PMID- 26430804 OWN - NLM STAT- MEDLINE DCOM- 20160105 LR - 20221111 IS - 1537-6605 (Electronic) IS - 0002-9297 (Print) IS - 0002-9297 (Linking) VI - 97 IP - 4 DP - 2015 Oct 1 TI - Imputation of KIR Types from SNP Variation Data. PG - 593-607 LID - S0002-9297(15)00369-9 [pii] LID - 10.1016/j.ajhg.2015.09.005 [doi] AB - 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 alternative to direct laboratory typing of these loci and have enabled important findings and insights for many diseases. We present KIR *IMP, a method for imputation of KIR copy number. We show that KIR *IMP is highly accurate and thus allows the study of KIRs in large cohorts and enables detailed investigation of the role of KIRs in human disease. CI - Copyright (c) 2015 The Authors. Published by Elsevier Inc. All rights reserved. FAU - Vukcevic, Damjan AU - Vukcevic D AD - Statistical Genetics, Murdoch Childrens Research Institute, Parkville, VIC 3052, Australia; School of Mathematics and Statistics, University of Melbourne, Parkville, VIC 3010, Australia. FAU - Traherne, James A AU - Traherne JA AD - Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Division of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK. FAU - Naess, Sigrid AU - Naess S AD - Research Institute of Internal Medicine, Department of Cancer Medicine, Surgery, and Transplantation, Oslo University Hospital Rikshospitalet, Postboks 4950, Nydalen, 0424 Oslo, Norway; Norwegian PSC Research Center, Division of Cancer, Surgery, and Transplantation, Oslo University Hospital, Postboks 4950, Nydalen, 0424 Oslo, Norway. FAU - Ellinghaus, Eva AU - Ellinghaus E AD - Institute of Clinical Molecular Biology, Christian-Albrechts University of Kiel, Schittenhelmstrasse 12, 24105 Kiel, Germany. FAU - Kamatani, Yoichiro AU - Kamatani Y AD - Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain, 27 Rue Juliette Dodu, 75010 Paris, France; RIKEN Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Kanagawa 230-0045, Japan. FAU - Dilthey, Alexander AU - Dilthey A AD - Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK. FAU - Lathrop, Mark AU - Lathrop M AD - McGill University and Genome Quebec Innovation Centre, Montreal, 740 Dr. Penfield Avenue, Room 7104, Montreal, QC H3A 0G1, Canada; Fondation Jean Dausset, Centre d'Etude du Polymorphisme Humain, 27 Rue Juliette Dodu, 75010 Paris, France. FAU - Karlsen, Tom H AU - Karlsen TH AD - Research Institute of Internal Medicine, Department of Cancer Medicine, Surgery, and Transplantation, Oslo University Hospital Rikshospitalet, Postboks 4950, Nydalen, 0424 Oslo, Norway; K.G. Jebsen Inflammation Research Centre, Institute of Clinical Medicine, University of Oslo, Postboks 1171, Blindern, 0318 Oslo, Norway. FAU - Franke, Andre AU - Franke A AD - Institute of Clinical Molecular Biology, Christian-Albrechts University of Kiel, Schittenhelmstrasse 12, 24105 Kiel, Germany. FAU - Moffatt, Miriam AU - Moffatt M AD - National Heart and Lung Institute, Imperial College London, Royal Brompton Campus, Dovehouse Street, London SW3 6LY, UK. FAU - Cookson, William AU - Cookson W AD - National Heart and Lung Institute, Imperial College London, Royal Brompton Campus, Dovehouse Street, London SW3 6LY, UK. FAU - Trowsdale, John AU - Trowsdale J AD - Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK; Division of Immunology, Department of Pathology, University of Cambridge, Cambridge CB2 1QP, UK. FAU - McVean, Gil AU - McVean G AD - Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK. FAU - Sawcer, Stephen AU - Sawcer S AD - Department of Clinical Neurosciences, University of Cambridge, Cambridge CB2 0QQ, UK. FAU - Leslie, Stephen AU - Leslie S AD - Statistical Genetics, Murdoch Childrens Research Institute, Parkville, VIC 3052, Australia; School of Mathematics and Statistics, University of Melbourne, Parkville, VIC 3010, Australia. Electronic address: stephen.leslie@mcri.edu.au. LA - eng GR - G0901682/MRC_/Medical Research Council/United Kingdom GR - 100956/WT_/Wellcome Trust/United Kingdom GR - 097117/WT_/Wellcome Trust/United Kingdom GR - WT_/Wellcome Trust/United Kingdom GR - 100140/WT_/Wellcome Trust/United Kingdom PT - Comparative Study PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Am J Hum Genet JT - American journal of human genetics JID - 0370475 RN - 0 (Receptors, KIR) SB - IM MH - Asthma/*genetics MH - Case-Control Studies MH - Cohort Studies MH - DNA Copy Number Variations/*genetics MH - Dermatitis, Atopic/*genetics MH - Europe MH - Family MH - Female MH - *Genetic Predisposition to Disease MH - Genotype MH - High-Throughput Nucleotide Sequencing MH - Humans MH - Male MH - Polymorphism, Single Nucleotide/*genetics MH - Receptors, KIR/*classification/*genetics MH - Sequence Analysis, DNA PMC - PMC4596914 EDAT- 2015/10/03 06:00 MHDA- 2016/01/06 06:00 PMCR- 2016/04/01 CRDT- 2015/10/03 06:00 PHST- 2015/04/20 00:00 [received] PHST- 2015/09/08 00:00 [accepted] PHST- 2015/10/03 06:00 [entrez] PHST- 2015/10/03 06:00 [pubmed] PHST- 2016/01/06 06:00 [medline] PHST- 2016/04/01 00:00 [pmc-release] AID - S0002-9297(15)00369-9 [pii] AID - 10.1016/j.ajhg.2015.09.005 [doi] PST - ppublish SO - Am J Hum Genet. 2015 Oct 1;97(4):593-607. doi: 10.1016/j.ajhg.2015.09.005.