Studie deckt mehr als 1000 genetische Schalter auf, die in weiblichen Immunzellen unterschiedlich funktionieren, und hilft zu erklären, warum bei Frauen häufiger eine Autoimmunerkrankung diagnostiziert wird als bei Männern

Hi r/science – sharing this study that our researchers and peers from the Garvan Institute of Medical Research have published in The American Journal of Human Genetics: [https://doi.org/10.1016/j.ajhg.2026.04.003](https://doi.org/10.1016/j.ajhg.2026.04.003)

The study sequenced more than 1.25 million peripheral blood mononuclear cells from nearly 1000 healthy individuals. These participants were part of the OneK1K cohort, a major Australian project designed to map how genetics influence individual immune cells at a population scale.

Analysis revealed distinct cellular profiles between the sexes. Males had higher proportions of monocytes, and their genetic activity was more concentrated on basic cellular maintenance and protein-building functions. In contrast, females had higher levels of immune cells called B cells and regulatory T cells, with genetic activity heavily skewed towards inflammatory pathways.

It is often assumed that immune differences between females and males are driven primarily by the X and Y sex chromosomes but the researchers found these sex-specific genetic switches were far less common on the sex chromosomes than expected. Instead, they discovered the vast majority of these variations reside on autosomes – the shared non-sex chromosomes – identifying more than 1000 sex-specific genetic switches in these regions.

Importantly, these genetic controls were linked directly to autoimmune conditions. The team found specific variants affecting the female-biased expression of two genes associated with systemic lupus erythematosus, potentially helping to explain why lupus is nine times more common in women compared with men.