PMID- 18370147 OWN - NLM STAT- MEDLINE DCOM- 20080619 LR - 20240105 IS - 1064-3745 (Print) IS - 1940-6029 (Electronic) IS - 1064-3745 (Linking) VI - 415 DP - 2008 TI - KIR locus polymorphisms: genotyping and disease association analysis. PG - 49-64 LID - 10.1007/978-1-59745-570-1_3 [doi] AB - The genes encoding the killer immunoglobulin-like receptors (KIR) are situated within a segment of DNA that has undergone expansion and contraction over time due in large part to unequal crossing over. Consequently, individuals exhibit considerable haplotypic variation in terms of gene content. The highly polymorphic human leukocyte antigen (HLA) class I loci encode ligands for the KIR; thus, it is not surprising that KIR genes also show significant allelic polymorphism. As a result of the receptor-ligand relationship between KIR and HLA, functionally relevant KIR-HLA combinations need to be considered in the analysis of these genes as they relate to disease outcomes. This chapter will describe a genotyping method for identifying the presence/absence of the KIR genes and general approaches to data analysis in disease association studies. FAU - Martin, Maureen P AU - Martin MP AD - Laboratory of Genomic Diversity, SAIC-Frederick, Inc., NCI-Frederick, Frederick, MD, USA. FAU - Carrington, Mary AU - Carrington M LA - eng GR - N01CO12400/CA/NCI NIH HHS/United States GR - Z01 BC010791/ImNIH/Intramural NIH HHS/United States GR - N01-CO-12400/CO/NCI NIH HHS/United States PT - Journal Article PT - Research Support, N.I.H., Extramural PT - Research Support, N.I.H., Intramural PL - United States TA - Methods Mol Biol JT - Methods in molecular biology (Clifton, N.J.) JID - 9214969 RN - 0 (KIR2DS4 protein, human) RN - 0 (Receptors, KIR) SB - IM MH - Arthritis, Psoriatic/genetics MH - Electrophoresis, Agar Gel MH - *Genetic Predisposition to Disease MH - Haplotypes MH - Humans MH - Polymerase Chain Reaction MH - *Polymorphism, Genetic MH - Receptors, KIR/*genetics PMC - PMC10763752 MID - NIHMS1949004 EDAT- 2008/03/29 09:00 MHDA- 2008/06/20 09:00 PMCR- 2024/01/03 CRDT- 2008/03/29 09:00 PHST- 2008/03/29 09:00 [pubmed] PHST- 2008/06/20 09:00 [medline] PHST- 2008/03/29 09:00 [entrez] PHST- 2024/01/03 00:00 [pmc-release] AID - 10.1007/978-1-59745-570-1_3 [doi] PST - ppublish SO - Methods Mol Biol. 2008;415:49-64. doi: 10.1007/978-1-59745-570-1_3.