Naslov
HLA Haplotype Association with Celiac Disease in Albanian Pediatric Patients from Kosovo

Autori
Ramosaj-Morina, Atifete ; Burek Kamenaric, Marija ; Azemi, Mehmedali ; Spahiu, Lidvana ; Grubic, Zorana ; Zunec, Renata

Izvornik
Gastroenterology Research and Practice (1687-6121) Volume 2019 (2019); 7369014, 7

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
celiac disease ; DQ2 heterodimer ; DQ8 heterodimer ; HLA haplotype ; Kosovo

Sažetak
Genetic predisposition to celiac disease (CD) is strongly associated with the presence of HLA alleles in the individual genotype encoding HLA-DQ2 and/or HLA-DQ8 heterodimers. The main aim of this study was to analyze the HLA-A, -B, -DRB1 and -DQ allele and five-locus haplotype frequencies in 60 Albanian pediatric CD patients and 124 non-CD children from Kosovo. The most prevalent haplotype in patients was the ancestral AH8.1 haplotype present in 22.5% of cases compared to 2.8% of controls (P<0.0001). Additionally, two other haplotypes were also overrepresented in patients (A*02~B*50~DRB1*07~DQA1*02:01~DQB1*02:02 and A*68~B*44~DRB1*07~DQA1*02:01~DQB1*02:02). Analysis showed that 95.0% of CD patients and 43.3% of controls were carriers of HLA-DQ2 and/or HLA-DQ8 heterodimers. The most frequent CD-predisposing HLA-DQ haplotypes in patients were HLA-DQ2.5 (46.7%) and HLA-DQ2.2 (11.6%), while the most prevalent genotypes were HLA-DQ2.5/DQX (58.3%) and HLA-DQ2.5/DQ2.2 (20.0%). The frequency of the HLA-DQ8 heterodimer among CD patients (4.2%) compared to the control group (8.1%) was without statistical significance. The given data demonstrate differences in the distribution of HLA haplotypes among Albanian CD patients from Kosovo in comparison to other European and non-European populations, as well as provide additional population data to supplement the thus far undisputed importance of the role of HLA-DQ2 and HLA-DQ8 heterodimers in the development of CD.

Izvorni jezik
Engleski

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