The paper uses machine learning to quantify liver fat from MRI data and identifies genetic variants associated with liver fat accumulation and related diseases.

Cell Genomics · Dec 1, 2021Peer-reviewedGenetic & Genomic Medicine

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

Akihiro Nomura, Connor A. Emdin, Hong‐Hee Won, Gina Marie Peloso, Pradeep Natarajan, Diego Ardissino, John Danesh, Heribert Schunkert, Adolfo Correa, Matthew J. Bown, Nilesh J. Samani, Jeanette Erdmann, Ruth McPherson, Hugh C Watkins, Danish Saleheen, , Sekar Kathiresan

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.

Circulation Genomic and Precision Medicine · Aug 30, 2020Peer-reviewedGenetics

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

Connor A. Emdin, Mary E. Haas, Amit V. Khera, Krishna G. Aragam, Mark D. Chaffin, Derek M. Klarin, George Hindy, Lan Jiang, Wei‐Qi Wei, QiPing Feng, Juha M Karjalainen, Aki Samuli Havulinna, Tuomo Kiiskinen, Alexander G. Bick, Diego Ardissino, , Sekar Kathiresan

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

PLoS Genetics · Apr 13, 2020Peer-reviewedGenomics

Genetic predisposition to myeloproliferative neoplasms implicates hematopoietic stem cell biology

Erik L. Bao, Satish Kumar Nandakumar, Xiaotian Liao, Alexander G. Bick, Juha M Karjalainen, Marcin Tabaka, Olga I. Gan, Aki Samuli Havulinna, Tuomo Kiiskinen, Caleb A. Lareau, Aitzkoa Lopez de Lapuente Portilla, Bo Li, Connor A. Emdin, Veryan Codd, Christopher P. Nelson, , Vijay G. Sankaran

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.

bioRxiv · Oct 8, 2019 · PreprintGenetics

Genetic Association of Arterial Stiffness Index with Blood Pressure and Coronary Artery Disease

Seyedeh Maryam Zekavat, Krishna G. Aragam, Connor A. Emdin, Amit V. Khera, Derek M. Klarin, Hongyu Zhao, Pradeep Natarajan

This study investigates whether genetic predisposition to higher arterial stiffness index (ASI) is associated with blood pressure and coronary artery disease risk, finding a link with blood pressure but not CAD.

Arteriosclerosis Thrombosis and Vascular Biology · Apr 11, 2019Peer-reviewedBioinformatics

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Andrea Ganna, F. Kyle Satterstrom, Seyedeh Maryam Zekavat, Indraniel Das, Mitja Kurki, Claire Churchhouse, Jessica Alföldi, Alicia R. Martin, Aki Samuli Havulinna, Andrea Byrnes, Wesley Kurt Thompson, Philip Rising Nielsen, Konrad J. Karczewski, Elmo Saarentaus, Manuel A. Rivas, , Benjamin M. Neale

The paper investigates the impact of rare protein truncating variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals, finding increased risk for several disorders and associations with other phenotypes.

The American Journal of Human Genetics · May 31, 2018Peer-reviewedGenetics