Abstract
BackgroundKiller cell immunoglobulin-like receptors (KIRs) are a family of inhibitory and activatory receptors that are expressed by most natural killer (NK) cells. The KIR gene family is polymorphic: genomic diversity is achieved through differences in gene content and allelic polymorphism. The number of KIR loci has been reported to vary among individuals, resulting in different KIR haplotypes. In this study we report the genotypic structure of KIRs in 217 unrelated healthy Italian individuals from 22 immunogenetics laboratories, located in the northern, central and southern regions of Italy.MethodsTwo hundred and seventeen DNA samples were studied by a low resolution PCR-SSP kit designed to identify all KIR genes.ResultsAll 17 KIR genes were observed in the population with different frequencies than other Caucasian and non-Caucasian populations; framework genes KIR3DL3, KIR3DP1, KIR2DL4 and KIR3DL2 were present in all individuals. Sixty-five different profiles were found in this Italian population study. Haplotype A remains the most prevalent and genotype 1, with a frequency of 28.5%, is the most commonly observed in the Italian population.ConclusionThe Italian Caucasian population shows polymorphism of the KIR gene family like other Caucasian and non-Caucasian populations. Although 64 genotypes have been observed, genotype 1 remains the most frequent as already observed in other populations. Such knowledge of the KIR gene distribution in populations is very useful in the study of associations with diseases and in selection of donors for haploidentical bone marrow transplantation.
Highlights
Killer cell immunoglobulin-like receptors (KIRs) are a family of inhibitory and activatory receptors that are expressed by most natural killer (NK) cells
The presence of a long cytoplasmatic tail with two immune tyrosine-based inhibitory motifs (ITIMs) allows the transduction of inhibitory signals and characterizes the inhibitory KIRs (2DL, 3DL), whereas the presence of short cytoplasmatic tails corresponds to the activating KIR receptors (2DS, 3DS) [1,2,3,4]
KIR2DS4 gene was present in a high percentage in the Italian population; the expression of allele *003 which identifies the gene variant was present in 89% of subjects studied, as compared to alleles *001 and *002, which are only represented in 33% of the population [21]
Summary
Killer cell immunoglobulin-like receptors (KIRs) are a family of inhibitory and activatory receptors that are expressed by most natural killer (NK) cells. Killer cell immunoglobulin-like receptors (KIRs) are glycoproteins expressed on the cell surface of natural killer (NK) and subsets of T cells. These polymorphic receptors interact with specific motifs on HLA class I molecules, modulate NK cytolytic activity and are encoded by genes located on chromosome 19q13.4 [1,2,3]. They have been divided into distinct groups, depending on the number of external immunoglobulin domains (2D or 3D). Studies on KIR genes in different populations, along with HLA system evaluations, can provide valuable information about the history and geography of human genes, while a wide range of genotypes may be expected in the human populations [5,6,7,8]
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