Exploration of KIR Genes and Hematological-related Diseases in Chinese Han Population: a Multi-center Retrospective Analysis

Abstract

The function of natural killer (NK) cells has previously been implicated in hematopoietic-related diseases. Killer immunoglobulin-like receptors (KIR) play an important role in NK cells after hematopoietic stem cell transplantation. To explore the immunogenetic predisposition of hematopoiesis-related diseases, herein, a multi-center retrospective study in China was conducted, analyzing and comparing 2519 patients with hematopathy (mainly, acute lymphoblastic leukemia, acute myeloid leukemia, aplastic anemia, and myelodysplastic syndrome) to 18108 individuals without known pathology. Genotyping was performed by polymerase chain reaction with specific sequence primers (PCR-SSP). As a result, we discovered four genes including KIR2DL5 (OR: 0.74, 95% CI: 0.59–0.93; Pc = 0.0405), 2DS1 (OR: 0.74, 95% CI: 0.59–0.93; Pc = 0.0405), 2DS3 (OR: 0.58, 95% CI: 0.41–0.81; Pc = 0.0180), and 3DS1 (OR: 0.74, 95% CI: 0.58–0.94; Pc = 0.0405) to be protective factors that significantly reduce the risk of aplastic anemia. Our findings offer new approaches to immunotherapy for hematological-related diseases. As these therapies mature, they are promising to be used alone or in combination with current treatments to help to make hematopathy a manageable disease.

KIR genotype and haplotype repertoire in Kuwaiti healthy donors, hematopoietic cell transplant recipients and healthy family members

“…In contrast to people without known pathology, patients with AA and ALL were significantly more susceptible to the KIR genes ( KIR2DL5, KIR2DS1, KIR2DS3 , and KIR3DS1 for AA), and AML and MDS did not appear to be similarly affected. AML and MDS were not significantly correlated with other KIR genes, such as KIR2DL1‐KIR2DL3 , KIR3DL1‐KIR3DL3 , KIR2DS2 , KIR2DS4 , and two pseudogenes ( KIR2DP1 and KIR3DP1 ) 75 . Another study found that as compared to healthy people, MDS patients had lower frequencies of KIR2DL3 and greater frequencies of KIR2DS5 , respectively 76 .…”

“…AML and MDS were not significantly correlated with other KIR genes, such as KIR2DL1-KIR2DL3, KIR3DL1-KIR3DL3, KIR2DS2, KIR2DS4, and two pseudogenes (KIR2DP1 and KIR3DP1). 75 Another study found that as compared to healthy people, MDS patients had lower frequencies of KIR2DL3 and greater frequencies of KIR2DS5, respectively. 76 According to research findings, there was no correlation between acute AML and CML, however there was an increase in the frequency of activation of the KIR genes KIR2DS1, KIR3DS1, and KIR2DS3 in standard risk patients compared to high risk patients.…”