Sex chromosomes as contributors to complex traits and sex differences

We are using large Finnish and international data sets to understand the role of sex chromosome genetic variation and gene expression in complex disease and other phenotypes, including whether sex chromosomes disproportionally impact disease risk in males and females. To this end, we also develop new analysis methods for sex chromosomal data that take into account the unique characteristics of these chromosomes.

The role of escape from X-inactivation in phenotypic diversity

We previously successfully piloted the use of single-cell RNA sequencing in the detailed study of X-inactivation, and are currently extending these efforts into larger and more diverse samples with a particular focus on immune system-related cell types. Additionally, we are interested in understanding the downstream impacts of this molecular-level phenomenon and to this end integrate the information from cellular-level studies with population-level data sets.

Insights into sex differences via gene expression

We believe that sex biases in gene expression may hold a key to understanding the differential physiology that underlies the sex differences in disease susceptibility. We are, therefore, elaborating the causes and consequences of these gene expression differences by integrating genetic, transcriptomic, and medical registry data using diverse data sets that are available to us through biobanks and collaborations with other research groups.

Sex hormones in human health and disease

We use large genetic and phenotype data sets data sets like FinnGen and the UK Biobank to understand how sex hormone levels contribute to human health and disease in both males and females. We utilize genetic markers that associate with sex hormone levels to investigate their impact on disease risk and also to elaborate the mechanisms by which sex hormones may contribute to sex differences.