Yıl: 2017 Cilt: 34 Sayı: 2 Sayfa Aralığı: 83 - 87 Metin Dili: İngilizce İndeks Tarihi: 29-07-2022

Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey

Öz:
Behçet’s disease (BD) is a severe inflammatory vasculitis which is very common among Turkish population. Recently, IRGM1 (rs13361189), PTGER4 (rs1373692) and CARD8 (rs2043211) polymorphisms are shown to be associated with several inflammatory diseases. In this study, we investigated the association of IRGM1 (rs13361189), PTGER4 (rs1373692) and CARD8 (rs2043211) polymorphisms with BD and their probable implications on clinical manifestations of BD in a Turkish patient cohort. 116 patients and 150 healthy controls genomic DNA were studied. Allele-specific primers were used for genotyping. No significant difference was found between patient and controls according to genotypic distribution and allelic frequencies of IRGM1 (rs13361189), PTGER4 (rs1373692) and CARD8 (rs2043211) (p>0.05). No statistically significant difference was found in genotypic or allellic distribution of the same polymorphisms according to gender or clinical characteristics between patients and controls (p>0.05). Our study is to our knowledge the first report from Turkey regarding BD and IRGM1 (rs13361189), PTGER4 (rs1373692) and CARD8 (rs2043211) polymorphisms. IRGM gene polymorphisms seems to cause predilection for autoimmunity in certain ethnic groups but not in Turkish BD patients. CARD8 gene polymorphisms and other inflammasome related genes may play a role in immune pathomechanisms in BD and separate studies including BD patients with similar clinical characteristics are required for investigating different SNPs as a probable disease susceptibility factor.
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  • Ben Hamad, M., Cornelis, F., Marzouk, S., Chabchoub, G., Bahloul, Z., Rebai, A., Fakhfakh, F., Ayadi, H., Petit-Teixeira, E.,
  • Maalej, A., 2012. Association study of CARD8 (p.C10X) and NLRP3 (p.Q705K) variants with rheumatoid arthritis in French and Tunisian populations. Int. J. Immunogenet. 39, 131-136. oi: 10.1111/j.1744-313X.2011.01070.x.
  • Carlström, M., Ekman, A.K., Petersson, S., Söderkvist, P., Enerbäck, C., 2012. Genetic support for the role of the NLRP3 inflammasome in psoriasis susceptibility. Exp. Dermatol. 21, 932-937. doi: 10.1111/exd.12049.
  • Chai, W., Lian, Z., Chen, C., Liu, J., Shi, L.L., Wang, Y., 2013. JARID1A, JMY, and PTGER4 polymorphisms are related to ankylosing spondylitis in chinese han patients: A Case-Control Study. PLoS One. 8, e74794. doi: 10.1371/journal.pone.0074794.
  • Mat, C., Yurdakul, S., Sevim, A., Özyazgan, Y., Tüzün, Y., 2013. Behçet’s syndrome: Facts and controversies. Clin. Dermatol. 31, 352-361. doi: 10.1016/j.clindermatol.2013.01.002.
  • Direskeneli, H., 2006. Autoimmunity vs autoinflammation in Behcet’s disease: Do we oversimplify a complex disorder? Rheumatology (Oxford). 45, 1461-1465.
  • Durães, C., Machado, J.C., Portela, F., Rodrigues, S., Lago, P., Cravo, M., Ministro, P., Marques, M., Cremers, I., Freitas, J., Cotter, J., Tavares, L., Matos, L., Medeiros, I., Sousa, R., Ramos, J., Deus, J., Caldeira, P., Chagas, C., Duarte, M.A., Gonçalves, R., Loureiro, R., Barros, L., Bastos, I., Cancela, E., Moraes, M.C., Moreira, M.J., Vieira, A.I., Magro, F., 2013. Phenotypegenotype profiles in Crohn’s disease predicted by genetic markers in autophagy-related genes (GOIA study II). Inflamm Bowel Dis. 19, 230-239. doi: 10.1002/ibd.23007.
  • Glas, J., Seiderer, J., Czamara, D., Pasciuto, G., Diegelmann, J., Wetzke, M., Olszak, T., Wolf, C., Müller-Myhsok, B., Balschun, T., Achkar, J.P., Kamboh, M.I., Franke, A., Duerr, R.H., Brand, S., 2012. PTGER4 expression-modulating polymorphisms in the 5p13.1 region predispose to Crohn’s disease and affect NF-κB and XBP1 binding sites. PLoS One. 7, e52873. doi: 10.1371/ journal.pone.0052873.
  • Gül, A., 2001. Behçet’s disease: An update on the pathogenesis. Clin. Exp. Rheumatol. 19, S6-12.
  • Kaneko, F., Togashi, A., Saito, S., Sakuma, H., Oyama, N., Nakamura, K., Yokota, K., Oguma, K., 2011. Behçet’s disease (Adamantiades-Behçet’s disease). Clin. Dev. Immunol. 2011: 681956. doi: 10.1155/2011/681956.
  • Kaneko, F., Oyama, N., Yanagihori, H., Isogai, E., Yokota, K., Oguma, K., 2008. The role of streptococcal hypersensitivity in the pathogenesis of Behçet’s Disease. Eur. J. Dermatol. 18, 489-498. doi: 10.1684/ejd.2008.0484.
  • Krause, I., Weinberger, A., 2008. Behçet’s disease. Curr. Opin. Rheumatol. 20, 82-87.
  • Latiano, A., Palmieri, O., Latiano, T., Corritore, G., Bossa, F., Martino, G., Biscaglia, G., Scimeca, D., Valvano, M.R., Pastore, M.,
  • Marseglia, A., D’Incà R, Andriulli, A., Annese, V., 2011. Investigation of multiple susceptibility loci for inflammatory bowel disease in an Italian cohort of patients. PLoS One. 6, e22688.
  • Liang, L., Tan, X., Zhou, Q., Zhu, Y., Tian, Y., Yu, H., Kijlstra, A., Yang, P., 2013. IL-1β triggered by peptidoglycan and lipopolysaccharide through TLR2/4 and ROS-NLRP3 inflammasome-dependent pathways is involved in ocular Behçet’s disease. Invest. Ophthalmol Vis. Sci. 54, 402-414.
  • Libioulle, C., Louis, E., Hansoul, S., Sandor, C., Farnir, F., Franchimont, D., Vermeire, S., Dewit, O., de Vos M, Dixon, A., Demarche, B., Gut, I., Heath, S., Foglio, M., Liang, L., Laukens, D., Mni, M., Zelenika, D., Van Gossum, A., Rutgeerts, P.,
  • Belaiche, J., Lathrop, M., Georges, M., 2007. Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4. PLoS Genet. 20;3, e58.
  • Meggyesi, N., Kiss, L.S., Koszarska, M., Bortlik, M., Duricova, Lakatos, L., Molnar, T., Leniček, M., Vítek, L., Altorjay, I., Papp, M., Tulassay, Z., Miheller, P., Papp, J., Tordai, A., Andrikovics, H., Lukas, M., Lakatos, PL., 2010. NKX2-3 and IRGM variants are associated with disease susceptibility to IBD in Eastern European patients. World J. Gastroenterol. 16, 5233-5240.
  • Palomino-Morales, R.J., Oliver, J., Gómez-García, M., López-Nevot, M.A., Rodrigo, L., Nieto, A., Alizadeh, B.Z., Martín, J., 2009. Association of ATG16L1 and IRGM genes polymorphisms with inflammatory bowel disease: A meta-analysis approach. Genes Immun. 10, 356-364. doi: 10.1038/gene.2009.25
  • Prescott, N.J., Dominy, K.M., Kubo, M., Lewis, C.M., Fisher, S.A., Redon, R., Huang, N., Stranger, B.E., Blaszczyk, K., Hudspith, B., Parkes, G., Hosono, N., Yamazaki, K., Onnie, C.M., Forbes, A.,
  • Dermitzakis, E.T., Nakamura, Y., Mansfield, J.C., Sanderson, J., Hurles, M.E., Roberts, R.G., Mathew, C.G., 2010. Independent and population-specific association of risk variants at the IRGM locus with Crohn’s disease. Hum Mol Genet. 19, 1828-1839. doi: 10.1093/hmg/ddq041.
  • Roberts, R.L., Hollis-Moffatt, J.E., Gearry, R.B., Kennedy, M.A., Barclay, M.L., Merriman, T.R., 2008. Confirmation of association of IRGM and NCF4 with ileal Crohn’s disease in a population-based cohort. Genes Immun. 9, 561-565. doi: 10.1038/ gene.2008.49.
  • Roberts, R.L., Topless, R.K., Phipps-Green, A.J., Gearry, R.B., Barclay, M.L., Merriman, T.R., 2010. Evidence of interaction of CARD8 rs2043211 with NALP3 rs35829419 in Crohn’s disease. Genes Immun. 11, 351-356. doi: 10.1038/gene.2010.11.
  • Seyahi, E., Tahir Turanli, E., Mangan, M.S., Celikyapi, G., Oktay, V., Cevirgen, D., Kuzuoglu, D., Ozoglu, S., Yazici, H., 2010.
  • The prevalence of Behçet’s syndrome, familial Mediterranean fever, HLA-B51 and MEFV gene mutations among ethnic Armenians living in Istanbul, Turkey. Clin. Exp. Rheumatol. 28, S67-75.
  • Yang, S.K., Kim, H., Hong, M., Lim, J., Choi, E., Ye, B.D., Park, S.K., Song, K., 2011. Association of CARD8 with inflammatory bowel disease in Koreans. J Hum Genet. 56, 217-223. doi: 10.1038/jhg.2010.170.
APA DOĞAN GÜNAYDIN S, Yalcin B, ATAKAN Z, Yorulmaz A, Artüz R (2017). Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. , 83 - 87.
Chicago DOĞAN GÜNAYDIN SİBEL,Yalcin Basak,ATAKAN ZEHRA NİLGÜN,Yorulmaz Ahu,Artüz Refika Ferda Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. (2017): 83 - 87.
MLA DOĞAN GÜNAYDIN SİBEL,Yalcin Basak,ATAKAN ZEHRA NİLGÜN,Yorulmaz Ahu,Artüz Refika Ferda Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. , 2017, ss.83 - 87.
AMA DOĞAN GÜNAYDIN S,Yalcin B,ATAKAN Z,Yorulmaz A,Artüz R Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. . 2017; 83 - 87.
Vancouver DOĞAN GÜNAYDIN S,Yalcin B,ATAKAN Z,Yorulmaz A,Artüz R Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. . 2017; 83 - 87.
IEEE DOĞAN GÜNAYDIN S,Yalcin B,ATAKAN Z,Yorulmaz A,Artüz R "Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey." , ss.83 - 87, 2017.
ISNAD DOĞAN GÜNAYDIN, SİBEL vd. "Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey". (2017), 83-87.
APA DOĞAN GÜNAYDIN S, Yalcin B, ATAKAN Z, Yorulmaz A, Artüz R (2017). Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. Journal of Experimental and Clinical Medicine, 34(2), 83 - 87.
Chicago DOĞAN GÜNAYDIN SİBEL,Yalcin Basak,ATAKAN ZEHRA NİLGÜN,Yorulmaz Ahu,Artüz Refika Ferda Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. Journal of Experimental and Clinical Medicine 34, no.2 (2017): 83 - 87.
MLA DOĞAN GÜNAYDIN SİBEL,Yalcin Basak,ATAKAN ZEHRA NİLGÜN,Yorulmaz Ahu,Artüz Refika Ferda Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. Journal of Experimental and Clinical Medicine, vol.34, no.2, 2017, ss.83 - 87.
AMA DOĞAN GÜNAYDIN S,Yalcin B,ATAKAN Z,Yorulmaz A,Artüz R Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. Journal of Experimental and Clinical Medicine. 2017; 34(2): 83 - 87.
Vancouver DOĞAN GÜNAYDIN S,Yalcin B,ATAKAN Z,Yorulmaz A,Artüz R Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. Journal of Experimental and Clinical Medicine. 2017; 34(2): 83 - 87.
IEEE DOĞAN GÜNAYDIN S,Yalcin B,ATAKAN Z,Yorulmaz A,Artüz R "Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey." Journal of Experimental and Clinical Medicine, 34, ss.83 - 87, 2017.
ISNAD DOĞAN GÜNAYDIN, SİBEL vd. "Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey". Journal of Experimental and Clinical Medicine 34/2 (2017), 83-87.