Advanced Research of HLA in Diseases

A special issue of Biomedicines (ISSN 2227-9059). This special issue belongs to the section "Molecular Genetics and Genetic Diseases".

Deadline for manuscript submissions: closed (30 April 2024) | Viewed by 2245

Special Issue Editor


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Guest Editor
1. Immunology and Transplant Immunology, Carol Davila University of Medicine and Pharmacy, 020021 Bucharest, Romania
2. Centre of Immunogenetics and Virology, Fundeni Clinical Institute, 022328 Bucharest, Romania
Interests: immunology; molecular biology; virology

Special Issue Information

Dear Colleagues,

The HLA gene cluster is highly polymorphic and strongly associated with various immune diseases. HLA controls the immune response by encoding important antigen-presenting markers and other proteins of the innate and adaptative immune system.

Recently, scientific research has established strong relationships between specific HLA alleles and different diseases. Early studies focused on the relationship between ankylosing spondylitis and HLA-B*27 underlying the immunogenetic background of this disorder.

Other works have demonstrated connections between HLA genes and autoimmune diseases ( i.e., Celiac disease: HLA-DQA1*05:01, HLA-DQB1*02:01, HLA-DQB1*02:02).

In Crohn's disease, the revealed HLA allele profile was DRB104:05, DRB104:10, DQA103, DQB104:01, and DQB1 04:02.

The HLA gene complex has also been positively associated with the risk of infectious disease onset and development like in chronic hepatitis C virus infection: HLA A*23:01, B*44:02, C*04:02.

Other significant associations include examples like chronic renal diseases: B*40, C*12, C*15, and DRB1*14.

Chronic lymphocytic leukemia has been associated with HLA-DRB1*04:02:01 and HLA-DRB3*02:01:01. HLA-B*57:01 is associated with drug hypersensitivity to carbamazepine and abacavir. This is clinically relevant for treatment selection.

This evidence illustrates the significant role of HLA genes in diseases, both in terms of diagnostics and treatment response. Further research is needed for a better understanding of the molecular mechanisms underlying these associations with specific HLA molecules.

Prof. Dr. Ileana Constantinescu
Guest Editor

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Published Papers (2 papers)

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Research

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13 pages, 244 KiB  
Article
HLA Association among Thai Patients with Diffuse and Limited Cutaneous Systemic Sclerosis
by Worawit Louthrenoo, Nuntana Kasitanon, Antika Wongthanee, Yuko Okudaira, Asuka Takeuchi, Hiroshi Noguchi, Hidetoshi Inoko and Fujio Takeuchi
Biomedicines 2024, 12(6), 1347; https://doi.org/10.3390/biomedicines12061347 - 18 Jun 2024
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Abstract
This study aimed to clarify the association of HLA Class I and II with dcSSc and lcSSc in Thais. HLA typing for 11 gene loci (Class I: HLA-A, B and C, and Class II [HLA-DR, DP and DQ]) was carried out using the [...] Read more.
This study aimed to clarify the association of HLA Class I and II with dcSSc and lcSSc in Thais. HLA typing for 11 gene loci (Class I: HLA-A, B and C, and Class II [HLA-DR, DP and DQ]) was carried out using the Next Generation DNA Sequencing method (three fields) in 92 Thai patients with systemic sclerosis (55 dcSSc, 37 lcSSc) and 135 healthy controls (HCs). The distribution of HLA alleles in patients with dcSSc and lcSSc was compared. When compared with HCs, the AF of A*24:02:01, A*24:07:01, B*27:04:01 and B*27:06 showed an increasing trend in lcSSc patients without statistical significance. DRB1*15:02:01, DRB5*01:02:01, DQA1*01:01:01, DQB1*05:01:24, DPA1*02:01:01 and DPB1*13:01:01 increased significantly in dcSSc patients. DQB1*05:01:24 and DPB1*13:01:01 also increased significantly in lcSSc patients, but less significantly than in dcSSc patients. The association of DPB1*05:01:01 with lcSSc was significantly protective. HLA-A*24:02:01, B*27:06 and C*03:04:01 formed a three-locus haplotype that also constituted an eight-locus haplotype with DRB1*15:02:01, DQA1*01:01:01, DQB1*05:01:24, DPA1*02:01:01 and DPB1*13:01:01. There was a possibility that HLA Class I would play a role in the pathogenesis of lcSSc, while Class II played more of a role in the dcSSc in Thai patients. Full article
(This article belongs to the Special Issue Advanced Research of HLA in Diseases)

Review

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16 pages, 1633 KiB  
Review
Unveiling the Significance of HLA and KIR Diversity in Underrepresented Populations
by Lucía Santiago-Lamelas, Patricia Castro-Santos, Ángel Carracedo, Jordi Olloquequi and Roberto Díaz-Peña
Biomedicines 2024, 12(6), 1333; https://doi.org/10.3390/biomedicines12061333 - 15 Jun 2024
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Abstract
Human leukocyte antigen (HLA) molecules and their relationships with natural killer (NK) cells, specifically through their interaction with killer-cell immunoglobulin-like receptors (KIRs), exhibit robust associations with the outcomes of diverse diseases. Moreover, genetic variations in HLA and KIR immune system genes offer limitless [...] Read more.
Human leukocyte antigen (HLA) molecules and their relationships with natural killer (NK) cells, specifically through their interaction with killer-cell immunoglobulin-like receptors (KIRs), exhibit robust associations with the outcomes of diverse diseases. Moreover, genetic variations in HLA and KIR immune system genes offer limitless depths of complexity. In recent years, a surge of high-powered genome-wide association studies (GWASs) utilizing single nucleotide polymorphism (SNP) arrays has occurred, significantly advancing our understanding of disease pathogenesis. Additionally, advances in HLA reference panels have enabled higher resolution and more reliable imputation, allowing for finer-grained evaluation of the association between sequence variations and disease risk. However, it is essential to note that the majority of these GWASs have focused primarily on populations of Caucasian and Asian origins, neglecting underrepresented populations in Latin America and Africa. This omission not only leads to disparities in health care access but also restricts our knowledge of novel genetic variants involved in disease pathogenesis within these overlooked populations. Since the KIR and HLA haplotypes prevalent in each population are clearly modelled by the specific environment, the aim of this review is to encourage studies investigating HLA/KIR involvement in infection and autoimmune diseases, reproduction, and transplantation in underrepresented populations. Full article
(This article belongs to the Special Issue Advanced Research of HLA in Diseases)
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