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Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome

Yıl 2012, Cilt: 2012 Sayı: 3, 310 - 313, 01.03.2012
https://doi.org/10.5152/balkanmedj.2012.018

Öz

Objective: Monnose-Binding lectin (MBL) appears to play an important role in the immune system. The genetic polymorphisms in the MBL2 gene can result in a reduction of serum levels, leading to a predisposition to recurrent infection. The aim of this study is to investigate the influence of a polymorphism in codon 54 of the MBL2 gene on the susceptibility to Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome (EM, SJS and SJS/TEN overlap syndrome). Material and Methods: Our study included 64 patients who were clinically and/or histopathologically diagnosed with EM, SJS, and SJS/TEN overlap syndrome and 66 healthy control subjects who were genotyped for the MBL2 gene codon 54 polymorphism using the PCR-RFLP method. For all statistical analyses, the level of significance was set at p<0.05. Results: The prevalence of the B allele was 18% in the EM, SJS and SJS/TEN patient groups and 13% in the control group. No significant differences in allele frequencies of any polymorphism were observed between the patient and control groups, although the B allele was more frequent in the patient groups (p=0.328). Conclusion: Our results provide no evidence of a relationship between MBL2 gene codon 54 polymorphism and the susceptibility to EM, SJS and SJS/TEN overlap syndrome. However, these findings should be confirmed in studies with a larger sample size. Turkish Anahtar Kelimeler: Polimorfizm, MBL-2 geni, eritema multiforme, Stevens-Johnson Sendromu, Stevens-Johnson Sendromu/Toksik Epidermal Nekroliz Overlap Sendromu Amaç: Mannoz-bağlayıcı-lektin (MBL) immün sistemde önemli bir rol oynamaktadır. MBL-2 genindeki genetik polimorfizmler serum seviyelerinde bir azalmaya neden olarak tekrarlayan enfeksiyonlara yol açabilirler. Bu çalışmanın amacı MBL-2 kodon 54 gen polimorfizminin eritema multiforme, Stevens-Johnson Sendromu ve Stevens-Johnson Sendromu/Toksik Epidermal Nekroliz Overlap Sendromuna (EM, SJS and SJS/TEN overlap sendromu) yatkınlık üzerindeki etkisini araştırmaktır. Gereç ve Yöntemler: Çalışmamıza klinik ve/veya histopatolojik olarak EM, SJS ve SJS/TEN overlap sendromu tanısı almış 64 hasta ve 66 sağlıklı kontrol dahil edildi. Tüm olgulara PCR- RFLP metodu kullanılarak MBL-2 kodon 54 gen polimorfizmi için genotip analizi yapıldı. Tüm istatistiksel analizler için anlamlılık seviyesi p<0,05 olarak belirlendi. Bulgular: B alel prevalansı EM, SJS ve SJS/TEN hasta grubunda %18, kontrol grubunda ise %13 idi. B aleli hasta grubunda daha yüksek sıklıkta saptanmasına rağmen (p=0,328), hasta ve kontrol grupları arasında polimorfizmin alel frekansları açısından anlamlı farklılık saptanmadı. Sonuç: Elde ettiğimiz bulgular MBL-2 kodon 54 gen polimorfizmi ile EM, SJS ve SJS/TEN overlap sendromuna yatkınlık arasında herhangi bir ilişki olmadığını göstermektedir. Ancak, bu sonuçlar daha geniş olgu sayılı çalışmalarla desteklenmelidir.

Kaynakça

  • Terai I, Kobayashi K, Matsushita M, Miyakawa H, Mafune N, Ki- kuta H. Relationship between gene polymorphisms of Monnose- binding lectin (MBL) and two molecular forms of MBL. Eur J Im- munol 2003;33:2755-63. [CrossRef]
  • Dumestre-Perard C, Ponard D, Arlaud GJ, Monnier N, Sim RB, Co- lomb MG. Evaluation and clinical interest of mannan binding lectin function in human plasma. Mol Immunol 2002;39:465-73. [CrossRef]
  • Fujita T, Matsushita M, Endo Y. The lectin-complement path- way--its role in innate immunity and evolution. Immunol Rev 2004;198:185-202. [CrossRef]
  • Eisen DP, Minchinton RM. Impact of monnose-binding lectin on suscepti- bility to infectious diseases. Clin Infect Dis 2003;37:1496-505. [CrossRef]
  • Garred P, Larsen F, Madsen HO, Koch C. Monnose-binding lectin deficiency--revisited. Mol Immunol 2003;40:73-84. [CrossRef]
  • Forman R, Koren G, Shear NH. Erythema multiforme, Stevens- Johnson syndrome and toxic epidermal necrolysis in children: a re- view of 10 years’ experience. Drug Saf 2002;25:965-72. [CrossRef]
  • Bastuji-Garin S, Rzany B, Stern RS, Shear NH, Naldi L, Roujeau JC. Clinical classification of cases of toxic epidermal necrolysis, Stevens-Johnson syndrome, and erythema multiforme. Arch Der- matol 1993;129:92-6. [CrossRef]
  • French LE, Prins C. Toxic epidermal necrolysis. In:Bolognia JL, Jorizzo JL, Rapini RP, editors. Dermatology St.Louis: Mosby; 2003. 323-31.
  • Sotozono C, Inagaki K, Fujita A, Koizumi N, Sano Y, Inatomi T, et al. Methicillin-resistant Staphylococcus aureus and methicillin- resistant Staphylococcus epidermidis infections in the cornea. Cornea 2002;21:94-101. [CrossRef]
  • Vardar F, Pehlivan S, Onay H, Atlihan F, Güliz N, Ozkinay C, et al. Association between mannose binding lectin polymor- phisms and predisposition to bacterial meningitis. Turk J Pediatr 2007;49:270-3.
  • Roujeau JC, Huynh TN, Bracq C, Guillaume JC, Revuz J, Touraine R. Genetic susceptibility to toxic epidermal necrolysis. Arch Der- matol 1987;123:1171-3. [CrossRef]
  • Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, et al. Medical genetics: a marker for Stevens- Johnson syndrome. Nature 2004;428:486. [CrossRef]
  • Ueta M, Sotozono C, Tokunaga K, Yabe T, Kinoshita S. Strong as- sociation between HLA-A*0206 and Stevens-Johnson syndrome in the Japanese. Am J Ophthalmol 2007;143:367- 8. [CrossRef]
  • Khalil I, Lepage V, Douay C, Morin L, al-Daccak R, Wallach D, et al. HLA DQB1*0301 allele is involved in the susceptibility to erythema multiforme. J Invest Dermatol 1991;97:697-700. [CrossRef]
  • Léauté-Labrèze C, Lamireau T, Chawki D, Maleville J, Taïeb A. Diagno- sis, classification, and management of erythema multiforme and Ste- vens-Johnson syndrome. Arch Dis Child 2000;83:347-52. [CrossRef]
  • Di Lernia V, Lo Scocco G, Bisighini G. Erythema multiforme following hepatitis B vaccine. Pediatr Dermatol 1994;11:363-4. [CrossRef]
  • Griffith RD, Miller OF 3rd. Erythema multiforme following diph- theria and tetanus toxoid vaccination. J Am Acad Dermatol 1988;19:758-9. [CrossRef]
  • Madsen HO, Garred P, Thiel S, Kurtzhals JA, Lamm LU, Ryder LP, et al. Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein. J Immunol 1995;155:3013-20.
  • Im CH, Kim J, Lee YJ, Lee EY, Lee EB, Park KS, et al. Monnose- binding lectin 2 gene haplotype analysis in Korean patients with ankylosing spondylitis. Rheumatol Int 2012;32:2251-5. [CrossRef]
  • Hibberd ML, Sumiya M, Summerfield JA, Booy R, Levin M. As- sociation of variants of the gene for Monnose-binding lectin with susceptibility to meningococcal disease. Meningococcal Re- search Group. Lancet 1999;353:1049-53. [CrossRef]
  • Lipscombe RJ, Sumiya M, Summerfield JA, Turner MW. Distinct physicochemical characteristics of human mannose binding pro- tein expressed by individuals of differing genotype. Immunology 1995;85:660-7.
  • Super M, Thiel S, Lu J, Levinsky RJ, Turner MW. Association of low levels of mannan-binding protein with a common defect of opsonisation. Lancet 1989;2:1236-9. [CrossRef]
  • Seppänen M, Lokki ML, Lappalainen M, Hiltunen-Back E, Rovio AT, Kares S, et al. Monnose-binding lectin 2 gene polymorphism in recurrent herpes simplex virus 2 infection. Hum Immunol 2009;70:218-21. [CrossRef]
  • Hamvas RM, Johnson M, Vlieger AM, Ling C, Sherriff A, Wade A, et al. Role for mannose binding lectin in the prevention of Myco- plasma infection. Infect Immun 2005;73:5238-40. [CrossRef]
  • Hashimoto S, Nakamura K, Oyama N, Kaneko F, Fujita T, Tsunemi Y, et al. Monnose-binding lectin (MBL) single nucleotide poly- morphism is not associated with atopic dermatitis in Japanese patients. J Dermatol 2005;32:1038-40.
  • Aydemir C, Onay H, Oguz SS, Ozdemir TR, Erdeve O, Ozkinay F, et al. Monnose-binding lectin codon 54 gene polymorphism in relation to risk of nosocomial invasive fungal infection in preterm neonates in the neonatal intensive care unit. J Matern Fetal Neo- natal Med 2011;24:1124-7. [CrossRef]
  • Rantala A, Lajunen T, Juvonen R, Bloigu A, Paldanius M, Silven- noinen-Kassinen S, et al. Low Monnose-binding lectin levels and MBL2 gene polymorphisms associate with Chlamydia pneumoni- ae antibodies. Innate Immun 2011;17:35-40. [CrossRef]
  • Ueta M, Sotozono C, Inatomi T, Kojima K, Tashiro K, Hamuro J, et al. Toll-like receptor 3 gene polymorphisms in Japanese patients with Ste- vens-Johnson syndrome. Br J Ophthalmol 2007;91:962-5. [CrossRef]
  • Turan H, Bulbul Baskan E, Yakut T, Karkucak M, Tunali S, Saricao- glu H. Toll-like receptor 9 polymorphism observed with erythema multiforme, stevens johnson syndrome and stevens Johnson syn- drome/toxic epidermal necrolysis overlap syndrome. Bratisl Lek Listy 2011;112; 260-3.

Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome

Yıl 2012, Cilt: 2012 Sayı: 3, 310 - 313, 01.03.2012
https://doi.org/10.5152/balkanmedj.2012.018

Öz

Kaynakça

  • Terai I, Kobayashi K, Matsushita M, Miyakawa H, Mafune N, Ki- kuta H. Relationship between gene polymorphisms of Monnose- binding lectin (MBL) and two molecular forms of MBL. Eur J Im- munol 2003;33:2755-63. [CrossRef]
  • Dumestre-Perard C, Ponard D, Arlaud GJ, Monnier N, Sim RB, Co- lomb MG. Evaluation and clinical interest of mannan binding lectin function in human plasma. Mol Immunol 2002;39:465-73. [CrossRef]
  • Fujita T, Matsushita M, Endo Y. The lectin-complement path- way--its role in innate immunity and evolution. Immunol Rev 2004;198:185-202. [CrossRef]
  • Eisen DP, Minchinton RM. Impact of monnose-binding lectin on suscepti- bility to infectious diseases. Clin Infect Dis 2003;37:1496-505. [CrossRef]
  • Garred P, Larsen F, Madsen HO, Koch C. Monnose-binding lectin deficiency--revisited. Mol Immunol 2003;40:73-84. [CrossRef]
  • Forman R, Koren G, Shear NH. Erythema multiforme, Stevens- Johnson syndrome and toxic epidermal necrolysis in children: a re- view of 10 years’ experience. Drug Saf 2002;25:965-72. [CrossRef]
  • Bastuji-Garin S, Rzany B, Stern RS, Shear NH, Naldi L, Roujeau JC. Clinical classification of cases of toxic epidermal necrolysis, Stevens-Johnson syndrome, and erythema multiforme. Arch Der- matol 1993;129:92-6. [CrossRef]
  • French LE, Prins C. Toxic epidermal necrolysis. In:Bolognia JL, Jorizzo JL, Rapini RP, editors. Dermatology St.Louis: Mosby; 2003. 323-31.
  • Sotozono C, Inagaki K, Fujita A, Koizumi N, Sano Y, Inatomi T, et al. Methicillin-resistant Staphylococcus aureus and methicillin- resistant Staphylococcus epidermidis infections in the cornea. Cornea 2002;21:94-101. [CrossRef]
  • Vardar F, Pehlivan S, Onay H, Atlihan F, Güliz N, Ozkinay C, et al. Association between mannose binding lectin polymor- phisms and predisposition to bacterial meningitis. Turk J Pediatr 2007;49:270-3.
  • Roujeau JC, Huynh TN, Bracq C, Guillaume JC, Revuz J, Touraine R. Genetic susceptibility to toxic epidermal necrolysis. Arch Der- matol 1987;123:1171-3. [CrossRef]
  • Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, et al. Medical genetics: a marker for Stevens- Johnson syndrome. Nature 2004;428:486. [CrossRef]
  • Ueta M, Sotozono C, Tokunaga K, Yabe T, Kinoshita S. Strong as- sociation between HLA-A*0206 and Stevens-Johnson syndrome in the Japanese. Am J Ophthalmol 2007;143:367- 8. [CrossRef]
  • Khalil I, Lepage V, Douay C, Morin L, al-Daccak R, Wallach D, et al. HLA DQB1*0301 allele is involved in the susceptibility to erythema multiforme. J Invest Dermatol 1991;97:697-700. [CrossRef]
  • Léauté-Labrèze C, Lamireau T, Chawki D, Maleville J, Taïeb A. Diagno- sis, classification, and management of erythema multiforme and Ste- vens-Johnson syndrome. Arch Dis Child 2000;83:347-52. [CrossRef]
  • Di Lernia V, Lo Scocco G, Bisighini G. Erythema multiforme following hepatitis B vaccine. Pediatr Dermatol 1994;11:363-4. [CrossRef]
  • Griffith RD, Miller OF 3rd. Erythema multiforme following diph- theria and tetanus toxoid vaccination. J Am Acad Dermatol 1988;19:758-9. [CrossRef]
  • Madsen HO, Garred P, Thiel S, Kurtzhals JA, Lamm LU, Ryder LP, et al. Interplay between promoter and structural gene variants control basal serum level of mannan-binding protein. J Immunol 1995;155:3013-20.
  • Im CH, Kim J, Lee YJ, Lee EY, Lee EB, Park KS, et al. Monnose- binding lectin 2 gene haplotype analysis in Korean patients with ankylosing spondylitis. Rheumatol Int 2012;32:2251-5. [CrossRef]
  • Hibberd ML, Sumiya M, Summerfield JA, Booy R, Levin M. As- sociation of variants of the gene for Monnose-binding lectin with susceptibility to meningococcal disease. Meningococcal Re- search Group. Lancet 1999;353:1049-53. [CrossRef]
  • Lipscombe RJ, Sumiya M, Summerfield JA, Turner MW. Distinct physicochemical characteristics of human mannose binding pro- tein expressed by individuals of differing genotype. Immunology 1995;85:660-7.
  • Super M, Thiel S, Lu J, Levinsky RJ, Turner MW. Association of low levels of mannan-binding protein with a common defect of opsonisation. Lancet 1989;2:1236-9. [CrossRef]
  • Seppänen M, Lokki ML, Lappalainen M, Hiltunen-Back E, Rovio AT, Kares S, et al. Monnose-binding lectin 2 gene polymorphism in recurrent herpes simplex virus 2 infection. Hum Immunol 2009;70:218-21. [CrossRef]
  • Hamvas RM, Johnson M, Vlieger AM, Ling C, Sherriff A, Wade A, et al. Role for mannose binding lectin in the prevention of Myco- plasma infection. Infect Immun 2005;73:5238-40. [CrossRef]
  • Hashimoto S, Nakamura K, Oyama N, Kaneko F, Fujita T, Tsunemi Y, et al. Monnose-binding lectin (MBL) single nucleotide poly- morphism is not associated with atopic dermatitis in Japanese patients. J Dermatol 2005;32:1038-40.
  • Aydemir C, Onay H, Oguz SS, Ozdemir TR, Erdeve O, Ozkinay F, et al. Monnose-binding lectin codon 54 gene polymorphism in relation to risk of nosocomial invasive fungal infection in preterm neonates in the neonatal intensive care unit. J Matern Fetal Neo- natal Med 2011;24:1124-7. [CrossRef]
  • Rantala A, Lajunen T, Juvonen R, Bloigu A, Paldanius M, Silven- noinen-Kassinen S, et al. Low Monnose-binding lectin levels and MBL2 gene polymorphisms associate with Chlamydia pneumoni- ae antibodies. Innate Immun 2011;17:35-40. [CrossRef]
  • Ueta M, Sotozono C, Inatomi T, Kojima K, Tashiro K, Hamuro J, et al. Toll-like receptor 3 gene polymorphisms in Japanese patients with Ste- vens-Johnson syndrome. Br J Ophthalmol 2007;91:962-5. [CrossRef]
  • Turan H, Bulbul Baskan E, Yakut T, Karkucak M, Tunali S, Saricao- glu H. Toll-like receptor 9 polymorphism observed with erythema multiforme, stevens johnson syndrome and stevens Johnson syn- drome/toxic epidermal necrolysis overlap syndrome. Bratisl Lek Listy 2011;112; 260-3.
Toplam 29 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Sağlık Kurumları Yönetimi
Bölüm Makaleler
Yazarlar

Mutlu Karkucak Bu kişi benim

Emel Başkan Bülbül Bu kişi benim

Hakan Turan Bu kişi benim

Tahsin Yakut Bu kişi benim

Sevil Toka Bu kişi benim

Hayriye Sarıcaoğlu Bu kişi benim

Yayımlanma Tarihi 1 Mart 2012
Yayımlandığı Sayı Yıl 2012 Cilt: 2012 Sayı: 3

Kaynak Göster

APA Karkucak, M., Bülbül, E. . B., Turan, H., Yakut, T., vd. (2012). Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome. Balkan Medical Journal, 2012(3), 310-313. https://doi.org/10.5152/balkanmedj.2012.018
AMA Karkucak M, Bülbül EB, Turan H, Yakut T, Toka S, Sarıcaoğlu H. Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome. Balkan Medical Journal. Mart 2012;2012(3):310-313. doi:10.5152/balkanmedj.2012.018
Chicago Karkucak, Mutlu, Emel Başkan Bülbül, Hakan Turan, Tahsin Yakut, Sevil Toka, ve Hayriye Sarıcaoğlu. “Investigation of Monnose-Binding Lectin Gene Polymorphism in Patients With Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome”. Balkan Medical Journal 2012, sy. 3 (Mart 2012): 310-13. https://doi.org/10.5152/balkanmedj.2012.018.
EndNote Karkucak M, Bülbül EB, Turan H, Yakut T, Toka S, Sarıcaoğlu H (01 Mart 2012) Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome. Balkan Medical Journal 2012 3 310–313.
IEEE M. Karkucak, E. . B. Bülbül, H. Turan, T. Yakut, S. Toka, ve H. Sarıcaoğlu, “Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome”, Balkan Medical Journal, c. 2012, sy. 3, ss. 310–313, 2012, doi: 10.5152/balkanmedj.2012.018.
ISNAD Karkucak, Mutlu vd. “Investigation of Monnose-Binding Lectin Gene Polymorphism in Patients With Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome”. Balkan Medical Journal 2012/3 (Mart 2012), 310-313. https://doi.org/10.5152/balkanmedj.2012.018.
JAMA Karkucak M, Bülbül EB, Turan H, Yakut T, Toka S, Sarıcaoğlu H. Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome. Balkan Medical Journal. 2012;2012:310–313.
MLA Karkucak, Mutlu vd. “Investigation of Monnose-Binding Lectin Gene Polymorphism in Patients With Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome”. Balkan Medical Journal, c. 2012, sy. 3, 2012, ss. 310-3, doi:10.5152/balkanmedj.2012.018.
Vancouver Karkucak M, Bülbül EB, Turan H, Yakut T, Toka S, Sarıcaoğlu H. Investigation of Monnose-Binding Lectin gene Polymorphism in Patients with Erythema Multiforme, Stevens-Johnson Syndrome and Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Overlap Syndrome. Balkan Medical Journal. 2012;2012(3):310-3.