Kyong‐Mi Chang

This study evaluates cancer-specific polygenic risk scores (PRS) across diverse ancestries and finds they predict corresponding cancers with varying effectiveness and limited pleiotropy.

The paper identifies 800 exome-wide significant rare coding variants associated with blood lipids in over a million diverse individuals, including 130 driven by non-European-like populations.

The paper identifies genetic variants associated with diurnal glucose levels and their role in type 2 diabetes risk.

This paper develops and validates multi-ancestry polygenic risk scores for type 2 diabetes prediction and complications across diverse populations.

The paper investigates why the 9p21.3 CAD risk locus fails to replicate in African ancestry cohorts, finding ancestry-specific LD and haplotype diversity explain the lack of association.

The paper shows that chronic inflammation in the liver leads to the formation of long-lived inflammatory macrophages derived from monocytes, which retain an inflammatory profile and may drive liver disease progression.

The paper identifies CXCL12 as a genetic driver of coronary artery anatomy variation through GWAS and mouse models, showing its role in fetal coronary development.

The paper identifies 57 druggable targets for MASLD using genetic data and evaluates their therapeutic potential through Mendelian randomization and structural modeling.

This study examines the association between CYP2C19 polymorphisms and major adverse cardiac events after PCI in patients with ACS or SIHD, finding no significant overall association but a numerical increase in risk for ACS patients.

This paper introduces EDGE, a method to detect nonadditive genetic effects in GWAS, finding nonadditive patterns in over 52% of significant loci for coronary artery disease and body mass index.

This study conducts a trans-ancestry GWAS using chronic ALT elevation as a proxy for NAFLD, identifies 77 significant loci, and validates 17 SNPs with histology and imaging data, revealing genetic links to metabolic and inflammatory traits.

This study identifies genetic variants associated with severe COVID-19 and finds shared genetic architecture with complex diseases using EHR data from the Million Veteran Program.

This study performs multi-trait GWAS on atherosclerosis-related traits to identify novel pleiotropic loci and their potential biological mechanisms.

This study identifies a significant association between the V122I TTR variant and polyneuropathy in Black individuals, highlighting increased risk of hATTR amyloidosis manifestations.

This study identifies pleiotropic genetic loci shared between Alzheimer's disease and cardiometabolic traits using bivariate GWAS and colocalization analysis.

This study uses Mendelian randomization to assess the causal relationship between plasma lipid levels and breast cancer risk, finding that higher HDL levels are associated with increased breast cancer risk.

This study shows smoking increases type 2 diabetes risk through BMI, but not coronary artery disease risk, using Mendelian randomization.

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