Blood donor biobank as a resource in personalized biomedical genetic research

Abstract Backround Health questionnaires and donation criteria result to accumulation of highly selected individuals in blood donor population. To understand better the usefulness of blood donor-based biobank in personalised disease-associated genetic studies and for possible personalised blood donation policies we evaluated the occurrence and distributions of common and rare disease-associated genetic variants in Finnish Blood Service Biobank. Methods We analysed among 31,880 blood donors the occurrence and geographical distribution of (i) 53 rare Finnish enriched disease-associated variants, (ii) mutations assumed to influence blood donation: four Bernard-Soulier syndrome and two hemochromatosis mutations, (iii) type I diabetes risk genotype HLA-DQ2/DQ8. In addition, we analysed the level of consanguinity in Blood Service Biobank. Results 80.3% of blood donors carried at least one (range 0–9 per donor) of the rare variants, many in homozygous form as well. Donors carrying multiple rare variants were enriched in the Eastern Finland. Haemochromatosis mutation HFE C282Y homozygosity was 43.8% higher than expected, whereas mutations leading to Bernard-Soulier thrombocytopenia were rare. The frequency of HLA-DQ2/DQ8 genotype was slightly lower than in the general population. First-degree consanguinity was higher in Blood Service Biobank than in the general population. Conclusion We demonstrate that despite donor selection the Blood Service Biobank is a valuable resource for personalised medical research and for genotype-selected samples from unaffected individuals. Geographical genetic substructure of Finland enables efficient recruitment of donors carrying rare variants. Furthermore, we show that blood donor biobank material can be utilized for personalized blood donation policies.