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探索中国汉族人群 KIR 基因与血液相关疾病

英文原题:Exploration of KIR genes and hematological-related diseases in Chinese Han population.

PubMed 2023/06/16(内容时间) Sci Rep Q1 · IF 4.9(JCR 2025)

研究概要

自然杀伤(NK)细胞的功能此前已被认为与血液相关疾病有关。

中文摘要

自然杀伤(NK)细胞的功能此前已被认为与血液相关疾病有关。杀伤细胞免疫球蛋白样受体(KIR)在造血干细胞移植后的NK细胞中发挥重要作用。为探讨血液相关疾病的免疫遗传易感性,本文在中国开展了一项多中心回顾性研究,分析并比较了2519例血液病患者(主要为急性淋巴细胞白血病、急性髓系白血病、再生障碍性贫血和骨髓增生异常综合征)与18108例无已知病变个体。采用序列特异性引物聚合酶链反应(PCR-SSP)进行基因分型。结果,我们发现四个基因,包括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)和3DS1(OR:0.74,95% CI 0.58-0.94;Pc = 0.0405),是显著降低再生障碍性贫血风险的保护因素。我们的发现为血液相关疾病的免疫治疗提供了新途径。随着这些疗法成熟,它们有望单独使用或与当前治疗联合使用,以帮助使血液病成为一种可控的疾病。

展开英文摘要原文

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 hematological-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 18,108 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 blood disorders a manageable disease.

论文信息

作者
Li YM、Li YX、Hu XZ、Li DY、An L、Yuan ZY、Liu ZL、Du KM
第一作者单位
Shanghai Tissuebank Biotechnology Co, Ltd, Shanghai, China.China
通讯作者单位
Shanghai Tissuebank Biotechnology Co, Ltd, Shanghai, China. ZZZ@catb.org.cn.China
文献类型
非美国政府资助研究
期刊
Scientific reports2023 Jun 16
原文标识
PubMed 37328612 · DOI 10.1038/s41598-023-36882-y