I am a Professor of Genetic Epidemiology since 1999. I have been at Karolinska Institutet for 36 years, served as the vice chair and chair of the Department of Medical Epidemiology and Biostatistics, and as the Vice Dean of research at KI. My research is based on the Swedish Twin Registry. With the help of twins a) I study the relative importance of genes and the environment for diseases and different behavioral characteristics, b) examine the effect of genes change over time and in different age c) analyze specific risk and protective factors for disease d) investigating whether there are associations between selected genes and diseases, and e) test whether there are interactions between genes and environmental effects. More recently, I have been working with biomarkers of aging such as telomere length, and epigenetics (methylation). I conduct several studies on "normal" aging, and age-related disorders such as Alzheimer’s and dementia, Parkinson's disease, and late-onset depression.
My research is focused on using twins in the Swedish Twin Registry to:
- Study the relative importance of genetic and environmental influences on characteristics and diseases
- Explore how the influence of genes changes over time and with increasing age
- Test the importance of specific risk and protective factors
- Test whether there are associations between specific genotypes and diseases or other characteristics
- Evaluate whether there are interactions between genes and environmental effects
- Study biomarkers of aging such as telomere length and epigenetics (methylation profiles)
Since the mid-1980s we have three ongoing programs in gerontological genetics: the Swedish Adoption/Twin Study of Aging (SATSA), the OCTO-Twin study of the origins of variance in the oldest-old, and the GENDER study of sex differences in aging. These studies, all of which were designed to address issues of why we age differently, have similar designs and testing instruments. Thus, there is longitudinal information from up to 30 years of follow-up available on measures of health and health-related behavior, physical functioning (functional aging), personality, and cognitive abilities.
We are now using the wealth of information from these studies of aging in a FORTE supported program project on Healthy Aging study. This integrated research program uses a lifespan approach to address questions about how lifestyle and the environment may have a buffering effect on genetic vulnerability, leading to a healthy aging. We incorporate both biomarker and “-omic” data with information on lifestyle from childhood throughout to adulthood and functioning in a variety of domains that together may be considered as indicators of healthy ageing.
In a sister program funded by the Vetenskapsrådet (Swedish Research Council), the Ageing and health study, we want to understand the heterogeneity of transition phases of ageing individuals. Together with colleagues from the Institute for Gerontology, Jönköping, we use a lifespan approach to address a number of questions about how environment, lifestyle and genes act in synergy, to produce individual patterns of outcomes. We focus in particular on early and midlife environments and biomarkers.
In the IGEMS consortium (Interplay of Genes and Environments across Multiple Studies), which I lead, we have combined these three studies plus 13 other longitudinal twin studies of adult development and aging, to characterize gene-environment (GE) interplay in aging-related outcomes toward understanding mechanisms for socioeconomic status (SES) inequalities in cognitive and physical health outcomes. The consortium now includes more than 51,000 twins from 5 countries.
Interest in normal aging has also led us to study age-related diseases such as Alzheimer's disease and other dementias, Parkinson's disease, and osteoporosis. Most of the twins for these disease focused studies come from Screening Across the Lifespan Twin study (SALT – Study) during which some 45,000 twins born before 1958 were screened concerning most common, complex diseases. Subsamples from SALT have been followed for in depth studies in which further phenotyping and genotyping were performed.
In the dementia study, known as HARMONY, we have neuropsychological and diagnostic workups and risk factor assessments of over 1,500 twins with suspected cognitive impairment and their co-twins (over 2,000 subjects in total). After extensive work examining genetic and environmental risk factors for Alzheimer’s disease and other dementias, we are now collaborating on the JPND funded ADAGE project, in which we use advanced biomolecular approaches (epigenomics, metabolomics and proteomics) to compare Alzheimer’s patients with people who have stayed healthy in old age.
A similar design was used in the Parkinson's study, which included telephone interviews of occupational and leisure time activities followed by a neurological examination of approximately 400 suspected cases and their co-twins. Propag-Ageing is the EU Horizon 2020 project on which we are collaborating.
LifeGene which started in 2009 is a unique project that betters our understanding about how our genes, our environment and the way we live affect our health. Around 50.000 Swedes have been contacted for information concerning their health, lifestyle and exposures, and for donation of blood samples. At the project start (baseline), individuals are contacted for assessments by age groups. Sampling for blood is done by LifeGene staff at LifeGene assessment centers and/or in mobile units.
Current supervision of post docs
- Andrea Foebel
- Kelli Lehto
- Miriam Mosing
- Juulia Jylhävä (with Sara Hägg)
- Dylan Williams (with Sara Hägg)
Current supervision of PhD students
- Kathleen Bokenberger
- Malin Ericsson
- Ida Karlsson
- Pia Glatz
- Fei Yang (co-supervisor)
- Johanna Sieurin (co-supervisor)
- Yiqiang Zhan (co-supervisor)
- BA (Magna cum Laude), Psychology, University of Minnesota (1974)
- MA, Psychology, University of Colorado (1977)
- PhD, Psychology (speciality Behavior Genetics), University of Colorado (1980)
Academic honours, awards and prizes
2014 Dobzhansky Award for Lifetime of Outstanding Scholarship in Behavior Genetics: Behavior Genetics Association
2009 Distinguished Professors Award, Karolinska Institutet
2007 The James Shields Memorial Award for Twin Research in Behavioral Genetics
2007 Distinguished Career Contribution to Gerontology Award, Gerontological Society of America
2007 Aston-Gottesman Lecture, University of Virginia
2004 Honorary doctorate “doctor honoris causa”, Jönköping University
2002 Fellow, Gerontological Society of America