HLA-DRB1, -DQA1 and -DQB1 genotyping of 180 Czech individuals from the Czech Republic pop 3

Zajacova, Marta; Kotrbová-Kozak, Anna; Černá, Marie

doi:10.1016/j.humimm.2016.02.003

Cited by 9 publications

(7 citation statements)

References 3 publications

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“…that has been reported at much lower frequency only in the autochthonous Croatian population from the Gorski Kotar (2.4%) 24 , but not in the CBMDR database. Thus far, the DQA1*05:05 allele has been reported for a handful of European populations 9 , and the frequency observed in our cohort is currently surpassed only by the prevalence observed among Czechs (20.6%) 42 , north Italians (30.5%) 9 and Greeks (32.5%) 43 . Additional differences at the DQB1 locus were noticed after comparing DQB1*05:02 and DQB1*02:01 frequencies, with DQB1*05:02 being more prevalent in eastern (east vs. general CRO; 15.77% vs. 8.53%) and DQB1*02:01 in general Croatian population (east vs. general CRO; 7.66 vs. 12.94%), partly reflecting a positive, North-West to South-East gradient of DQB1*05:02 frequencies.…”

Section: Discussioncontrasting

confidence: 56%

HLA-A, -B, -C, -DRB1, -DQA1, and -DQB1 allele and haplotype frequencies defined by next generation sequencing in a population of East Croatia blood donors

Tokić

Žižková

Štefanić

et al. 2020

Sci Rep

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Next-generation sequencing (NGS) is increasingly used in transplantation settings, but also as a method of choice for in-depth analysis of population-specific HLA genetic architecture and its linkage to various diseases. With respect to complex ethnic admixture characteristic for East Croatian population, we aimed to investigate class-I (HLA-A,-B,-C) and class-II (HLA-DRB1,-DQA1,-DQB1) HLA diversity at the highest, 4-field resolution level in 120 healthy, unrelated, blood donor volunteers. Genomic DNA was extracted and HLA genotypes of class I and DQA1 genes were defined in full-length,-DQB1 from intron 1 to 3′ UTR, and-DRB1 from intron 1 to intron 4 (Illumina MiSeq platform, Omixon Twin algorithms, IMGT/HLA release 3.30.0_5). Linkage disequilibrium statistics, Hardy-Weinberg departures, and haplotype frequencies were inferred by exact tests and iterative Expectation-Maximization algorithm using PyPop 0.7.0 and Arlequin v3.5.2.2 software. Our data provide first description of 4-field allele and haplotype frequencies in Croatian population, revealing 192 class-I and class-II alleles and extended haplotypic combinations not apparent from the existing 2-field HLA reports from Croatia. This established reference database complements current knowledge of HLA diversity and should prove useful in future population studies, transplantation settings, and disease-associated HLA screening. Croatia is a Mediterranean, crescent-shaped south European country bordering Slovenia in the northwest, Hungary in the northeast, Serbia in the east, Bosnia and Herzegovina and Montenegro in the southeast, and Italy along the maritime border. Croatia consists of three major geomorphologic areas, which can be further broken down into five traditional districts based on history, topography, and economy; Istria and Dalmatia in the northern and southern Croatian littoral, Gorski Kotar in country's mountainous area, central continental Croatia, and Slavonia in the Pannonian basin in the east (Fig. 1). Slavonia territory was originally populated by the southern branch of the Indo-European Slavic populations in the 7 th century 1 , and has been a witness of significant population admixture ever since, including the Hungarian migration to Slavonia in 10 th century, and the influx of Islamic and Orthodox Balkan and Asian populations during the Ottoman conquest in 16 th century, causing at the same time, the continuous shift of Catholics from Bosnia to Slavonia during several centuries 2. Under the auspices of Habsburg monarchy, the settlement of Germans and Austrians in Slavonian urban areas peaks between 18 th and 19 th century, while Orthodox Vlachs from Bosnia, immigrating Czechs, Slovaks, Ukrainians, Italians, and

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Section: Discussioncontrasting

confidence: 56%

HLA-A, -B, -C, -DRB1, -DQA1, and -DQB1 allele and haplotype frequencies defined by next generation sequencing in a population of East Croatia blood donors

Tokić

Žižková

Štefanić

et al. 2020

Sci Rep

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“…This allele (HLA ~C*17:01) is present at lower frequencies (<0.01) in Caucasian, Asian and Hispanic populations residing in the USA, while observed at higher frequencies (>0.06) in Africans, African Americans and Caribbeans (González-Galarza et al, 2015). HLA ~DQA1*04:02 (frequency of 0.194 and second most common in this study), has not previously been reported in any other South African study, but lower frequencies of 0.006 and 0.001 have been reported in Czech Republic (Europe) and San Diego (USA) populations, respectively (González-Galarza et al, 2015;Zajacova et al, 2016;Moore et al, 2018). The top three haplotypes detected in the South African population have not been reported in any population in the AFND (González-Galarza et al, 2015).…”

Section: Discussioncontrasting

confidence: 40%

High Resolution HLA ∼A, ∼B, ∼C, ∼DRB1, ∼DQA1, and ∼DQB1 Diversity in South African Populations

et al. 2022

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Background: Lack of HLA data in southern African populations hampers disease association studies and our understanding of genetic diversity in these populations. We aimed to determine HLA diversity in South African populations using high resolution HLA ∼A, ∼B, ∼C, ∼DRB1, ∼DQA1 and ∼DQB1 data, from 3005 previously typed individuals.Methods: We determined allele and haplotype frequencies, deviations from Hardy-Weinberg equilibrium (HWE), linkage disequilibrium (LD) and neutrality test. South African HLA class I data was additionally compared to other global populations using non-metrical multidimensional scaling (NMDS), genetic distances and principal component analysis (PCA).Results: All loci strongly (p < 0.0001) deviated from HWE, coupled with excessive heterozygosity in most loci. Two of the three most frequent alleles, HLA ∼DQA1*05:02 (0.2584) and HLA ∼C*17:01 (0.1488) were previously reported in South African populations at lower frequencies. NMDS showed genetic distinctness of South African populations. Phylogenetic analysis and PCA clustered our current dataset with previous South African studies. Additionally, South Africans seem to be related to other sub-Saharan populations using HLA class I allele frequencies.Discussion and Conclusion: Despite the retrospective nature of the study, data missingness, the imbalance of sample sizes for each locus and haplotype pairs, and induced methodological difficulties, this study provides a unique and large HLA dataset of South Africans, which might be a useful resource to support anthropological studies, disease association studies, population based vaccine development and donor recruitment programs. We additionally provide simulated high resolution HLA class I data to augment the mixed resolution typing results generated from this study.

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“…HLA-DQ is a cell surface receptor found on antigen-presenting cells [ 3 ]. High levels of HLA-DQ2 and HLA-DQ8 alleles have assisted in identifying CeD patients and individuals at risk of developing this condition [ 27 ].…”

Section: Resultsmentioning

confidence: 99%

“…The α and β chains are encoded by two adjacent loci, HLA–DQA1 and HLA–DQB1 , respectively, on chromosome 6p21.3 [ 2 ]. A serotyping system classifies the variant HLA-DQ2 (alleles DQA1 *05:01/DQB1 *02:01) and HLA-DQ8 (alleles DQA1 *03:01/DQB1 *03:02) [ 3 ]. These cis-haplotype isoforms are directly associated with CeD [ 3 , 4 ].…”

Section: Introductionmentioning

confidence: 99%

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Celiac Disease Defined by Over-Sensitivity to Gliadin Activation and Superior Antigen Presentation of Dendritic Cells

Hudec

Riegerová

Pala

et al. 2021

IJMS

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The autoimmune condition, Celiac Disease (CeD), displays broad clinical symptoms due to gluten exposure. Its genetic association with DQ variants in the human leukocyte antigen (HLA) system has been recognised. Monocyte-derived mature dendritic cells (MoDCs) present gluten peptides through HLA-DQ and co-stimulatory molecules to T lymphocytes, eliciting a cytokine-rich microenvironment. Having access to CeD associated families prevalent in the Czech Republic, this study utilised an in vitro model to investigate their differential monocyte profile. The higher monocyte yields isolated from PBMCs of CeD patients versus control individuals also reflected the greater proportion of dendritic cells derived from these sources following lipopolysaccharide (LPS)/ peptic-tryptic-gliadin (PTG) fragment stimulation. Cell surface markers of CeD monocytes and MoDCs were subsequently profiled. This foremost study identified a novel bio-profile characterised by elevated CD64 and reduced CD33 levels, unique to CD14++ monocytes of CeD patients. Normalisation to LPS stimulation revealed the increased sensitivity of CeD-MoDCs to PTG, as shown by CD86 and HLA-DQ flow cytometric readouts. Enhanced CD86 and HLA-DQ expression in CeD-MoDCs were revealed by confocal microscopy. Analysis highlighted their dominance at the CeD-MoDC membrane in comparison to controls, reflective of superior antigen presentation ability. In conclusion, this investigative study deciphered the monocytes and MoDCs of CeD patients with the identification of a novel bio-profile marker of potential diagnostic value for clinical interpretation. Herein, the characterisation of CD86 and HLA-DQ as activators to stimulants, along with robust membrane assembly reflective of efficient antigen presentation, offers CeD targeted therapeutic avenues worth further exploration.

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HLA-DRB1, -DQA1 and -DQB1 genotyping of 180 Czech individuals from the Czech Republic pop 3

Cited by 9 publications

References 3 publications

HLA-A, -B, -C, -DRB1, -DQA1, and -DQB1 allele and haplotype frequencies defined by next generation sequencing in a population of East Croatia blood donors

HLA-A, -B, -C, -DRB1, -DQA1, and -DQB1 allele and haplotype frequencies defined by next generation sequencing in a population of East Croatia blood donors

High Resolution HLA ∼A, ∼B, ∼C, ∼DRB1, ∼DQA1, and ∼DQB1 Diversity in South African Populations

Celiac Disease Defined by Over-Sensitivity to Gliadin Activation and Superior Antigen Presentation of Dendritic Cells

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