between tissues and individuals

The paper investigates the integration, excision, and transmission of HHV-6B in telomeres across tissues and individuals, revealing maternal transmission and dynamic transitions between integrated and free virus forms.

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.

Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease

This study investigates the impact of heterozygous ABCG5 LoF variants on LDL-C levels and CAD risk, finding a significant association with elevated LDL-C and doubled CAD risk.

Rare Loss-of-Function Mutations of PTGIR identified in Fibromuscular Dysplasia and Spontaneous Coronary Artery Dissection

The paper identifies rare loss-of-function mutations in PTGIR in FMD and SCAD patients, showing impaired prostacyclin receptor function and suggesting a role for prostacyclin signaling in these diseases.

A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease

The paper identifies a missense variant in the MARC1 gene associated with protection against cirrhosis and lower liver enzyme and cholesterol levels.

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

This study identifies 14 genome-wide significant loci and a polygenic signature for myeloproliferative neoplasms, implicating hematopoietic stem cell function and self-renewal in disease risk.

Use of polygenic risk scores and other molecular markers to enhance cardiovascular risk prediction: Prospective cohort study and modelling analysis

This study evaluates how adding polygenic risk scores and clinical biochemistry markers to conventional CVD risk models improves prediction accuracy and informs statin therapy decisions in a UK primary care setting.

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 210 loci underlying cardiac conduction

This study identifies 210 genetic loci associated with the PR interval through multi-ancestry GWAS, highlighting their role in cardiac conduction and cardiovascular disease.

KCND3 is a novel susceptibility locus for early repolarization

This study identifies a genome-wide significant association between a variant in the KCND3 gene and early repolarization pattern on ECG, suggesting a genetic basis for this trait.

Cis-epistasis at the LPA locus and risk of coronary artery disease

The paper identifies cis-epistasis at the LPA locus involving two SNPs that interact to modulate coronary artery disease risk and related traits.

Genome-wide association and functional studies identify 46 novel loci for alcohol consumption and suggest common genetic mechanisms with neuropsychiatric disorders

This study identifies 46 novel genetic loci associated with alcohol consumption and suggests shared genetic mechanisms with neuropsychiatric disorders using GWAS and functional analyses.

Discovering patterns of pleiotropy in genome-wide association studies

This paper introduces SAPPHO methods to detect pleiotropy in GWAS by modeling shared patterns of genetic associations, finding 16 additional and 124 novel loci in meta-analysis.

Genomic risk prediction of coronary artery disease in nearly 500,000 adults: implications for early screening and primary prevention

This paper develops a genomic risk score for coronary artery disease using 1.7 million variants and tests it in UK Biobank, showing it outperforms conventional risk factors in predicting CAD risk.

Genome-wide association meta-analysis of PR interval identifies 47 novel loci associated with atrial and atrioventricular electrical activity

This study identifies 47 novel genetic loci associated with PR interval through genome-wide association meta-analysis across multiple populations.