A novel HLA-C*17 variant, HLA-C*17:01:01:29, identified in a healthy individual from Greece.

HLA-C*17:01:01:29 differs from the HLA-C*17:01:01:05 allele by one nucleotide substitution in the 3'UTR.

A novel HLA-C*04 variant, HLA-C*04:01:01:174, identified in a healthy individual from Greece.

HLA-C*04:01:01:174 differs from the HLA-C*04:01:01:06 allele by one nucleotide substitution in the intron 5.

A novel HLA-C*01 variant, HLA-C*01:02:01:70, identified in a healthy individual from Greece.

HLA-C*01:02:01:70 differs from the HLA-C*01:02:01:01 allele by one nucleotide substitution in the intron 4.

Genomic sequence of the novel HLA-B*41:02:01:11, and -C*08:266 alleles identified in a solid organ recipient.

HLA-B*41:02:01:11 and -C*08:266 were detected in a solid organ recipient during the HLA typing process.

Discovery of the novel HLA-A*01:01:01:112 allele in a Greek volunteer bone marrow donor.

HLA-A*01:01:01:112 differs from the HLA-A*01:01:01:01 allele by one nucleotide substitution in the 5'UTR.

Discovery of the novel HLA-B*47:01:01:07 allele in a Greek volunteer bone marrow donor.

HLA-B*47:01:01:07 differs from the HLA-B*47:01:01:03 allele by one nucleotide deletion in the 3'UTR.

Utilizing Massively Parallel Sequencing (MPS) of Human Leukocyte Antigen (HLA) Gene Polymorphism to Assess Relatedness in Deficiency Parentage Testing.

In the realm of DNA testing with legal implications, the reliability and precision of genetic markers play a pivotal role in confirming or negating paternity claims. This study aimed to assess the potential utility of human leukocyte antigen (HLA) gene polymorphism through massively parallel sequencing (MPS) technology as robust forensic markers for parentage testing involving genetic deficiencies. It sought to redefine the significance of HLA genes in this context. Data on autosomal short tandem repeat (aSTR) mutational events across 18 paternity cases involving 16 commonly employed microsatellite loci were presented. In instances where traditional aSTR analysis failed to establish statistical certainty, kinship determination was pursued via HLA genotyping, encompassing the amplification of 17 linked HLA loci. Within the framework of this investigation, phase-resolved genotypes for HLA genes were meticulously generated, resulting in the definition of 34 inherited HLA haplotypes. An impressive total of 274 unique HLA alleles, which were classified at either the field 3 or 4 level, were identified, including the discovery of four novel HLA alleles. Likelihood ratio (LR) values, which indicated the likelihood of the observed data under a true biological relationship versus no relationship, were subsequently calculated. The analysis of the LR values demonstrated that the HLA genes significantly enhanced kinship determination compared with the aSTR analysis. Combining LR values from aSTR markers and HLA loci yielded conclusive outcomes in duo paternity cases, showcasing the potential of HLA genes and MPS technology for deeper insights and diversity in genetic testing. Comprehensive reference databases and high-resolution HLA typing across diverse populations are essential. Reintegrating HLA alleles into forensic identification complements existing markers, creating a potent method for future forensic analysis.

Characterization of the novel HLA-B*51:01:01:109 allele by next generation sequencing in a Greek individual.

HLA-B*51:01:01:109 differs from HLA-B*51:01:01:01 by one nucleotide substitution in intron 5.

Characterization of the novel HLA-A*02:01:01:243 allele by next generation sequencing in a Greek individual.

HLA-A*02:01:01:243 differs from the HLA-A*02:01:01:01 allele by one nucleotide substitution in the 5'UTR.

Full-length sequence of the novel HLA-A*02:05:01:23 allele by next-generation sequencing in a Greek individual.

HLA-A*02:05:01:23 differs from HLA-A*02:05:01:01 by one nucleotide substitution in intron 6.

Full-length sequence of the novel HLA-B*18:01:01:73 allele by next generation sequencing in a Greek individual.

HLA-B*18:01:01:73 differs from HLA-B*18:01:01:02 by one nucleotide substitution in intron 2.

Discovery of the novel HLA-C*07:1052 allele, a variant of HLA-C*07:02:01:01, in a Greek individual.

Characterization of the novel HLA-C*07:1052 allele in a Greek individual using next-generation sequencing.

Identification of the novel HLA-A*01:426 allele in a Greek bone marrow donor.

Characterization of the novel HLA-A*01:426 allele in a 21-year-old Greek male bone marrow donor.

Identification of the novel HLA-DPB1*02:01:68 allele in a Greek individual.

Characterization of the novel HLA-DPB1*02:01:68 allele in a 27-year-old Greek hematopoietic stem cell transplant candidate.

Identification of the novel HLA-A*02:09:01:04 allele in a Greek individual.

Characterization of the novel HLA-A*02:09:01:04 allele in a 36-year-old Greek female.

Genomic sequence of the HLA-A*24:587 allele identified in a Greek individual.

Characterization of the novel HLA-A*24:587 allele in a Greek individual using next-generation sequencing.

HLA-B*51:380, a novel HLA-B allele with one exonic mutation identified in a Greek individual.

Characterization of the novel HLA-B*51:380 allele in a Greek individual using next-generation sequencing.

Demographic, Clinical and Immunogenetic Profiles of a Greek Cohort of COVID-19 Patients.

The present cross-sectional study consists of a comprehensive analysis of epidemiological, laboratory, and clinical characteristics of COVID-19 patients in relation to their immunogenetic profiles. We studied 125 COVID-19 patients comprising different stages of disease severity; non-hospitalized (mild n = 69) and hospitalized (n = 56). Analysis of disease characteristics revealed no major differences between males and females of each group of patients while hospitalized patients were older and presented with comorbidities. A positive allele association was observed for HLA-DRB1*01 in total COVID-19 patients versus healthy controls. Subgrouping of COVID-19 patients in mild and hospitalized further identified a statistically significant increase in HLA-DRB1*01 in mild COVID-19 patients versus controls. The frequency of A*11, A*23, and DRB1*09 alleles was higher, while the frequency of C*12 was lower, in hospitalized patients versus healthy controls albeit with uncorrected statistical significance. The identification of specific allele associations may provide useful future markers for disease susceptibility in order to allow successful clinical management of COVID-19 patients.

Shared epitope and polymorphism of MICA and NKG2D encoding genes in Greek and Polish patients with rheumatoid arthritis.

The present study aimed to analyse and compare the distribution of MICA (rs1051792) and NKG2D/KLRK1 (rs1154831, rs1049174, rs2255336) polymorphisms in 61 Greek and 100 Polish patients with rheumatoid arthritis in relation to the presence of the HLA-DRB1 shared epitope and clinical parameters. Genotyping of selected polymorphism was performed using real-time PCR. HLA-DRB1 shared epitope alleles segregated differently in Greek and Polish patients but in both populations were detected in over 60% of cases. The rs1051792-A variant was more common among SE-positive Polish patients (p = 0.003) while the rs1049174-G allele was more frequently observed in Greeks than in Poles (p < 0.001). Moreover, among Greek patients, the rs1051792-GG homozygotes more frequently presented with anti-CCP antibodies and rheumatoid factor (RF), while carriers of the rs1049174-G variant and rs1154831-CC homozygotes were characterized by lower disease activity scores (p < 0.05 in all cases). These results imply that, in addition to the HLA-DRB1 SE alleles, MICA and NKG2D polymorphisms may also play a role in rheumatoid arthritis.