This study identifies a BACH2-NRF2 axis regulating fetal hemoglobin activation through genetic and functional analyses in a large multi-ancestry cohort.

Nature · Sep 30, 2026Peer-reviewedGenetic & Genomic Medicine

Population-scale immunoglobulin genetics resolves the human B-cell system

Zain Ali, Aitzkoa Lopez de Lapuente Portilla, Guðmar Þorleifsson, Antton Lamarca Arrizabalaga, Caterina Cafaro, Gisli Hreinn Halldorsson, Ludvig Ekdahl, Mineto Ota, Páll Melsted, Lilja Stefánsdóttir, Aslaug Jonsdottir, Asgeir Sigurdsson, Erna V. Ivarsdottir, Keishi Fujio, Stephen J. Harding, , Björn Nilsson

The paper uses population-scale Ig genetics to identify genetic associations and map their effects on the human B-cell system, revealing new genes and regulatory mechanisms in humoral immunity.

bioRxiv · Apr 1, 2026 · PreprintGenomics

BloodVariome: a high-resolution atlas of inherited genetic effects in human immune cells

Aitzkoa Lopez de Lapuente Portilla, Ludvig Ekdahl, Guðmar Þorleifsson, Zain Ali, Antton Lamarca Arrizabalaga, Caterina Cafaro, Saedís Saevarsdóttir, Guðný Ella Thorlacius, Gisli Hreinn Halldorsson, Lilja Stefánsdóttir, Páll Melsted, Nerea Ugidos-Damboriena, Maroulio Pertesi, Patrick Sulem, Daniel Fannar Gudbjartsson, , Björn Nilsson

BloodVariome identifies 259 genetic associations across 127 immune cell populations in 11,983 individuals, revealing fine-grained genetic compartmentalization of the immune system.

bioRxiv · Apr 1, 2026 · PreprintGenomics

Genome-wide association study on 13,167 individuals identifies regulators of hematopoietic stem and progenitor cell levels in human blood

Aitzkoa Lopez de Lapuente Portilla, Ludvig Ekdahl, Caterina Cafaro, Zain Ali, Natsumi Miharada, Gudmar Thorleifsson, Kristijonas Žemaitis, Antton Lamarca Arrizabalaga, Malte Thodberg, Maroulio Pertesi, Parashar Dhapola, Erik L. Bao, Abhishek Niroula, Divya Bali, Gudmundur Norddahl, , Björn Nilsson

A genome-wide association study identifies DNA variants influencing HSPC levels in human blood, with PPM1H as a novel regulator affecting stem cell subpopulations.

Blood · Jan 10, 2022Peer-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