Naslov
Association of the CYP21A2 gene p. V282L mutation with HLA alleles and haplotypes in the Croatian population

Autori
Grubic, Zorana ; Maskalan, Marija ; Stingl Jankovic, Katarina ; Zvecic, Sabina ; Dumic Kubat, Katja ; Krnic, Nevena ; Zunec, Renata ; Dumic, Miroslav

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

Izvornik
Abstracts for the 31st European Immunogenetics and Histocompatibility Conference (EFI) 25th Annual Meeting of the German Society for Immunogenetics (DGI) Mannheim/Heidelberg, Germany 30 May-2 June 2017 / Steven GE Marsh - : John Wiley & Sons, 2017, 448-448

Skup
The 31st European Immunogenetics and Histocompatibility Conference (EFI) 25th Annual Meeting of the German Society for Immunogenetics (DGI) Mannheim/Heidelberg, Germany

Mjesto i datum
Mannheim, Njemačka, 30.05.2017. - 02.06.2017

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
CYP21A2, HRVATSKA POPULACIJA, MUTACIJE
(CYP21A2, Croatian population, mutations)

Sažetak
The CYP21A2 mutations that are in linkage disequilibrium with particular HLA-A, -B, -DRB1 alleles/haplotypes, cause deficiency of the 21- hydroxylase enzyme (21-OHD) and account for the majority of congenital adrenal hyperplasia (CAH) cases. The aim of this study was to investigate those associations linked to the non-classical (NC) form of CAH among Croatians. The study included parents of patients with the NC form of CAH, positive for the p.V282L mutation (N =55) and cadaveric donor samples (N =231). All subjects were HLA-A, -B, and -DRB1 typed and tested for the presence of the p.V282L mutation. Among parents of patients, 92.73% of subjects were positive for the B*14:02 allele and almost half of them carried the HLA-A*33:01-B*14:02-DRB1*01:02 haplotype. Among cadaveric samples 77 out of 96 subjects positive for the B*14:02 allele had the p.V282L mutation. Among them, 37 were positive for the HLA-A*33:01- B*14:02-DRB1*01:02 haplotype, 23 had the HLA- A*33:01-B*14:02-DRB1*03:01 haplotype, 8 had the B*14:02-DRB1*01:02 combination and 5 were carrying the HLA-A*68:02-B*14:02-DRB1*13:03 haplotype. Four of these subjects were positive only for B*14:02 allele. HLA-B*14:02 was the only single allele which association with the p.V282L mutation reached statistically significant P value (RR=12.00 ; P=0.0024). Haplotypes B*14:02- DRB1*01:02 (P<0.001) and HLA-A*68:02-B*14:02- DRB1*13:03 (P<0.001) as well as HLA-A*33:01- B*14:02-DRB1*01:02 and HLA-A*33:01-B*14:02- DRB1*03:01 showed high relative risks (RR=45.00, RR=41.63 and RR=36.96, respectively). Our data support the previously documented association of the HLA-A*33:01-B*14:02-DRB1*01:02 haplotype with the p.V282L mutation, but also point out a high frequency of the p.V282L mutation among Croatians with HLA-A*33:01-B*14:02-DRB1*03:01 and HLA- A*68:02-B*14:02-DRB1*13:03 haplotypes.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti

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