Naslov
DIAGNOSTIC TESTING OF HLA-DQ IN CELIAC DISEASE

Autori
Štingl Janković, Katarina ; Sviličić, Danijela ; Maskalan, Marija ; Burek Kamenarić, Marija ; Žunec, Renata ; Grubić, Zorana

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

Izvornik
Abstracts for the 32nd European Immunogenetics and Histocompatibility Conference and the 25th Annual Meeting of the Italian Society for Immunogenetics and Transplantation Biology (AIBT) Venice Lido, Italy May 9–12, 2018 / Marsh, Steven GE - , 2018, 465-465

Skup
32nd European Immunogenetics and Histocompatibility Conference (EFI) ; 25th Annual Meeting of the Italian Society for Immunogenetics and Transplantation Biology (AIBT)

Mjesto i datum
Venecija, Italija, 09.05.2018. - 12.05.2018

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
HLA-DQ, celic disease

Sažetak
The association of celiac disease (CD) and HLA class II genes is one of the best established and most documented disease associations of HLA system. The aim of our retrospective study was to determine whether there is a difference in HLA class II allele distribution among individuals who have a higher risk of developing CD (family members of confirmed CD patients or individuals with unconfirmed diagnosis who were referred to our Tissue Typing Centre for HLA typing as a part of the diagnostic procedure) and healthy controls with no history of CD in their family background. For that purpose, we analyzed the results of HLADQ typing performed using the PCR-SSP high resolution method (Olerup GmbH, Vienna, Austria) carried out for patients with CD (N=118), family members of CD patients (N=206), subjects with unconfirmed CD (N=1685) and healthy controls (HC) (N=985). Results show that genotype DQ2.5 cis in both single or double dose was statistically more frequent among all the groups when compared with HC (P<0.0001, each). Also, it was more frequent among patients with CD than family members (P<0.0001 both single and double dose) and unconfirmed patients (P=0.0003 and P=0.0057, respectively). The trans configuration of this genotype also showed significantly higher incidence among patients when compared with HC, but also unconfirmed patients and family members (P=0.0002, P=0.0032 and P=0.0160, respectively). No difference was seen between unconfirmed patients and family members when compared with controls. The DQ8 genotype did not show this specific pattern. No statistical significance was observed in any of the groups both for single or double doses. These results show that the highest risk for CD was indicated by the presence of the HLA-DQ2.5 heterodimer (HLA-DQA1*05- DQB1*02) both in single or double dose combination for all CD patients and underline the importance of HLADQB1 typing for assessing the susceptibility to CD.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Kliničke medicinske znanosti

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