Department of Clinical Immunology, Zealand University Hospital, Køge, Denmark.
Department of Clinical Immunology, Aarhus University Hospital, Aarhus, Denmark.
Transfusion. 2023 Dec;63(12):2297-2310. doi: 10.1111/trf.17575. Epub 2023 Nov 3.
Accurate blood type data are essential for blood bank management, but due to costs, few of 43 blood group systems are routinely determined in Danish blood banks. However, a more comprehensive dataset of blood types is useful in scenarios such as rare blood type allocation. We aimed to investigate the viability and accuracy of predicting blood types by leveraging an existing dataset of imputed genotypes for two cohorts of approximately 90,000 each (Danish Blood Donor Study and Copenhagen Biobank) and present a more comprehensive overview of blood types for our Danish donor cohort.
Blood types were predicted from genome array data using known variant determinants. Prediction accuracy was confirmed by comparing with preexisting serological blood types. The Vel blood group was used to test the viability of using genetic prediction to narrow down the list of candidate donors with rare blood types.
Predicted phenotypes showed a high balanced accuracy >99.5% in most cases: A, B, C/c, Co /Co , Do /Do , E/e, Jk /Jk , Kn /Kn , Kp /Kp , M/N, S/s, Sd , Se, and Yt /Yt , while some performed slightly worse: Fy /Fy , K/k, Lu /Lu , and Vel ~99%-98% and C and P ~96%. Genetic prediction identified 70 potential Vel negatives in our cohort, 64 of whom were confirmed correct using polymerase chain reaction (negative predictive value: 91.5%).
High genetic prediction accuracy in most blood groups demonstrated the viability of generating blood types using preexisting genotype data at no cost and successfully narrowed the pool of potential individuals with the rare Vel-negative phenotype from 180,000 to 70.
准确的血型数据对于血库管理至关重要，但由于成本原因，丹麦血库通常仅确定 43 个血型系统中的少数几个。然而，更全面的血型数据集在稀有血型分配等情况下非常有用。我们旨在通过利用现有基因型数据集（丹麦献血者研究和哥本哈根生物库）中约 90,000 人各两个队列的现有数据，调查预测血型的可行性和准确性，并为我们的丹麦献血者队列提供更全面的血型概述。
使用已知变异决定因素从基因组数组数据预测血型。通过与预先存在的血清学血型进行比较，确认预测准确性。使用 Vel 血型来测试使用遗传预测缩小稀有血型候选献血者名单的可行性。
在大多数情况下，预测表型的平衡准确性>99.5%：A、B、C/c、Co /Co、Do /Do、E/e、Jk /Jk、Kn /Kn、Kp /Kp、M/N、S/s、Sd、Se 和 Yt /Yt，而某些表型的表现略差：Fy /Fy、K/k、Lu /Lu 和 Vel99%-98%和 C 和 P96%。遗传预测在我们的队列中确定了 70 个潜在的 Vel 阴性个体，其中 64 个使用聚合酶链反应（阴性预测值：91.5%）得到确认。
大多数血型的高遗传预测准确性表明，使用现有基因型数据免费生成血型的可行性，并且成功地将稀有 Vel 阴性表型的潜在个体数量从 180,000 减少到 70。
