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Abstract
Background The association studies of killer cell immunoglobulin-like receptors (KIRs) with the occurrence of myelodysplastic syndromes (MDS) are limited worldwide; this study investigated the genetic risk/protective factors of MDS in KIR and human leucocyte antigen (HLA) systems to gain a better understanding of the role played by KIR and their cognate HLA ligands in MDS pathogenesis. Methods We genotyped a total number of 77 patients with MDS from Chinese Southern Han and 745 healthy controls for the KIR loci and HLA class I. The carrier frequencies of KIR genes, KIR genotypes, class I HLA ligands, and KIR-HLA combinations were calculated by direct counting. The effect of individual KIR genes and HLA ligands on MDS risk was evaluated by logistic regression analyses using SAS 9.2 software. Results We found that neither the KIR genes nor the KIR genotypes were associated with the occurrence of MDS. However, we observed that the frequencies for the strong inhibitory ligand HLA-Bw4 as well as KIR3DL1-HLA-Bw4 combination were significantly higher in healthy controls than those in the MDS patient group, respectively (73.42% vs. 62.34%, P = 0.038; 70.87% vs. 59.74%, P = 0.043). Conclusion Our results showed that HLA-Bw4 ligand and KIR3DL1-HLA-Bw4 combination could confer a protective effect against MDS in Chinese Southern Han.
Highlights
Natural killer (NK) cells are a key component of the innate immune system and play an important role in antitumor surveillance [1]
Whether Killer cell immunoglobulin-like receptor human leucocyte antigen (HLA) (KIR) AA genotype that carried more KIR inhibitory genes might play a similar role in immune surveillance of myelodysplastic syndromes (MDS)? The present study investigated the frequencies of KIR genes, KIR genotypes, class I HLA ligands, and KIR-HLA combinations with an aim to provide clues for better understanding pathogenesis of MDS in Chinese Southern Han
We further tested the distribution of the KIR AA vs. Bx genotypes (x represents haplotype A or B) in patients and controls; the frequency of KIR AA showed no significant difference between the healthy controls and the MDS patients (55.30% vs. 51.95%, P = 0:573; Table 1 and Figure 1)
Summary
Natural killer (NK) cells are a key component of the innate immune system and play an important role in antitumor surveillance [1]. The association studies of killer cell immunoglobulin-like receptors (KIRs) with the occurrence of myelodysplastic syndromes (MDS) are limited worldwide; this study investigated the genetic risk/protective factors of MDS in KIR and human leucocyte antigen (HLA) systems to gain a better understanding of the role played by KIR and their cognate HLA ligands in MDS pathogenesis. We genotyped a total number of 77 patients with MDS from Chinese Southern Han and 745 healthy controls for the KIR loci and HLA class I. We observed that the frequencies for the strong inhibitory ligand HLA-Bw4 as well as KIR3DL1-HLA-Bw4 combination were significantly higher in healthy controls than those in the MDS patient group, respectively (73.42% vs 62.34%, P = 0:038; 70.87% vs 59.74%, P = 0:043). Our results showed that HLA-Bw4 ligand and KIR3DL1-HLA-Bw4 combination could confer a protective effect against MDS in Chinese Southern Han
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