Background and Objectives. Numerous genome-wide association studies have highlighted that chronic lymphocytic leukemia (CLL) is a lymphoproliferative disorder with an important genetic component. An important number of genes have been implicated in CLL etiology, with some of the most important being human leukocyte antigen (HLA) genes. The aim of this study was to analyze the association of CLL with certain HLA alleles in the Romanian population and to compare our results with previous findings. 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 <math xmlns="http://www.w3.org/1998/Math/MathML" id="M1"><msup><mrow /><mi>∗</mi></msup></math> 04:02:01 ( <math xmlns="http://www.w3.org/1998/Math/MathML" id="M2"><mi>p</mi><mo>=</mo><mn>0.001</mn></math> , OR = 1.05) and HLA-DRB3 <math xmlns="http://www.w3.org/1998/Math/MathML" id="M3"><msup><mrow /><mi>∗</mi></msup></math> 02:01:01 ( <math xmlns="http://www.w3.org/1998/Math/MathML" id="M4"><mi>p</mi><mo>=</mo><mn>0.009</mn></math> , OR = 1.03) have a predisposing role in CLL development. Moreover, we identified that HLA-A <math xmlns="http://www.w3.org/1998/Math/MathML" id="M5"><msup><mrow /><mi>∗</mi></msup></math> 24:02:01 0.01 ( <math xmlns="http://www.w3.org/1998/Math/MathML" id="M6"><mi>p</mi><mo>=</mo><mn>0.01</mn></math> , OR = 0.38), HLA-DQA1 <math xmlns="http://www.w3.org/1998/Math/MathML" id="M7"><msup><mrow /><mi>∗</mi></msup></math> 05:05:01 ( <math xmlns="http://www.w3.org/1998/Math/MathML" id="M8"><mi>p</mi><mo>=</mo><mn>0.01</mn></math> , OR = 0.56), HLA-DQB1 <math xmlns="http://www.w3.org/1998/Math/MathML" id="M9"><msup><mrow /><mi>∗</mi></msup></math> 03:02:01 ( <math xmlns="http://www.w3.org/1998/Math/MathML" id="M10"><mi>p</mi><mo>=</mo><mn>0.03</mn></math> , OR = 0.40), and HLA-DRB4 <math xmlns="http://www.w3.org/1998/Math/MathML" id="M11"><msup><mrow /><mi>∗</mi></msup></math> 01:03:01 ( <math xmlns="http://www.w3.org/1998/Math/MathML" id="M12"><mi>p</mi><mo>=</mo><mn>0.03</mn></math> , 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 <math xmlns="http://www.w3.org/1998/Math/MathML" id="M13"><msup><mrow /><mi>∗</mi></msup></math> 24:02:01 and HLA-DQA1 <math xmlns="http://www.w3.org/1998/Math/MathML" id="M14"><msup><mrow /><mi>∗</mi></msup></math> 05:05:01 alleles have a protective role against CLL development, whereas HLA-DRB1 <math xmlns="http://www.w3.org/1998/Math/MathML" id="M15"><msup><mrow /><mi>∗</mi></msup></math> 04:02:01 and HLA-DRB3 <math xmlns="http://www.w3.org/1998/Math/MathML" id="M16"><msup><mrow /><mi>∗</mi></msup></math> 02:01:01alleles are positively associated with CLL.

Maria Tizu

Bogdan Calenic

Mihai Hârza

Bogdan M. Cristea

Ion Maruntelu

Andreea M. Caragea

Adriana Talangescu

Alina Dima

Alexandra E. Constantinescu

Ileana Constantinescu

Genetics Research

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.

Genetical Research is a key forum for original research on all aspects of human and animal genetics. It reports key findings on genomes, genes, mutations, and molecular interactions, extending to developmental, evolutionary, and population genetics, as well as ethical, legal, and social aspects. Our aim is to enhance the understanding of genetic processes in health and disease. The journal focuses on the application of new technologies, such as next-generation sequencing and bioinformatics analysis, to produce increasingly detailed insights into how genes function in tissues and how these genes operate, both individually and collectively, in normal development and disease etiology. 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, behavioral 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 the genetic basis of diseases, as well as evolutionary and developmental studies.

《Genetical Research》是一个重要的论坛，专注于人类和动物遗传学各个方面的原创研究，报道基因组、基因、突变和分子相互作用的关键发现，涵盖发育、进化和群体遗传学，以及伦理、法律和社会方面的问题。我们的目标是加深对健康和疾病中遗传过程的理解。期刊重点关注新技术的应用，如下一代测序和生物信息学分析，以提供越来越详细的视角，了解基因在组织中的功能，以及这些基因在正常发育和疾病病因中的表现，无论是单独还是集体。期刊发表原创研究、综述文章、短篇论文、计算研究以及涵盖人类和已建立遗传生物体的研究中的新方法和技术。主要研究领域包括医学遗传学、基因组学、人类进化和群体遗传学、生物信息学、复杂性状的遗传学、分子和发育遗传学、进化发育学、定量和统计遗传学、行为遗传学和环境遗传学。研究的广度和质量使得该期刊成为医学遗传学家、分子生物学家、生物信息学家以及从事疾病遗传基础、进化和发育研究的研究人员的重要资源。

Category	Quartile
生物学	4
生物学, 遗传学	4

HLA Gene Polymorphisms in Romanian Patients with Chronic Lymphocytic Leukemia

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Category	Quartile
GENETICS & HEREDITY	4