Fractalkine receptor polymorphism may not be associated with the development and clinical course of ulcerative colitis

  • Hale Gokcan Ankara Yüksek İhtisas Research and Training Hospital, Department of gastroenterology
  • Erkan Yurtcu Baskent University, Medical Faculty, Deptarment of Medical Biology
  • Haldun Selcuk Baskent University, Medical Faculty, Department of Gastroenterology
  • Feride Iffet Sahin Baskent University, Medical Faculty, Department of Medical Genetics
Keywords: Fractalkine, CX3CR1 polymorphism, ulcerative colitis


Fractalkine (CX3C), a chemokine expressed by epithelial cells within normal and inflamed colorectal mucosa, induces leukocyte adhesion and migration via fractalkine receptor. The aim of this study was to investigate two single nucleotide polymorphisms of the fractalkine receptor gene as a risk factor both for the development and clinical findings of ulcerative colitis. In this study, 51 patients with ulcerative colitis (UC) and 80 controls were recruited. Genotypes of fractalkine receptor c.745G>A (V249I) and c.839C>T (T280M) polymorphisms were identified by restriction fragment length polymorphism analyses after polymerase chain reaction.Genotype distribution and allele frequencies of V249I and T280M were not statistically significantly different between UC and control groups (p>0.05). No statistically significant relationship was found between fractalkine receptor polymorphisms and clinical findings of UC. We observed no significant difference in fractalkine receptor polymorphism between patients and control group and no genotype-phenotype relation. Therefore, we concluded that fractalkine receptor polymorphisms may not contribute to the molecular pathogenesis of UC.



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Proudfoot AE, Power CA, Rommel C, Wells TN. Strategies for chemokine antagonists as therapeutics. Semin Immunol 2003;15(1):57-65. DOI: 10.1016/S1044-5323(02)00128-8.

Van Buul JD, Hordijk PL. Signaling in leukocyte transendotelial migration. Arterioscler Thromb Vasc Biol 2004; 24:824-833. DOI: 10.1161/01.ATV.0000122854.76267.5c.

Bazan JF, Bacon KB, Hardiman G, Wang W, Soo K, Rossi D, et al. A new class of membrane-bound chemokine with a CX3C motif. Nature 1997;385(6617):640-644. DOI: 10.1038/385640a0.

Imai T, Hieshima K, Haskell C, Baba M, Nagira M, Nishimura M, et al. Identification and molecular characterization of fractalkine receptor CX3CR1, which mediates both leukocyte migration and adhesion. Cell 1997;91(4):521-530. DOI: 10.1016/S0092-8674(00)80438-9.

Muehlhoefer A, Saubermann LJ, Gu X, Luedtke-Heckenkamp K, Xavier R, Blumberg RS, et al. Fractalkine is an epithelial and endothelial cell-derived chemoattractant for intraepithelial lymphocytes in the small intestinal mucosa. J Immunol 2000;164(6):3368-3376. DOI: 10.4049/jimmunol.164.6.3368.

Furuichi K, Wada T, Iwata Y, Sakai N, Yoshimoto K, Shimizu M, et al. Upregulation of fractalkine in human crescentic glomerulonephritis. Nephron 2001; 87(4):314-320. DOI: 10.1159/000045936.

Robinson LA, Nataraj C, Thomas DW, Howell DN, Griffiths R, Bautch V, et al. A role for fractalkine and its receptor (CX3CR1) in cardiac allograft rejection. J Immunol 2000;165(11):6067-6072. DOI: 10.4049/jimmunol.165.11.6067.

Imaizumi T, Yoshida H, Satoh K. Regulation of CX3CL1/fractalkine expression in endothelial cells. J Atheroscler Thromb 2004; 11(1):15-21. DOI: 10.5551/jat.11.15.

Chapman GA, Moores KE, Gohil J, Berkhout TA, Patel L, Green P, et al. The role of fractalkine in the recruitment of monocytes to the endothelium.Eur J Pharmacol 2000;392(3):189-195. DOI: 10.1016/S0014-2999(00)00117-5.

Combadiere C, Salzwedel K, Smith ED, Tiffany HL, Berger EA, Murphy PM. Identification of CX3CR1. A chemotactic receptor for the human CX3C chemokine fractalkine and a fusion coreceptor for HIV-1. J Biol Chem 1998; 273(37):23799-23804.DOI: 10.1074/jbc.273.37.23799.

Brand S, Haufbauer K, Dambacher J, Schnitzler F, Staudinger T, Pfennig S, et al. Increased expression of the chemokine fractalkine in Crohn's disease and association of the fractalkine receptor T280M polymorphism with a fibrostenosing disease phenotype. Am J Gastroenterol 2006; 101(1):99-106. DOI: 10.1111/j.1572-0241.2005.00361.x.

McDermott DH, Fong AM, Yang Q, Sechler JM, Cupples LA, Merrell MN, et al. Chemokine receptor mutant CX3CR1-M280 has impaired adhesive function and correlates with protection from cardiovascular disease in humans. J Clin Invest 2003; 111(8):1241-1250. DOI: 10.1172/JCI16790.

Sabate JM, Ameziane N, Lamoril J, Jouet P, Farmachidi JP, Soulé JC, et al. The V249I polymorphism of the CX3CR1 gene is associated with fibrostenotic disease behavior in patients with Crohn's disease. Eur J Gastroenterol Hepatol 2008; 20(8):748-755. DOI: 10.1097/MEG.0b013e3282f824c9.

Dignass A, Eliakim R, Magro F, Maaser C, Chowers Y, Geboes K, et al. Second European evidence-based consensus on the diagnosis and management of ulcerative colitis part 1: definitions and diagnosis. J Crohns Colitis 2012;6(10):965-990. DOI: 10.1016/j.crohns.2012.09.003.

Annese V, Daperno M, Rutter MD, Amiot A, Bossuyt P, East J, et al. European Crohn's and Colitis Organisation.European evidence based consensus for endoscopy in inflammatory bowel disease. J Crohns Colitis 2013;7(12):982-1018. DOI: 10.1016/j.crohns.2013.09.016.

Magro F , Langner C, Driessen A, Ensari A, Geboes K, Mantzaris GJ, et al. European Society of Pathology (ESP); European Crohn's and Colitis Organisation (ECCO). European consensus on the histopathology of inflammatory bowel disease. J Crohns Colitis 2013;7(10):827-851. DOI: 10.1016/j.crohns.2013.06.001.

Tontini GE, Vecchi M, Pastorelli L, Neurath MF, Neumann H. Differential diagnosis in inflammatory bowel disease colitis: state of the art and future perspectives. World J Gastroenterol 2015;21(1):21-46. DOI: 10.3748/wjg.v21.i1.21.

Thomas S, Baumgart DC. Targeting leukocyte migration and adhesion in Crohn's disease and ulcerative colitis. Inflammopharmacology 2012; 20(1):1-18. DOI: 10.1007/s10787-011-0104-6.

Nishimura M, Kuboi Y, Muramoto K, Kawano T, Imai T. Chemokines as novel therapeutic targets for inflammatory bowel disease. Ann N Y Acad Sci 2009; 1173:350-356. DOI: 10.1111/j.1749-6632.2009.04738.x.

Sans M, Danese S, de la Motte C, de Souza HS, Rivera-Reyes BM, West GA, et al. Enhanced recruitment of CX3CR1+ T cells by mucosal endothelial cell-derived fractalkine in inflammatory bowel disease. Gastroenterology 2007; 132(1):139-153. DOI: 10.1053/j.gastro.2006.10.010.

Kobayashi T, Okamoto S, Iwakami Y, Nakazawa A, Hisamatsu T, Chinen H, et al. Exclusive increase of CX3CR1+CD28-CD4+ T cells in inflammatory bowel disease and their recruitment as intraepithelial lymphocytes. Inflamm Bowel Dis 2007; 13(7):837-846.DOI: 10.1002/ibd.20113.

Babakurban ST, Erbek SS, Terzi YK, Arslan F, Sahin FI.Fractalkine receptor polymorphism and chronic tonsillitis.Eur Arch Otorhinolaryngol 2014; 271(7):2045-2048. DOI: 10.1007/s00405-014-2908-7.

Moatti D, Faure S, Fumeron F, Amara Mel-W, Seknadji P, McDermott DH, et al. Polymorphism in the fractalkine receptor CX3CR1 as a genetic risk factor for coronary artery disease. Blood 2001; 97(7):1925–1928. DOI: 10.1182/blood.V97.7.1925.

Courivaud C, Bamoulid J, Loupy A, Deschamps M, Ferrand C, Simula-Faivre D, et al. Influence of fractalkine receptor gene polymorphisms V249I-T280M on cancer occurrence after renal transplantation. Transplantation 2013; 95(5):728–732. DOI: 10.1097/TP.0b013e31827d61cb.

Fransen K, Mitrovic M, van Diemen CC, Weersma RK. The quest for genetic risk factors for Crohn's disease in the post-GWAS era. Genome Med 2011;3:13.

Duerr RH, Taylor KD, Brant SR, Rioux JD, Silverberg MS, Daly MJ, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006; 314(5804):1461-1463. DOI: 10.1126/science.1135245.

Jostins L, Ripke S, Weersma RK, Duerr RH, McGovern DP, Hui KY, et al. Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012;491(7422):119-124. DOI: 10.1038/nature11582.

Thompson AI, Lees CW. Genetics of ulcerative colitis. Inflamm Bowel Dis 2011; 17(3):831-848. DOI: 10.1002/ibd.21375.

Mannon PJ, Fuss IJ, Mayer L, Elson CO, Sandborn WJ, Present D, et al. Anti-IL-12 Crohn's Disease Study Group: Anti-interleukin-12 antibody for active Crohn’s disease. N Engl J Med 2004;351:2069–2079. DOI: 10.1056/NEJMoa033402.

Gálvez J. Role of Th17 Cells in the Pathogenesis of Human IBD. ISRN Inflamm 2014;2014:928461. DOI: 10.1155/2014/928461.

How to Cite
Gokcan H, Yurtcu E, Selcuk H, Sahin FI. Fractalkine receptor polymorphism may not be associated with the development and clinical course of ulcerative colitis. Bosn J of Basic Med Sci [Internet]. 2015May25 [cited 2019Nov.14];15(2):73-7. Available from:
Translational and Clinical Research