HLA-A, -B, -C and -DRB1 allele and haplotype frequencies in the Macedonian population based on a family study

Kirijas, Meri; Stavrik, S. Genadieva; Senev, Aleksandar; Mladenovska, Olivija Efinska; Petlichkovski, Aleksandar

doi:10.1016/j.humimm.2017.12.003

Cited by 5 publications

(3 citation statements)

References 44 publications

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“…The haplotype distribution in our cohort is in close agreement with previously reported class I and class II associations in CBMDR and Croatian families, with few interesting differences found in our population of eastern Croats. Next to the pan-European (A*01:01:01:01~C*07:01:01~B*08:01:01~DRB1*03:01:01:01~ DQA1*05:01:01:02~DQB1*02:01:01) and Mediterranean (A*02:01:01~C*07:01:01~B*18:01:01~ DRB1*11:04:01~DQA1*05:05:01:09~DQB1*03:01:01:03) haplotypes, two notable exceptions were extended A*03:01~C*07:02~B*07:02~DRB1*16:01 and A*11:01~B*35:01~C*04:01~DRB1*16:01 variants, both commonly observed in Macedonian families 46 , as well as Austrian, Croatian, Bosnian-Herzegovinian, Italian, Romanian, Greek and Turkish minority in Germany 20 , but not in the CBMDR 17 or Croatian family study 18 (Table 5), where A*03:01~B*07:02 was more frequently found with DRB1*15:01, and A*11:01~B*35:01 with DRB1*01:01. Moreover, DRB1*11:01, -*11:04, -*12:01 and -*13:03 alleles were more frequently associated with DQA1*05:01~DQB1*03:01 haplotype in general, but not east Croatian population, where above-mentioned DRB1 alleles were in strong linkage disequilibrium with DQA1*05:05~DQB1*03:01 combination (Supplementary Table 8).…”

Section: Discussionmentioning

confidence: 94%

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: Discussionmentioning

confidence: 94%

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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“…It is important to note that a European haplotype is present as part of the top ten most frequent haplotypes in our sample: A*02:01~B*18:01~C*07:01~DRB1*11:04~DQB1*03:01, with 2.40% (Table 6). That haplotype has been reported in frequencies ranging from 0.91% to 7.32% in populations from eastern and Mediterranean regions from Europe, such as Albania, Macedonia, Greece, Bosnia and Herzegovina, Romania and Italy 71,[74][75][76][77][78] . The only African haplotype present at least twice in our sample was A*68:02~B*53:01~C*04:01~DRB1*13:03 DQB1*02:02 (HF = 0.44%; Table 6).…”

Section: Discussionmentioning

confidence: 90%

Diversity of HLA Class I and Class II blocks and conserved extended haplotypes in Lacandon Mayans

Barquera¹,

Zúñiga²,

Flores‐Rivera³

et al. 2020

Sci Rep

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“…We also did a comparison of the allele group and haplotype frequencies between the Macedonians in MBMDR and family study (Kirijas, Genadieva Stavrik, Senev, Efinska-Mladenovska, & Petlichkovski, 2017). The frequency of the five most frequent allele groups in both groups and the alleles that had p value <0.05 are shown on Table 9.…”

Section: Re Sults and Discussionmentioning

confidence: 99%

HLA profile of the donors in the Macedonian Bone Marrow Donor Registry

Kirijas

Stavrik

Trajkov

et al. 2018

Int J Immunogenetics

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The importance of HLA alleles in the process of haematopoietic stem cell transplantation, especially the process of unrelated donor search, is enormous. Macedonian Bone Marrow Donor Registry was established in 2010 and has registered volunteer donors from different nationalities that live in the Republic of Macedonia. The aim of this study was to determine the HLA allele and haplotype frequencies of the volunteer donors from the Macedonian Bone Marrow Donor Registry and to compare this results with the Macedonians from a family study. We analyzed 1,541 donors, with different nationalities, Macedonian, Albanian and Macedonian Muslims that were most numerous in MBMDR, and typed them for HLA-A, -B, -C, -DRB1, whereas Macedonian also for HLA-DQA1 and HLA-DQB1 by SSO method (One Lambda, CA, USA). The most frequent alleles in Macedonians were HLA-A*02, 01, 24; HLA-B*35, 18, 51; HLA-C*07, 04, 12; HLA-DRB1*11, 16, 13; HLA-DQA1*01, 05 and HLA-DQB1*05, 03, 06; in Albanians they were HLA-A*02, 24,01; HLA-B*51, 18, 35; HLA-C*07, 04, 12, HLA-DRB1*11, 13,16; and in Macedonian Muslims they were HLA-A*02, 01, 24; HLA-B*18, 51, 35, HLA-C*07, 04, 02 and HLA-DRB1*11, 16, 14. The most common haplotype in Macedonian was HLA-A*01-B*08-C*07-DRB1*03, whilst in Albanian and Macedonian Muslims HLA-A*02-B*18-C*07-DRB1*11. The comparison of the HLA allele groups between Macedonian from MBMDR and family study showed similar distribution. This study confirmed the close relationship between the populations that live in the Balkan Peninsula.

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HLA-A, -B, -C and -DRB1 allele and haplotype frequencies in the Macedonian population based on a family study

Cited by 5 publications

References 44 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

Diversity of HLA Class I and Class II blocks and conserved extended haplotypes in Lacandon Mayans

HLA profile of the donors in the Macedonian Bone Marrow Donor Registry

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