Åsa Johansson is mapping the links between genetics and disease risks
Researcher profile
“The more knowledge we gain, the clearer it becomes how complex the interplay between genetics, environment and lifestyle actually is,” says Åsa Johansson. Photo: Mikael Wallerstedt, Uppsala University
Behind the risks of common diagnoses such as cancer and cardiovascular disease lies a complex interplay between genetic, lifestyle and environmental factors. Åsa Johansson, Professor at the Department of Immunology, Genetics and Pathology, is mapping these correlations to make it easier to tailor care to individual patients in the future.
A high-profile study published in autumn 2025 has found that some hormonal contraceptives may be linked to a higher risk of breast cancer.
“This is something that needs to be investigated further,” says Åsa Johansson, who served as research leader and senior author of the study and was appointed professor at the Department of Immunology, Genetics and Pathology earlier that same year.
“To understand why some people get sick and others don’t, we need to look at subtle patterns and the interplay between genetics, lifestyle and environment.”
In her research, she focuses on how the interplay between these factors can be used and be of benefit both clinically and for the individual. Being able to more easily identify risk groups for diseases such as cancer and cardiovascular disease can benefit society as a whole.
Identifying risk factors
Combining genetic and molecular analyses of blood samples with comprehensive clinical and epidemiological data made it possible to identify the significance of various risk factors, the biological pathways through which these risk factors operate, and why the risk differs between individuals.
“The more knowledge we gain, the clearer it becomes how complex the interplay between genetics, environment and lifestyle actually is,” says Åsa Johansson.
For example, it can be seen that overweight women are underrepresented among those diagnosed with breast cancer before menopause, while being overweight after menopause appears to be a risk factor. Moreover, it is not necessarily the case that everyone with a high BMI needs to lose weight.
“There is such a thing as metabolically healthy obesity, where you are overweight without having issues such as high blood pressure or poor blood lipids,” says Åsa Johansson.
Sex and age must be taken into account
Factors such as sex and age must also be taken into account when discussing health risks.
“We will never be able to set a general value specifying ‘this is how dangerous it is to be overweight’.”
Åsa Johansson with colleagues Niklas Dahl and Daniel Eriksson. Photo: Mikael Wallerstedt, Uppsala University
The study on the link between hormonal contraceptives and breast cancer is an example of how even the use of medication can affect the risk of various diseases. Åsa Johansson hopes that, in the future, healthcare providers will perform genetic tests on patients before prescribing medication.
“It has long been known that there is a link between certain hormonal contraceptives and blood clots. This is a good example of how genetics can predict risks and which medication may be right for you. We want to incorporate this into healthcare,” she says.
Effective breast cancer screening
Genetic testing could also be used to streamline breast cancer screening programmes. Currently, women are invited for mammography screening every two years after they turn 40.
“Based on genetic risk factors, some women could be screened more frequently and from a younger age.”
As a researcher, Åsa Johansson sees it as a challenge to convince clinicians of the usefulness of academic findings. This is something that motivates her in her work.
“We work in a complex world, and it is not a given that publishing an article will have an impact in practice. That is why I work hard to link different environments together.”
Researchers collaborating with patients
One example of how she links different environments together is the newly started Clinical Academic Group (CAG), which connects research groups working on the same disease or health problem so they can find innovative solutions together. The researchers are in contact with patient associations and patients to ensure that the issues examined are relevant to those affected.
“The group also includes health economists, who can look at profitability. Testing incurs extra costs for healthcare, of course, but can be beneficial in the long run,” says Åsa Johansson.
In addition to her desire to collaborate with clinicians, she is driven by curiosity and appreciates that her field of research is so broad.
“I enjoy mathematical thinking and puzzling things out, so genetics is a good fit for me,” says Åsa Johansson.
Sigrid Asker
Facts: Åsa Johansson
Title: Professor of Immunology, Genetics and Pathology at Uppsala University and SciLifeLab.
Family: Husband and three children.
Home: Vendel in the Norduppland region.
Interests: I live on a farm with horses, sheep and a herding dog. It’s a childhood dream of mine to have my own horse farm one day.
Likes: Writing research applications. Many people complain about it, but I like it because it allows me to think creatively and focus only on the positive. It’s actually one of the most enjoyable aspects of research!
About being appointed professor: In practice, it doesn’t make much difference. It was more significant when I was appointed to a teaching position in 2017, because it was then that I felt I would definitely be staying here.
What makes me happy: When things are happening, both at work and in my private life. When I'm on holiday, I don’t want to lie in a sun lounger all day.