Identification of the novel <i>HLA‐B*18:37:02</i> allele in a Croatian individual

Kamenarić, Marija Burek; Maskalan, Marija; Drabbels, Jos J.M.; Ćepulić, Branka Golubić; Grubić, Zorana

doi:10.1111/tan.13238

Cited by 4 publications

(1 citation statement)

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“…The HLA-B*51:01 allelic group was the most frequent in both general and east Croatian cohort, but the frequency rank of the remaining HLA-B allelic variants was different, which was particularly evident for our 6 th ranking B*18:01 allele group, previously reported as the 2 nd most frequent allelic variant in the CBMDR (8.16%) 17 and one Croatian family study (8.27%) 18 . Among five different B*18 alleles detected in the Croats so far 28 , we observed only two, the B*18:01:01 (5.14%) and the B*18:03 (0.90%), resulting in a B*18:01 distribution closer to those reported in Armenians 29 , Germans 30 , Austrian and the Turkish minority in Germany 20 , Bulgarian Roma individuals 31 , and Iranian Kurds 32 . Moreover, the frequency of the 2 nd most common HLA-B allelic group in our cohort, the HLA-B www.nature.com/scientificreports www.nature.com/scientificreports/ 5 th in the CBMDR), was more similar to those observed in Turks 20 , Serbians 9 , and Italians 27 .…”

Section: Discussionsupporting

confidence: 44%

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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