Imputation of KIR Types from SNP Variation Data
File(s)
Published version
Author(s)
Type
Journal Article
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 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.
Date Issued
2015-10-01
Date Acceptance
2015-09-08
Citation
American Journal of Human Genetics, 2015, 97 (4), pp.593-607
ISSN
1537-6605
Publisher
Elsevier
Start Page
593
End Page
607
Journal / Book Title
American Journal of Human Genetics
Volume
97
Issue
4
Copyright Statement
This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
License URL
Sponsor
Wellcome Trust
Grant Number
097117/Z/11/Z
Subjects
Science & Technology
Life Sciences & Biomedicine
Genetics & Heredity
CLASSICAL HLA ALLELES
NK CELL RECEPTORS
DISEASE
SUSCEPTIBILITY
LIGANDS
ERAP1
RISK
LOCI
Asthma
Case-Control Studies
Cohort Studies
DNA Copy Number Variations
Dermatitis, Atopic
Europe
Family
Female
Genetic Predisposition to Disease
Genotype
High-Throughput Nucleotide Sequencing
Humans
Male
Polymorphism, Single Nucleotide
Receptors, KIR
Sequence Analysis, DNA
06 Biological Sciences
11 Medical And Health Sciences
Publication Status
Published