Oragene tubes

As reported^{8 (link)}, family-based recruitment was from an Australian Aboriginal community of Martu ancestry⁴⁵ from Western Australia. A memorandum of understanding with the community included permission for access to clinical records (e.g. QT and clinical phenotype data, as below) held in a Communicare database at the local Aboriginal Health Service. Ethical approval was obtained from, and all protocols approved by, the Western Australian Aboriginal Health Ethics Committee (WAAHEC; Reference 227 12/12). The study was carried out in accordance with the Declaration of Helsinki Principles, and each participant, or the parent/guardian of individuals <18 years old, signed informed consent forms to participate in the study and provide a DNA sample. DNA was prepared from saliva samples collected into Oragene tubes (DNA Genotek, Ontario, Canada) from 405 consenting family members. All procedures were also carried out in accordance with established institutional standard operating procedures for working with human samples. Following feedback to the community, permission to publish was provided by the Board of the local Aboriginal Health Service, which comprised elders representing the extended families residing in the area.

Subjects for the discovery GWAS were recruited from an Australian Aboriginal community of Martu ancestry [17 , 18 ] at the edge of the Western Desert in Western Australia. A family-based study was proposed to take account of recent population history and shared ancestry. A memorandum of understanding (MoU) was established with the community, which included permission for access to clinical records held in a Communicare database at the local Aboriginal Health Service. An individual was classified as having T2D if the subject was: (1) diagnosed with T2D by a qualified physician; (2) on a prescribed drug treatment regimen for T2D; and (3) returned biochemical test results of a fasting plasma glucose level of at least 7 mmol/l in SI units based on criteria laid down by the World Health Organization (WHO) consultation group report [19 (link)]. Multiple height and weight measures per individual were recorded in Communicare through time and converted within the database to BMI according to the standard formula BMI = weight (kg)/height (m²). DNA was prepared from saliva samples collected into Oragene tubes (DNA Genotek, Ontario, Canada) from 405 consenting family members who were available at the time of visits by the study team during the two-year collection period of the study.