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

Yıl 2018, Cilt: 8 Sayı: 2, 94 - 97, 26.04.2018
https://doi.org/10.16899/gopctd.418646

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. 

Kaynakça

  • 1. Vidales MC, Zubillaga P, Zubillaga I, Alfonso-Sanchez MA. Allele and haplotype frequencies for HLA class II (DQA1 and DQB1) loci in patients with celiac disease from Spain. Hum immunol 2004;65(4):352-8.
  • 2. Wu J, Xia B, von Blomberg BM, Zhao C, Yang XW, Crusius JB, et al. Coeliac disease in China, a field waiting for exploration. Rev Esp Enferm Dig 2010;102(8):472-7.
  • 3. Kuloglu Z, Doganci T, Kansu A, Demirceken F, Duman M, Tutkak H, et al. HLA types in Turkish children with celiac disease. Turk J Pediatr 2008;50(6):515-20.
  • 4. Neuhausen SL, Weizman Z, Camp NJ, Elbedour K, Sheffield VC, Zone JJ, et al. HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease. Hum immunol 2002;63(6):502-7.
  • 5. Walkowiak J, Blask-Osipa A, Lisowska A, Oralewska B, Pogorzelski A, Cichy W, et al. Cystic fibrosis is a risk factor for celiac disease. Acta Biochim Pol 2010;57(1):115-8.
  • 6. Tjon JM, van Bergen J, Koning F. Celiac disease: how complicated can it get? Immunogenet 2010;62(10):641-51.
  • 7. Clot F, Babron MC. Genetics of celiac disease. Mol Genet Metab 2000;71(1-2):76-80.
  • 8. Costantini S, Rossi M, Colonna G, Facchiano AM. Modelling of HLA-DQ2 and its interaction with gluten peptides to explain molecular recognition in celiac disease. J Mol Graph Model 2005;23(5):419-31.
  • 9. Alarida K, Harown J, Di Pierro MR, Drago S, Catassi C. HLA-DQ2 and -DQ8 genotypes in celiac and healthy Libyan children. Dig Liver Dis 2010;42(6):425-7.
  • 10. Tuysuz B, Dursun A, Kutlu T, Sokucu S, Cine N, Suoglu O, et al. HLA-DQ alleles in patients with celiac disease in Turkey. Tissue antigens 2001;57(6):540-2.
  • 11. Megiorni F, Mora B, Bonamico M, Barbato M, Nenna R, Maiella G, et al. HLA-DQ and risk gradient for celiac disease. Hum immunol 2009;70(1):55-9.
  • 12. Tollefsen S, Arentz-Hansen H, Fleckenstein B, Molberg O, Raki M, Kwok WW, et al. HLA-DQ2 and -DQ8 signatures of gluten T cell epitopes in celiac disease. J Clin Invest 2006;116(8):2226-36.
  • 13. Megiorni F, Pizzuti A. HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing. J Biomed Sci 2012;19:88.
  • 14. Ceylan G, Tekedereli İ. Çölyak Hastalığı Olan Bir Ailede HLA Tiplendirmesi. Gazi Tıp Derg 2009;20(4):181-3.
  • 15. Piccini B, Vascotto M, Serracca L, Luddi A, Margollicci MA, Balestri P, et al. HLA-DQ typing in the diagnostic algorithm of celiac disease. Rev Esp Enferm Dig 2012;104(5):248-54.
  • 16. Castro-Antunes MM, Crovella S, Brandao LA, Guimaraes RL, Motta ME, Silva GA. Frequency distribution of HLA DQ2 and DQ8 in celiac patients and first-degree relatives in Recife, northeastern Brazil. Clinics (Sao Paulo) 2011;66(2):227-31.
  • 17. Karell K, Louka AS, Moodie SJ, Ascher H, Clot F, Greco L, et al. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease. Hum immunol. 2003;64(4):469-77.
  • 18. Biagi F, Bianchi PI, Vattiato C, Marchese A, Trotta L, Badulli C, et al. Influence of HLA-DQ2 and DQ8 on severity in celiac Disease. J Clin Gastroenterol 2012;46(1):46-50.
  • 19. Tumer L, Altuntas B, Hasanoglu A, Soylemezoglu O, Arinsoy T. Pattern of human leukocyte antigens in Turkish children with celiac disease. Pediatr Int 2000;42(6):678-81.
  • 20. Cintado A, Sorell L, Galvan JA, Martinez L, Castaneda C, Fragoso T, et al. HLA DQA1*0501 and DQB1*02 in Cuban celiac patients. Hum immunol 2006;67(8):639-42.

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

Yıl 2018, Cilt: 8 Sayı: 2, 94 - 97, 26.04.2018
https://doi.org/10.16899/gopctd.418646

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.

Kaynakça

  • 1. Vidales MC, Zubillaga P, Zubillaga I, Alfonso-Sanchez MA. Allele and haplotype frequencies for HLA class II (DQA1 and DQB1) loci in patients with celiac disease from Spain. Hum immunol 2004;65(4):352-8.
  • 2. Wu J, Xia B, von Blomberg BM, Zhao C, Yang XW, Crusius JB, et al. Coeliac disease in China, a field waiting for exploration. Rev Esp Enferm Dig 2010;102(8):472-7.
  • 3. Kuloglu Z, Doganci T, Kansu A, Demirceken F, Duman M, Tutkak H, et al. HLA types in Turkish children with celiac disease. Turk J Pediatr 2008;50(6):515-20.
  • 4. Neuhausen SL, Weizman Z, Camp NJ, Elbedour K, Sheffield VC, Zone JJ, et al. HLA DQA1-DQB1 genotypes in Bedouin families with celiac disease. Hum immunol 2002;63(6):502-7.
  • 5. Walkowiak J, Blask-Osipa A, Lisowska A, Oralewska B, Pogorzelski A, Cichy W, et al. Cystic fibrosis is a risk factor for celiac disease. Acta Biochim Pol 2010;57(1):115-8.
  • 6. Tjon JM, van Bergen J, Koning F. Celiac disease: how complicated can it get? Immunogenet 2010;62(10):641-51.
  • 7. Clot F, Babron MC. Genetics of celiac disease. Mol Genet Metab 2000;71(1-2):76-80.
  • 8. Costantini S, Rossi M, Colonna G, Facchiano AM. Modelling of HLA-DQ2 and its interaction with gluten peptides to explain molecular recognition in celiac disease. J Mol Graph Model 2005;23(5):419-31.
  • 9. Alarida K, Harown J, Di Pierro MR, Drago S, Catassi C. HLA-DQ2 and -DQ8 genotypes in celiac and healthy Libyan children. Dig Liver Dis 2010;42(6):425-7.
  • 10. Tuysuz B, Dursun A, Kutlu T, Sokucu S, Cine N, Suoglu O, et al. HLA-DQ alleles in patients with celiac disease in Turkey. Tissue antigens 2001;57(6):540-2.
  • 11. Megiorni F, Mora B, Bonamico M, Barbato M, Nenna R, Maiella G, et al. HLA-DQ and risk gradient for celiac disease. Hum immunol 2009;70(1):55-9.
  • 12. Tollefsen S, Arentz-Hansen H, Fleckenstein B, Molberg O, Raki M, Kwok WW, et al. HLA-DQ2 and -DQ8 signatures of gluten T cell epitopes in celiac disease. J Clin Invest 2006;116(8):2226-36.
  • 13. Megiorni F, Pizzuti A. HLA-DQA1 and HLA-DQB1 in Celiac disease predisposition: practical implications of the HLA molecular typing. J Biomed Sci 2012;19:88.
  • 14. Ceylan G, Tekedereli İ. Çölyak Hastalığı Olan Bir Ailede HLA Tiplendirmesi. Gazi Tıp Derg 2009;20(4):181-3.
  • 15. Piccini B, Vascotto M, Serracca L, Luddi A, Margollicci MA, Balestri P, et al. HLA-DQ typing in the diagnostic algorithm of celiac disease. Rev Esp Enferm Dig 2012;104(5):248-54.
  • 16. Castro-Antunes MM, Crovella S, Brandao LA, Guimaraes RL, Motta ME, Silva GA. Frequency distribution of HLA DQ2 and DQ8 in celiac patients and first-degree relatives in Recife, northeastern Brazil. Clinics (Sao Paulo) 2011;66(2):227-31.
  • 17. Karell K, Louka AS, Moodie SJ, Ascher H, Clot F, Greco L, et al. HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease. Hum immunol. 2003;64(4):469-77.
  • 18. Biagi F, Bianchi PI, Vattiato C, Marchese A, Trotta L, Badulli C, et al. Influence of HLA-DQ2 and DQ8 on severity in celiac Disease. J Clin Gastroenterol 2012;46(1):46-50.
  • 19. Tumer L, Altuntas B, Hasanoglu A, Soylemezoglu O, Arinsoy T. Pattern of human leukocyte antigens in Turkish children with celiac disease. Pediatr Int 2000;42(6):678-81.
  • 20. Cintado A, Sorell L, Galvan JA, Martinez L, Castaneda C, Fragoso T, et al. HLA DQA1*0501 and DQB1*02 in Cuban celiac patients. Hum immunol 2006;67(8):639-42.
Toplam 20 adet kaynakça vardır.

Ayrıntılar

Birincil Dil Türkçe
Konular Sağlık Kurumları Yönetimi
Bölüm Orjinal Çalışma
Yazarlar

Elçin Latife Kurtoğlu Bu kişi benim

İbrahim Tekedereli

Yayımlanma Tarihi 26 Nisan 2018
Kabul Tarihi 1 Aralık 2017
Yayımlandığı Sayı Yıl 2018 Cilt: 8 Sayı: 2

Kaynak Göster

APA Kurtoğlu, E. L., & Tekedereli, İ. (2018). Çölyak Hastalığı Ön Tanısı Almış Bireylerde HLA-DQ2 ve HLA-DQ8 Genotip Sıklıkları. Çağdaş Tıp Dergisi, 8(2), 94-97. https://doi.org/10.16899/gopctd.418646
AMA Kurtoğlu EL, Tekedereli İ. Çölyak Hastalığı Ön Tanısı Almış Bireylerde HLA-DQ2 ve HLA-DQ8 Genotip Sıklıkları. J Contemp Med. Haziran 2018;8(2):94-97. doi:10.16899/gopctd.418646
Chicago Kurtoğlu, Elçin Latife, ve İbrahim Tekedereli. “Çölyak Hastalığı Ön Tanısı Almış Bireylerde HLA-DQ2 Ve HLA-DQ8 Genotip Sıklıkları”. Çağdaş Tıp Dergisi 8, sy. 2 (Haziran 2018): 94-97. https://doi.org/10.16899/gopctd.418646.
EndNote Kurtoğlu EL, Tekedereli İ (01 Haziran 2018) Çölyak Hastalığı Ön Tanısı Almış Bireylerde HLA-DQ2 ve HLA-DQ8 Genotip Sıklıkları. Çağdaş Tıp Dergisi 8 2 94–97.
IEEE E. L. Kurtoğlu ve İ. Tekedereli, “Çölyak Hastalığı Ön Tanısı Almış Bireylerde HLA-DQ2 ve HLA-DQ8 Genotip Sıklıkları”, J Contemp Med, c. 8, sy. 2, ss. 94–97, 2018, doi: 10.16899/gopctd.418646.
ISNAD Kurtoğlu, Elçin Latife - Tekedereli, İbrahim. “Çölyak Hastalığı Ön Tanısı Almış Bireylerde HLA-DQ2 Ve HLA-DQ8 Genotip Sıklıkları”. Çağdaş Tıp Dergisi 8/2 (Haziran 2018), 94-97. https://doi.org/10.16899/gopctd.418646.
JAMA Kurtoğlu EL, Tekedereli İ. Çölyak Hastalığı Ön Tanısı Almış Bireylerde HLA-DQ2 ve HLA-DQ8 Genotip Sıklıkları. J Contemp Med. 2018;8:94–97.
MLA Kurtoğlu, Elçin Latife ve İbrahim Tekedereli. “Çölyak Hastalığı Ön Tanısı Almış Bireylerde HLA-DQ2 Ve HLA-DQ8 Genotip Sıklıkları”. Çağdaş Tıp Dergisi, c. 8, sy. 2, 2018, ss. 94-97, doi:10.16899/gopctd.418646.
Vancouver Kurtoğlu EL, Tekedereli İ. Çölyak Hastalığı Ön Tanısı Almış Bireylerde HLA-DQ2 ve HLA-DQ8 Genotip Sıklıkları. J Contemp Med. 2018;8(2):94-7.