Complex diseases, such as lung disease, diabetes, heart disease, and cancer, are affected by a combination of people’s genes and environmental factors/variables. While genetic influences are passed through the family and are written into our DNA, environmental factors are made up of a combination of external and lifestyle choices.
Understanding the effect of genes on complex diseases could lead to better ways of preventing and treating these diseases. However, the variety and abundance of environmental factors make it difficult to investigate the part that genes play in potentiating the risk for these diseases.
Enter the Viking Genes studies.
Viking Genes is a research project composed of three studies that have been conducted over 15 years: VIKING II, VIKING Health Study – Shetland, and the Orkney Complex Disease Study. The studies search for genes that influence the risk for various complex chronic diseases, by studying the genetics of people with at least two grandparents from Shetland and Orkney in Scotland. In the first 2 studies, the research team aimed at recruiting 4,000 study participants; and in the 3rd study, they sought to double the number of participants to 8,000. Using current and historical records, along with DNA extracted from blood and saliva samples, the research team planned to create the participants’ family trees and research the genetic history of the Northern Isles and how these genetic data relate to other populations worldwide.
In the next few paragraphs, we further detail the three studies and update you on how the third study survived despite the COVID-19 worldwide pandemic and its lockdowns requirements.
Study 1: Orkney Complex Disease Study (ORCADES)
The Orkney Complex Disease Study (ORCADES) recruited volunteers between 2005 – 2011 and aimed at discovering the genes and variants that potentiate the risk for common, complex diseases.
As many of these diseases run in families, the research team centered their attention on participants who had at least two Orcadian grandparents. Orkney is an isolated archipelago, off the northeastern coast of Scotland. Studying isolated populations is favorable for identifying genes, including access to information on the inheritance of variants through a family.
In March 2011, six years into the study and data collection, the research team recruited 2,080 volunteer participants. Volunteers attended a venipuncture clinic to give a blood sample; and when volunteers could not donate blood, in a small number of cases, saliva was collected instead, using the Oragene•DNA saliva collection kits. Participants also attended a cardiovascular measurement clinic, as part of the ORCADES Cardiovascular Study. Most volunteers attended additional clinics, as part of the ORCADES Bone and Eye Studies, where they underwent bone scans to determine bone strength and fat distribution. Participants also went through cognitive-function testing and eye measurements.
Study 2: Viking I - VIKING Health Study - Shetland
The Viking Health Study took place in Shetland, a group of islands north of the Scottish mainland and carried on the aim of the first study; discovering the genes and variants that potentiate the risk for common, complex diseases.
The team aimed at finding culprit genes that increase the risk for complex diseases as a first step to developing new diagnostics and therapies.
The research team recruited 2,105 volunteer participants between March 2013 and March 2015, applying the same criteria of at least two grandparents, but this time from Shetland. Participants completed a mail-in health questionnaire and attended a two-hour measurement clinic. They also attended a 20-minute venipuncture clinic to provide a blood sample and where volunteers could not provide a blood sample, a small number supplied a saliva sample.
Study 3: Viking II
VIKING II is the third and most recent study. Its purpose has been to achieve a better understanding of what might cause complex diseases, such as heart disease, eye disease, stroke, diabetes, among others.
Professor Jim Wilson, from the University of Edinburgh, sought to recruit an additional 4,000 participants to bring the total number of studies’ participants to 8,000 from Orkney and Shetland.
This time around, Prof. Wilson adopted a different approach, requesting participants to complete a questionnaire and provide a saliva (spit) sample, using Oragene•DNA saliva self-collection kits.
Overview of what participants should expect if they choose to sign up for the Viking II study. Image used with permission.
Source: Viking Genes website: https://www.ed.ac.uk/viking/volunteer-for-viking/whats-viking-ii-whats-involved
Accessed on February 1, 2022
Launched in January 2020, the study faced imminent delay due to the COVID-19 worldwide pandemic and the governments’ imposed large-scale lockdowns. The team implemented a new workflow that eliminated the need for participants’ travel to clinics, invasive collection of blood samples, and any actual in-person contact with researchers or lab technicians. Indeed, the new protocol allowed participants to provide adequate saliva samples from the comfort of their own homes wherever they are in the world through internet access and mail service.
Oragene•DNA saliva collections kits – the success factor
The Oragene•DNA saliva collection kits offer researchers and study participants several benefits, including ease of use and a non-invasive collection method that yields high quality and quantity DNA. The high participants’ compliance, as measured by the rate of sample returns, could largely be attributed to the ease of use of the Oragene•DNA saliva collection kits.
In this study, the saliva collection kits helped conduct a study that would otherwise have been unachievable during a severe worldwide pandemic that required lockdowns and limited people’s travel and movement. Participants received the kits, followed the saliva collection instructions, and mailed the sample back to the research team. Assured of the Oragene•DNA kits’ long shelf-life, participants could take their time returning the sample in case of extended lockdown restrictions.
The research team was pleased to know that DNA extracted from saliva collected with the Oragene•DNA kits was stable at ambient temperatures, relieving their angst about delays in sample shipping or in extraction due to the COVID-19 pandemic, and that the yield and integrity of the extracted DNA was intact.
Study results have also started to emerge. Collaborations with NHS clinical geneticists have begun to reveal the implications of the unique gene pools of the Orkney and Shetland populations. The study revealed a higher frequency of certain ‘actionable’ variants; and following the initial study of a rare variant in the sequence of a gene that is known to be important in the control of heart rhythm (Long QT Syndrome), the team has moved to a broader survey of rare variants in the Orkney and Shetland populations. Dr. Jim Wilson continues to be at the forefront of applying genomic medicine through the approved return of actionable genetic findings in the Viking Genes study.