A1 Refereed original research article in a scientific journal
Genetic, lifestyle and environmental influences on health: a Finnish biobank recall study protocol (BioRecall)
Authors: Sillanpää, Elina; Föhr, Tiina; Kurtti, Elisa; Aittola, Kirsikka; Mäkelä, Johanna; Southerington, Tom; Lakka, Timo A; Jokela, Tiina; Ahtiainen, Maarit; Laakkonen, Eija; Rantakokko, Merja; Ravi, Suvi
Publisher: BMJ
Publication year: 2026
Journal: BMJ Open
Article number: e100092
Volume: 16
eISSN: 2044-6055
DOI: https://doi.org/10.1136/bmjopen-2025-100092
Publication's open availability at the time of reporting: Open Access
Publication channel's open availability : Open Access publication channel
Web address : https://doi.org/10.1136/bmjopen-2025-100092
Self-archived copy’s web address: https://research.utu.fi/converis/portal/detail/Publication/515691675
Self-archived copy's licence: CC BY
Self-archived copy's version: Publisher`s PDF
Introduction
Non-communicable diseases are the leading causes of premature mortality worldwide. Both genetic predispositions and environmental exposures affect disease risk. While biobanks have increased understanding of genetic predictors of these diseases, environmental influences are expected to have a greater impact on disease development. Individuals also create their own environments and lifestyles based on genetically regulated preferences, leading to gene–environment interactions that require large datasets to study. Finnish biobanks typically lack sufficient lifestyle and environmental data, which limits their use. We present a protocol for a biobank-recall study (BioRecall) to collect data on lifestyle and environmental exposures and combine these findings with genotypes, biological samples and clinical outcomes.
Methods and analysis
All previously genotyped donors from the Central Finland Biobank who have been diagnosed with type 2 diabetes and have consented to recall will be invited to participate in the pilot study. The preliminary feasibility assessment reveals that there are 1580 suitable candidates. Participants will complete an electronic questionnaire on a secure online platform. The questionnaire includes validated questions on lifestyles, anthropometrics, weight loss history, health, symptoms, work characteristics, emotional states and residential environments. Postcode information will facilitate the addition of spatial environmental data. Genotype and related clinical data will be provided in the study in accordance with the Finnish Biobank Act and combined with questionnaire data.
Ethics and dissemination
The Human Sciences Ethics Committee of the University of Jyväskylä delivered a favourable statement regarding the study protocol (1671/13.00.04.00/2023). Central Finland Biobank approved the research plan (no: BB24-0333-A01). The data collected will be returned to the Central Finland Biobank for research purposes with the participants’ consent. Permission for data usage can then be applied through standard protocols of the Fingenious service (https://site.fingenious.fi/en/). If successful, the study will be expanded to other donors and Finnish biobanks.
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Funding information in the publication:
This project is supported by the JYU.Well strategic funding was provided by the University of Jyväskylä (to ES), and research infrastructure funding was obtained from the Research Council of Finland (grant number: 358894 to ES) as part of the BBMRI.fi consortium. ES is supported by the Research Council of Finland (grant numbers: 341750, 346509 and 361981), the Juho Vainio Foundation and the Päivikki and Sakari Sohlberg Foundation. SR and TF are supported by the Juho Vainio Foundation. MR is supported by the Research Council of Finland (grant number: 330185). KA is partially supported by the European Regional Development Fund through the Regional Council of Northern Savo (No. A80407) for the development of FOODNUTRI infrastructure and by the Joint Action on Cardiovascular Diseases and Diabetes (JACARDI), which is funded by the EU4Health Programme (Grant Agreement No. 101126953). The funder did not influence the results/outcomes of the study despite the authors affiliations with the funder.