Kathryn L. Lunetta

A multi-ancestry polygenic risk score for Alzheimer disease is associated with cognitive decline, hippocampal atrophy and neuropathological hallmarks in diverse populations

This paper develops an APOE-independent polygenic risk score for Alzheimer's disease that shows associations with cognitive decline and neuropathological markers across diverse populations.

Genome-wide pleiotropy analysis of longitudinal blood pressure and harmonized cognitive performance measures

This paper identifies genome-wide pleiotropic loci linking blood pressure and cognitive performance measures using longitudinal data from multiple cohorts.

Learning Gaussian Graphical Models from Correlated Data

This paper introduces a Bootstrap algorithm to infer Gaussian Graphical Models from correlated data, showing it controls Type I error better than conventional methods in simulations and a real family-based study.

Understanding the genetic complexity of puberty timing across the allele frequency spectrum

This study identifies genetic signals associated with age at menarche, highlights genes involved in pubertal development, and links reproductive timing to later life disease risk.

Adjusting for Common Variant Polygenic Scores Improves Yield in Rare Variant Association Analyses

The paper shows adjusting for common variant polygenic scores improves rare variant association yield in 65 UK Biobank traits without increasing false positives.

APOE Genotype-specific Methylation Patterns are Linked to Alzheimer Disease Pathology and Estrogen Response

This study identifies APOE genotype-specific methylation patterns in blood and brain linked to Alzheimer's disease and estrogen response.

Endophenotype Effect Sizes Provide Evidence Supporting Variant Pathogenicity in Monogenic Disease Susceptibility Genes

The paper shows that variant effect sizes on quantitative endophenotypes support pathogenicity in monogenic disease genes.

Polygenic Risk Scores for Prediction of Breast Cancer Risk in Women of African Ancestry: a Cross-Ancestry Approach

This paper develops polygenic risk scores for breast cancer prediction in women of African ancestry by combining African and European ancestry datasets, improving prediction accuracy.

Monogenic and Polygenic Contributions to QTc Prolongation in the Population

This study investigates how rare and common genetic variations contribute to QT interval duration, finding that both monogenic and polygenic factors influence QTc prolongation, with polygenic risk modulating the effect of rare variants.

Rare Genetic Variation Underlying Human Diseases and Traits: Results from 200,000 Individuals in the UK Biobank

The paper identifies 51 known and 23 novel gene-disease associations using exome sequencing data from 200,000 UK Biobank participants, highlighting high-impact rare variants for 26 diseases and traits.

Protein phosphatase 2A, complement component 4, and APOE genotype linked to Alzheimer disease using a systems biology approach

This paper identifies PPP2CB and C4B as key genes linked to Alzheimer's disease through a systems biology approach, showing their association with tau pathology and complement pathway activation.

Integrative Brain Transcriptome Analysis Links Complement Component 4 and HSPA2 to the APOE ε2 Protective Effect in Alzheimer Disease

The paper identifies a co-expression network involving C4A, C4B, and HSPA2 linked to APOE ε2's protective effect against Alzheimer's disease, primarily associated with tau pathology.

Cell-type Specific Expression Quantitative Trait Loci Associated with Alzheimer Disease in Blood and Brain Tissue

The paper identifies cell-type specific eQTLs associated with Alzheimer's disease in blood and brain tissue, finding shared genes and pathways relevant to AD risk.

Genome-wide meta-analysis of muscle weakness identifies 15 susceptibility loci in older men and women

This study identifies 15 genetic loci associated with muscle weakness in older adults through a large meta-analysis, revealing new pathways linked to aging and health outcomes.

Genetic analysis of mitochondrial DNA copy number and associated traits identifies loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation, and reveals a causal association of mitochondrial function with mortality

This study identifies 100 loci associated with mitochondrial DNA copy number and finds causal links between mitochondrial function and mortality.

Genome-wide association studies identify 137 loci for DNA methylation biomarkers of ageing

This study identifies 137 genome-wide significant loci associated with DNA methylation biomarkers of ageing using DNAm and SNP data from over 41,000 individuals.

Factors associated with opioid cessation: a machine learning approach

This study uses machine learning to identify factors associated with opioid cessation in individuals with OUD, finding that less recent cocaine use, shorter opioid duration, and older age are strongest predictors.

Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors

This study identifies genetic effects on birth weight and their impact on cardio-metabolic traits, distinguishing fetal and maternal contributions.

Genome-wide association study of offspring birth weight in 86,577 women highlights maternal genetic effects that are independent of fetal genetics

This study identifies maternal genetic variants associated with offspring birth weight using GWAS and SEM, showing independent effects from fetal genetics.

GWAS of epigenetic ageing rates in blood reveals a critical role for TERT

This study identifies genetic variants associated with epigenetic age acceleration and shows TERT's role in regulating the DNA methylation clock.