Journal article
Imputation of KIR Types from SNP Variation Data
D Vukcevic, JA Traherne, S Næss, E Ellinghaus, Y Kamatani, A Dilthey, M Lathrop, TH Karlsen, A Franke, M Moffatt, W Cookson, J Trowsdale, G McVean, S Sawcer, S Leslie
American Journal of Human Genetics | Published : 2015
Abstract
Large population studies of immune system genes are essential for characterizing their role in diseases, including autoimmune conditions. Of key interest are a group of genes encoding the killer cell immunoglobulin-like receptors (KIRs), which have known and hypothesized roles in autoimmune diseases, resistance to viruses, reproductive conditions, and cancer. These genes are highly polymorphic, which makes typing expensive and time consuming. Consequently, despite their importance, KIRs have been little studied in large cohorts. Statistical imputation methods developed for other complex loci (e.g., human leukocyte antigen [HLA]) on the basis of SNP data provide an inexpensive high-throughput..
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Awarded by Wellcome Trust
Funding Acknowledgements
We wish to thank Chris Johnson, Wei Jiang, and Jyothi Jayaraman for their contributions to developing the lab-based KIR typing process and data generation, Sandra Maksimovic for assisting with the web-based implementation, Bente Woldseth for technical assistance, and Johannes Hov for helpful discussions. This work was supported by Australian National Health and Medical Research Council (NHMRC) Career Development Fellowship ID 1053756 (S.L.), Victorian Life Sciences Computation Initiative (VLSCI) grant VR0240 on its Peak Computing Facility at the University of Melbourne, an initiative of the Victorian Government of Australia (S.L.), UK Multiple Sclerosis Society grant 894/08 (S.S.), the German Ministry of Education and Research (BMBF) program e:Med sysINFLAME (A.F.), the Peter Hans Hofschneider Professorship of the "Stiftung Experimentelle Biomedizin" in Zurich (A.F.), and the Wellcome Trust and Medical Research Council (MRC) with partial funding from the National Institute of Health Cambridge Biomedical Research Centre (J.T. and J.A.T.). Research at the Murdoch Childrens Research Institute was supported by the Victorian Government's Operational Infrastructure Support Program, and further infrastructure support was provided by the Deutsche Forschungsgemeinschaft (DFG) Cluster of Excellence "Inflammation at Interfaces." S.L., G.M., and A.D. are founders and partners in Peptide Groove LLP.