Inhibitory and activatory KIR gene frequencies in the Polish population

Abstract

Killer cell immunoglobulin-like receptors (KIRs) present on natural killer cells and minor subpopulations of T cells recognize class I human leukocyte antigen (HLA) molecules on the surface of target cells. Human individuals differ by the presence or absence of some KIR genes on their chromosomes (haplotypic polymorphism). As KIRs (especially two-immunoglobulin-domain-like containing, or KIR2D, molecules) are important for the outcome of tissue (particularly for haematopoietic stem cell) transplantation and possibly for pregnancy, the knowledge of KIR gene distribution in a given human population is of practical value. Therefore, we tested 175 healthy individuals from Poland for the presence or absence of these KIR genes which show haplotypic polymorphism and are expressed. Results were compared with those published for other human populations, showing close relations with other Caucasoids.

Association of KIR2DS4 and its variant KIR1D with leukemia

“…6 In our study, the frequency of KIR1D was similar for patients and controls. However, in a setting of CML, the presence of KIR1D in the absence of KIR2DS4n001 was detected significantly more frequently in patients compared to their donors (77.4 vs 51.6%, P ¼ 0.03).…”

“…As previously reported, the distribution of KIR genes among these two populations is very similar. 6 The frequencies of various allele combinations in patients, donors and population controls are listed in Table 1. The intact KIR2DS4n001 was present in 20% of leukemia patients compared to 33.3% among the donors (P ¼ 0.04).…”

Associations of killer cell immunoglobulin-like receptor genes with complications of rheumatoid arthritis

“…Originally, our typing using primers described by Łuszczek et al 18,19 revealed relatively high representation of unusual genotype containing KIR2DL3 gene in the absence of KIR2DL1. Retyping of all KIR2DL1-negative samples with recently described primers 20 revealed the presence of KIR2DL1 gene in all KIR2DL3-positive samples, whereas KIR2DL3-negative individuals persisted negative expect for one 2DL1 þ 2DL3 À control person.…”

“…18,19 Samples typed negative for KIR2DL1 were retyped using new primers of Vilches et al 20 Statistical analysis Differences between controls, patients and patient subgroups were estimated using the two-tailed Fisher's exact test and GraphPad InStat 3 software. The correction of P-values (if o0.05) for the number of comparisons (11 genes and 7 or 3 subgroups of patients) was calculated using the formula of Svejgaard and Ryder.…”

Receptor systems controlling natural killer cell function are genetically stratified in Europe

“…52 PCR-SSOP was carried out to confirm the presence or absence of KIR genes in Northern and Republic of Ireland populations as previously described. KIR gene and genotype frequencies of an additional 36 global population (4218 individuals from 38 different studies) were obtained from the published literature (35 populations [31][32][33]46,48,49,[53][54][55][56][57][58][59][60][61][62][63][64][65][66][67][68][69][70][71] ) and from an online database www.allelefrequencies.net. 72 Genotypes were classified as follows: the absence of 2DL2, 2DL5, 3DS1, 2DS1, 2DS2, 2DS3 or 2DS5 indicates that an individual is homozygous for the A genotype (that is, AA).…”