Naslov
The diversity in the associations between the HLA-DRB4*01:03:01:02N ALLELE and HLA-DRB1 ALLELES

Autori
Maskalan, Marija ; Radmanic, Leona ; Grubic, Zorana ; Burek Kamenaric, Marija ; Zunec, Renata

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Abstracts for the 31st European Immunogenetics and Histocompatibility Conference (EFI) and 25th Annual Meeting of the German Society for Immunogenetics (DGI) / Marsh, Steven G.E. - : John Wiley & Sons, 2017, 449-450

Skup
European Immunogenetics and Histocompatibility Conference (31 ; 2017) : Annual Meeting of the German Society for Immunogenetics (25 ; 2017)

Mjesto i datum
Heidelberg, Njemačka; Mannheim, Njemačka, 30.05.2017. - 02.06.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
raznolikost, HLA-DRB4, hrvatska populacija
(diversity, HLA-DRB4, Croatian population)

Sažetak
It is well known that DRB1 gene is expressed for each HLA haplotype and depending on the DRB1 allele present a second DRB gene can be expressed. In the haplotypes with DRB1*04, DRB1*07, and DRB1*09 alleles the second active DRB gene is DRB4. This gene has now 57 known alleles and among them five are nonexpressed: DRB4*01:03:01:02N, DRB4*01:16N, DRB4*01:38N, DRB4*02:01N and DRB4*03:01N. Here we describe HLA-DRB1~DRB4 haplotypes in the group of 242 cadaveric samples positive for one of the DR53 alleles in Croatia. One hundred and eleven samples were DRB1*07:01 positive, 126 were DRB1*04 positive, while 5 samples were DRB1*09:01 positive. HLA-A, -B, -C, -DRB1 and -DQB1 typing was performed by PCR-SSP low resolution method, while HLA-DRB4 and HLA-DRB1*04 typing was performed by PCR-SSP at allelic level. Three different DRB4 alleles were observed among DRB1*04 samples ; DRB4*01:02, DRB4*01:03 and DRB4*01:03:01:02N with frequencies of 2.38%, 91.27%, and 6.35%, respectively. Seven out of eight times when DRB4*01:03:01:02N allele was observed among DRB1*04 samples, the involved allele was DRB1*04:02 (7/26 ; 26.92%). This is statistically significant in comparison to DRB1*04:01 samples (P=0.0019) and DRB1*04:04 samples (P=0.0113), while comparison with other subgroups of DRB1*04 samples did not reach statistical significance. Among 6 different DRB4 alleles in the group of DRB1*07:01~DQB1*02:02 haplotypes, the most frequent were DRB4*01:03 (49.09%) and DRB4*01:01:01:01 (41.18%) while alleles DRB4*01:08, DRB4*03:01N, DRB4*01:05 and DRB4*01:02 were detected once or twice. The DRB1*07:01~DQB1*03:03 haplotypes in 98.21% cases carried DRB4*01:03:01:02N allele. This study supports necessity of DRB4 subtyping to correctly identify the presence/absence of DRB4 null alleles especially in the cases when DRB1*04:02 allele is present. This may have implication in unrelated HSCT program as well as for HLA-disease association studies.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Kliničke medicinske znanosti

POVEZANOST RADA