Naslov
HLA-DQA AND HLA-DQB ALLELE AND HAPLOTYPE FREQUENCIES IN PATIENTS WITH CELIAC DISEASE FROM SOUTHERN CROATIA REGION

Autori
Jaman, Sonja, Čečuk-Jelicic, Esma ; Tarabene, Matea ; Despot, Ranka

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

Izvornik
ABSTRACT BOOK Joint 34th European Immunogenetics and Histocompatibility and 31st British Society for Histocompatibility and Immunogenetics Conference / - , 2020, 370-371

Skup
34th European Immunogenetics and Histocompatibility ; 31st British Society for Histocompatibility and Immunogenetics Conference

Mjesto i datum
Glasgow, Ujedinjeno Kraljevstvo, 26.04.2020. - 29.04.2020

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
HLA, celiac disease, HLA-DQ heterodimers

Sažetak
Celiac disease (CD) is an autoimmune disorder that occurs in genetically predisposed individuals who develop an immune reaction to gluten. Certain variants of the HLA class II genes HLA-DQA1 and HLA-DQB1 have been previously shown to be present in more than 90% of patients with celiac disease – specifically HLADQ2 and HLA-DQ8 heterodimers, encoded by HLADQA1*05:01~DQB1*02:01 and HLA- DQA1*03:01~DQB1* 03:02 haplotypes, respectively. The aim of this study was to analyze HLA-DQA1 and HLA-DQB1 allele and haplotype frequencies in patients diagnosed with celiac disease from Split-Dalmatia County in comparison with healthy population in the same region. Samples from 39 CD patients and 99 healthy blood-donors from SDC were genotyped at intermediate resolution for HLA- DQA1 and 370 ABSTRACT HLA-DQB1 using sequence-specific oligonucleotide probing method on a Luminex platform using commercial kits (Immucor HLA SSO Typing kits). Allele and haplotype frequencies in both patients and control group were calculated by direct counting and compared for significance by Fisher's exact test (statistical significance was considered at P<0.05). As expected our results have shown a significant increase in HLA-DQ2.5 heterodimer coding haplotype (HLA-DQA1*05:01~DQB1*02:01) frequency in CD patients, while the frequency of HLA-DQ8 haplotype (DQA1*03:01~DQB1*03:02) was also increased, but not statistically significant. Presence of CDpredisposing HLA-DQ haplotypes (HLA-DQ2 and/or HLA-DQ8) were observed in 95% (37/39) patients, opposed to 35 % (35/99) in control subjects which is in accordance with previous findings in Croatia as well as other European populations. These results, although obtained in relatively small cohort of patients, once again confirm the importance of HLA-typing in clinical diagnosis of celiac disease.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Interdisciplinarne prirodne znanosti, Kognitivna znanost (prirodne, tehničke, biomedicina i zdravstvo, društvene i humanističke znanosti)

POVEZANOST RADA