Frequencies of HLA-DQ2/DQ8 Genotypes in Patients Prediagnosed as Celiac Disease

Öz

Aim: Celiac disease is a common, familial, autoimmune gastrointestinal disease. It is caused by sensitivity to the dietary protein gluten, which is present in wheat, rye, and barley. Celiac disease has a strong genetic association with human leukocyte antigens (HLA). The primary susceptibility allele for Celiac disease is HLA-DQ2 which is composed of HLA-DQA1*05 and DQB1*02, rest of the cases is related to HLA-DQ8 that is composed of HLA-DQA1*03 DQB1*03:02. The aim of the present study was to investigate the prevalence of the DQ2 and DQ8 genotypes in children with prediagnosed as celiac disease in city of Malatya, Turkey.

Materials and Methods: DNA samples from 578 individuals (338 female, 240 male) were genotyped for HLA DQA1 and DQB1 based on SSP-PCR method.

Results: Among the 578 cases, 304 (52.59%) had the genotype HLA-DQ2 and 86 (14.87 %) had HLA-DQ8, 28 (4.84 %) had HLA-DQ2/DQ8, and 160 (27.6 8%) did not have any of these genotypes. The most common alleles in children genotyped for in Malatya were DQA1*05 (76.64 %) and DQB1*02 (61.41 %).

Conclusion: In conclusion, the frequencies of the DQ2/DQ8 genotypes in our study are similar to those reported in Turkey, previously. 

Anahtar Kelimeler

• HLA-DQ2,HLA-DQ8,Celiac Disease

Çölyak Hastalığı Ön Tanısı Almış Bireylerde HLA-DQ2 ve HLA-DQ8 Genotip Sıklıkları

Öz

Amaç: Çölyak hastalığı yaygın, ailesel, otoimmün bir gastrointestinal hastalıktır. Bu durum, buğday, çavdar ve arpada bulunan diyetteki protein glutene karşı hassasiyetten kaynaklanır. Çölyak hastalığı insan lökosit antijenleriyle (HLA) güçlü bir genetik ilişkiye sahiptir. Çölyak hastalığı için birincil duyarlılık genotipi HLA-DQA1*05 ve DQB1*02'den oluşan HLA-DQ2'dir, vakaların geri kalan kısmı HLA-DQA1*03 ve DQB1*03:02'den oluşan HLA-DQ8 ile ilişkilidir. Bu çalışmanın amacı, Malatya ilinde çölyak ön tanısı almış çocuk hastalarda DQ2 ve DQ8 genotiplerinin sıklığını araştırmaktır.

Gereç ve Yöntem: 578 bireyden (338 kadın/240 erkek) DNA örnekleri HLA-DQA1 ve DQB1 için SSP-PCR yöntemine göre genotiplenmiştir.

Bulgular: 578 olgunun 304'ünde (% 52.59) HLA-DQ2, 86'sında (% 14.87) HLA-DQ8, 28'inde (% 4.84) HLA-DQ2 /DQ8 tespit edilmiştir ve 160 hastanın ise (% 27.68) DQ2 veya DQ8 genotiplerinden herhangi birine sahip olmadığı görülmüştür. En sık rastlanan alleller DQA1*05 (% 76.64) ve DQB1*02 (% 61.41) olarak belirlenmiştir.

Sonuç: Sonuç olarak; çalışmamızdaki DQ2/DQ8 genotiplerinin sıklıklarının, literatür ile benzer olduğu tespit edilmiştir.

Anahtar Kelimeler

• HLA-DQ2,HLA-DQ8,Çölyak Hastalığı

Kaynakça

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