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

Year 2017, Volume: 34 Issue: 2, 83 - 87, 08.09.2017

Abstract















Behçet’s disease (BD) is a severe in ammatory vasculitis which is very
common among Turkish population. Recently, IRGM1 (rs13361189), PTGER4
(rs1373692) and CARD8 (rs2043211) polymorphisms are shown to be
associated with several in ammatory 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-speci c primers were
used for genotyping. No signi cant 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 signi cant 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 rst 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 in ammasome
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. 







References

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Direskeneli, H., 2006. Autoimmunity vs autoin ammation 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. Phenotype- genotype pro les in Crohn’s disease predicted by genetic markers in autophagy-related genes (GOIA study II). In amm 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 in ammatory 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 in ammasome-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 identi ed 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 in ammatory 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., Mans eld, J.C., Sanderson, J., Hurles, M.E., Roberts, R.G., Mathew, C.G., 2010. Independent and population-speci c 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. Con rmation 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 in ammatory bowel disease in Koreans. J Hum Genet. 56, 217-223. doi: 10.1038/jhg.2010.170.
Year 2017, Volume: 34 Issue: 2, 83 - 87, 08.09.2017

Abstract

References

  • 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 in ammasome 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 autoin ammation 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. Phenotype- genotype pro les in Crohn’s disease predicted by genetic markers in autophagy-related genes (GOIA study II). In amm 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 in ammatory 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 in ammasome-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 identi ed 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 in ammatory 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., Mans eld, J.C., Sanderson, J., Hurles, M.E., Roberts, R.G., Mathew, C.G., 2010. Independent and population-speci c 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. Con rmation 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 in ammatory bowel disease in Koreans. J Hum Genet. 56, 217-223. doi: 10.1038/jhg.2010.170.
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Details

Journal Section Surgery Medical Sciences
Authors

Sibel Dogan

Basak Yalcin This is me

Nilgun Atakan This is me

Ahu Yorulmaz This is me

Ferda Artuz This is me

Publication Date September 8, 2017
Submission Date September 7, 2017
Acceptance Date June 20, 2016
Published in Issue Year 2017 Volume: 34 Issue: 2

Cite

APA Dogan, S., Yalcin, B., Atakan, N., Yorulmaz, A., et al. (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.
AMA Dogan S, Yalcin B, Atakan N, Yorulmaz A, Artuz F. Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. J. Exp. Clin. Med. September 2017;34(2):83-87.
Chicago Dogan, Sibel, Basak Yalcin, Nilgun Atakan, Ahu Yorulmaz, and Ferda Artuz. “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 (September 2017): 83-87.
EndNote Dogan S, Yalcin B, Atakan N, Yorulmaz A, Artuz F (September 1, 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.
IEEE S. Dogan, B. Yalcin, N. Atakan, A. Yorulmaz, and F. Artuz, “Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey”, J. Exp. Clin. Med., vol. 34, no. 2, pp. 83–87, 2017.
ISNAD Dogan, Sibel et al. “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 (September 2017), 83-87.
JAMA Dogan S, Yalcin B, Atakan N, Yorulmaz A, Artuz F. Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. J. Exp. Clin. Med. 2017;34:83–87.
MLA Dogan, Sibel et al. “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, pp. 83-87.
Vancouver Dogan S, Yalcin B, Atakan N, Yorulmaz A, Artuz F. Lack of association between IRGM1 (rs13361189), PTGER4 (rs 1373692) and CARD8 (rs 2043211) polymorphism and Behçet’s disease: A study from Turkey. J. Exp. Clin. Med. 2017;34(2):83-7.