DIAGNOSTIC TESTING OF HLA-DQ IN CELIAC DISEASE (CROSBI ID 684207)
Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Štingl Janković, Katarina ; Sviličić, Danijela ; Maskalan, Marija ; Burek Kamenarić, Marija ; Žunec, Renata ; Grubić, Zorana
engleski
DIAGNOSTIC TESTING OF HLA-DQ IN CELIAC DISEASE
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.
HLA-DQ, celic disease
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Podaci o prilogu
465-465.
2018.
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objavljeno
10.1111/tan.13251
Podaci o matičnoj publikaciji
HLA
Marsh, Steven GE
2059-2310
Podaci o skupu
32nd European Immunogenetics and Histocompatibility Conference (EFI) ; 25th Annual Meeting of the Italian Society for Immunogenetics and Transplantation Biology (AIBT)
poster
09.05.2018-12.05.2018
Venecija, Italija; Lido, Italija
Povezanost rada
Biologija, Kliničke medicinske znanosti