Andrea Ganna

Dec 5, 2024 | nature.com | Elias Allara |Steven Bell |Dipender Gill |Liam Gaziano |Feiyi Wang |Vinicius Tragante | +30 more

AbstractIron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.

Dec 5, 2024 | nature.com | Elias Allara |Steven Bell |Dipender Gill |Liam Gaziano |Feiyi Wang |Vinicius Tragante | +30 more

AbstractIron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.

Dec 5, 2024 | nature.com | Elias Allara |Steven Bell |Dipender Gill |Liam Gaziano |Feiyi Wang |Vinicius Tragante | +30 more

AbstractIron homoeostasis is tightly regulated, with hepcidin and soluble transferrin receptor (sTfR) playing significant roles. However, the genetic determinants of these traits and the biomedical consequences of iron homoeostasis variation are unclear. In a meta-analysis of 12 cohorts involving 91,675 participants, we found 43 genomic loci associated with either hepcidin or sTfR concentration, of which 15 previously unreported.

Jun 12, 2024 | nature.com | Aoxing Liu |Giulio Genovese |Yajie Zhao |Matti Pirinen |Xiaoxi Liu |Bryan R. Gorman | +15 more

AbstractMosaic loss of the X chromosome (mLOX) is the most common clonal somatic alteration in leukocytes of female individuals1,2, but little is known about its genetic determinants or phenotypic consequences. Here, to address this, we used data from 883,574 female participants across 8 biobanks; 12% of participants exhibited detectable mLOX in approximately 2% of leukocytes. Female participants with mLOX had an increased risk of myeloid and lymphoid leukaemias.

Sep 9, 2023 | nature.com | Emil M Pedersen |David M. Hougaard |Thomas Werge |Anders D. Børglum |Katherine L. Musliner |Andrea Ganna | +3 more

AbstractProportional hazards models have been proposed to analyse time-to-event phenotypes in genome-wide association studies (GWAS). However, little is known about the ability of proportional hazards models to identify genetic associations under different generative models and when ascertainment is present. Here we propose the age-dependent liability threshold (ADuLT) model as an alternative to a Cox regression based GWAS, here represented by SPACox.