罗马尼亚慢性淋巴细胞白血病患者的 HLA 基因多态性。

IF 1.4 4区生物学 Q4 GENETICS & HEREDITY Genetics research Pub Date : 2024-02-28 eCollection Date: 2024-01-01 DOI:10.1155/2024/8852876

Maria Tizu, Bogdan Calenic, Mihai Hârza, Bogdan M Cristea, Ion Maruntelu, Andreea M Caragea, Adriana Talangescu, Alina Dima, Alexandra E Constantinescu, Ileana Constantinescu

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引用次数: 0

摘要

材料和方法：这项研究包括 66 名在 2020 年至 2022 年期间确诊的 CLL 患者和 100 名健康对照者。采用新一代测序技术调查了HLA I类和II类基因（HLA-A/B/C、HLA-DQA1/DQB1/DPA1/DPB1和HLA-DRB1/3/4/5）：结果：多种 HLA 等位基因与 CLL 密切相关。最重要的发现是，HLA-DRB1∗04:02:01（p=0.001，OR=1.05）和HLA-DRB3∗02:01:01（p=0.009，OR=1.03）在CLL发病中具有易感性。此外，我们还发现 HLA-A∗24:02:01 0.01（p=0.01，OR = 0.38）、HLA-DQA1∗05:05:01（p=0.01，OR = 0.56）、HLA-DQB1∗03:02:01（p=0.03，OR = 0.40）和 HLA-DRB4∗01:03:01 （p=0.03，OR = 0.54）等位基因具有保护作用。HLA表达与性别之间的相关性显示，与男性相比，女性具有更高的保护性HLA等位基因表达：我们的数据首次表明，在罗马尼亚的 CLL 患者中，HLA-A∗24:02:01 和 HLA-DQA1∗05:05:01 等位基因对 CLL 的发展具有保护作用，而 HLA-DRB1∗04:02:01 和 HLA-DRB3∗02:01:01 等位基因与 CLL 呈正相关。

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HLA Gene Polymorphisms in Romanian Patients with Chronic Lymphocytic Leukemia.

Materials and methods: This study included 66 patients with CLL, diagnosed between 2020 and 2022, and 100 healthy controls. HLA class I and class II genes (HLA-A/B/C, HLA-DQA1/DQB1/DPA1/DPB1, and HLA-DRB1/3/4/5) were investigated using next-generation sequencing technology.

Results: Several HLA alleles were strongly associated with CLL. The most important finding was that HLA-DRB1^∗04:02:01 (p=0.001, OR = 1.05) and HLA-DRB3^∗02:01:01 (p=0.009, OR = 1.03) have a predisposing role in CLL development. Moreover, we identified that HLA-A^∗24:02:01 0.01 (p=0.01, OR = 0.38), HLA-DQA1^∗05:05:01 (p=0.01, OR = 0.56), HLA-DQB1^∗03:02:01 (p=0.03, OR = 0.40), and HLA-DRB4^∗01:03:01 (p=0.03, OR = 0.54 alleles have protective roles. Correlations between HLA expression and gender showed that women had a higher expression of protective HLA alleles when compared to men.

Conclusions: Our data are the first to indicate that in Romanian patients with CLL, the HLA-A^∗24:02:01 and HLA-DQA1^∗05:05:01 alleles have a protective role against CLL development, whereas HLA-DRB1^∗04:02:01 and HLA-DRB3^∗02:01:01alleles are positively associated with CLL.

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来源期刊

Genetics research 生物-遗传学

自引率

6.70%

发文量

审稿时长

>12 weeks

期刊介绍： Genetics Research is a key forum for original research on all aspects of human and animal genetics, reporting key findings on genomes, genes, mutations and molecular interactions, extending out to developmental, evolutionary, and population genetics as well as ethical, legal and social aspects. Our aim is to lead to a better understanding of genetic processes in health and disease. The journal focuses on the use of new technologies, such as next generation sequencing together with bioinformatics analysis, to produce increasingly detailed views of how genes function in tissues and how these genes perform, individually or collectively, in normal development and disease aetiology. The journal publishes original work, review articles, short papers, computational studies, and novel methods and techniques in research covering humans and well-established genetic organisms. Key subject areas include medical genetics, genomics, human evolutionary and population genetics, bioinformatics, genetics of complex traits, molecular and developmental genetics, Evo-Devo, quantitative and statistical genetics, behavioural genetics and environmental genetics. The breadth and quality of research make the journal an invaluable resource for medical geneticists, molecular biologists, bioinformaticians and researchers involved in genetic basis of diseases, evolutionary and developmental studies.