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Ankilozan Spondilit Düşünülen Olgularda HLA-B*27 ve CYP2D6*4 Allellerinin Sıklığı

Year 2016, Volume: 5 Issue: 2, 1 - 4, 01.10.2016

Abstract

Ankilozan spondilit AS , birincil olarak spinal ve sakroiliak eklemleri etkileyen ve oldukça yaygın olan kronik inflamatuar artropatidir. HLA-B*27, AS ile güçlü ilişkisinden dolayı en fazla çalışılan HLA sınıf I allellerinden biridir. HLA genleri dışında Sitokrom P450 2D6 CYP2D6 geninin zayıf metabolize edici genotipinin de AS ile ilişkili olduğu belirtilmektedir. Bu çalışmada, Tıbbi Biyoloji ve Genetik Anabilim Dalı’na AS ön tanısı ile refere edilen olgularda HLA-B*27 ve CYP2D6*4 allellerinin dağılımını belirlemek amaçlanmıştır. Bu amaçla periferal kandan izole edilen DNA’dan HLA-B*27 ve CYP2D6*4 allelerine özgü bölgelerin polimeraz zincir reaksiyonu ile amplifiye edilmesinin ardından ters hibridizasyon yöntemi kullanılarak çalışılmış ve sonuçlar analiz edilmiştir. Bölgemiz için ilk kez rapor edilen bulgularımıza göre 336 olgu arasında, 119’unun %35.41 yalnızca HLA-B*27 alleline sahip olduğu belirlenmiştir. CYP2D6*4 mutasyonu bakımından ise olguların 66’sının %19.64 heterozigot, 6’sının %1.78 homozigot olduğu ve 264’ünün %78.57 ise CYP2D6*4 allelini taşımadığı bulunmuştur. Tüm olguların 31 tanesinde %9.22 ise HLA-B*27 ve CYP2D6*4 allellerinin birlikte bulunduğu belirlenmiştir

References

  • 1. Popa OM, Bojinca M, Bojinca V, Ciofu C, Dutescu MI, Bardan A, et al. Distribution of HLA-B27 in Romanian spondyloarthritides patients. Int J Immunogenet 2010; 37(6): 513-6.
  • 2. Dean LE, Jones GT, MacDonald AG, Downham C, Sturrock RD, Macfarlane GJ. Global prevalence of ankylosing spondylitis. Rheumatol 2014; 53(4): 650-7.
  • 3. Liu X, Li YR, Hu LH, Zhou ZM, Chen FH, Ning Y, et al. High frequencies of HLA-B27 in Chinese patients with suspected of ankylosing spondylitis. Rheumatol Int 2010; 30(10): 1305-9.
  • 4. Ben Radhia K, Ayed-Jendoubi S, Sfar I, Ben Romdhane T, Makhlouf M, Gorgi Y, et al. Distribution of HLA-B*27 subtypes in Tunisians and their association with ankylosing spondylitis. Joint, bone, spine : revue du rhumatisme. 2008; 75(2): 172-5.
  • 5. Sorrentino R, Bockmann RA, Fiorillo MT. HLAB27 and antigen presentation: At the crossroads between immune defense and autoimmunity. Mol Immunol 2014; 7(1): 22-7.
  • 6. Oguz FS, Ocal L, Diler AS, Ozkul H, Asicioglu F, Kasapoglu E, et al. HLA B-27 subtypes in turkish patients with spondyloarthropathy and healthy controls. Dis Markers 2004; 20(6): 309-12.
  • 7. Beyeler C, Armstrong M, Bird HA, Idle JR, Daly AK. Relationship between genotype for the cytochrome P450 CYP2D6 and susceptibility to ankylosing spondylitis and rheumatoid arthritis. Ann Rheum Dis 1996; 55(1): 66-8.
  • 8. Brown MA, Pile KD, Kennedy LG, Campbell D, Andrew L, March R, et al. A genome-wide screen for susceptibility loci in ankylosing spondylitis. Arthritis Rheumatol 1998; 41(4): 588-95.
  • 9. Reveille JD, Ball EJ, Khan MA. HLA-B27 and genetic predisposing factors in spondyloarthropathies. Curr Opin Rheumatol 2001l; 13(4): 265-72.
  • 10.Inanır AY, S. Sariyildiz, MA. Sogut, E. Outcomes of Turkish Ankylosing Spondylitis Patients. Eur J Gen Med. 2013; 10(3): 145-9.
  • 11.Brown MA, Edwards S, Hoyle E, Campbell S, Laval S, Daly AK, et al. Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis. Human Mol Genet 2000; 1; 9(11): 1563-6.
  • 12. Sahin S, Aydogan L, Benli I, Ozyurt H. Distribution of HLA-B27 and CYP2D6*4 mutations in the middle Black Sea area (Tokat) of Turkey. Genet Mol Res: GMR 2011; 10(4): 3987- 91.
  • 13.Roberts RL, Wallace MC, Jones GT, van Rij AM, Merriman TR, Harrison A, et al. Prevalence of HLA-B27 in the New Zealand population: effect of age and ethnicity. Arthritis Res Ther 2013; 15(5): R158.
  • 14. Acar M, Cora T, Tunc R, Acar H. HLA-B27 subtypes in Turkish patients with ankylosing spondylitis and healthy controls. Rheumatol Int 2012; 32(10): 3103-5.
  • 15. Gul A, Uyar FA, Inanc M, Ocal L, Barrett JH, Aral O, et al. A weak association of HLA-B*2702 with Behcet's disease. Gen Immun 2002; 3(6): 368-72.
  • 16. Gunal EK, Sarvan FO, Karnali S, Gul A, Inanc M, Carin M, et al. Low frequency of HLA-B27 in ankylosing spondylitis patients from Turkey. Joint, bone, spine: revue du rhumatisme 2008; 75(3): 299-302.
  • 17. Harfouch EI, Al-Cheikh SA. HLA-B27 and its subtypes in Syrian patients with ankylosing spondylitis. Saudi Med J 2011; 32(4): 364-8.
  • 18. Diyarbakır EE, N. Uzkeser, H. Karatay, S. Topçu, A. Yıldırım, K. Pirim, İ. The Distribution of HLAB27 in Patients with Ankylosing Spondylitis in Eastern Anatolia. İnönü Üniversitesi Tıp Fakültesi Dergisi 2012; 19(1): 23-5.
  • 19. Diyarbakir E, Eyerci N, Melikoglu M, Topcu A, Pirim I. HLA B27 Subtype Distribution Among Patients with Ankylosing Spondylitis in Eastern Turkey. Genet Test Mol Bioma 2012; 16(5): 456- 8.
  • 20.Ciurea A, Scherer A, Weber U, Neuenschwander R, Tamborrini G, Exer P, et al. Age at symptom onset in ankylosing spondylitis: is there a gender difference? Ann Rheum Dis 2014; 73(10): 1908- 10.
  • 21.Jaakkola E, Herzberg I, Laiho K, Barnardo MCNM, Pointon JJ, Kauppi M, et al. Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis. Ann Rheum Dis 2006; 65(6): 775-80.
  • 22.Reveille JD. An update on the contribution of the MHC to as susceptibility. Clin Rheumatol 2014; 33(6): 749-57.
  • 23.Brown MA. Non-major-histocompatibilitycomplex genetics of ankylosing spondylitis. Best Pract Res Cl Rh 2006; 20(3): 611-21.

The Frequencies of CYP2D6*4 and HLA-B*27 Alleles in Cases of Suspected Ankylosing Spondylitis

Year 2016, Volume: 5 Issue: 2, 1 - 4, 01.10.2016

Abstract

Ankylosing spondylitis AS is common chronic inflammatory arthropathy that primarily affects the spinal joints and sacroiliac joints. HLA-B*27 has been one of the most studied HLA class I allele because of its strong association with AS. Outside HLA genes, poor metabolizer genotype of Cytochrome P450 2D6 CYP2D6 gene are also reported to be associated with AS. In this study, it was aimed to determine the distribution of HLA-B*27 and CYP2D6*4 alleles in patients with the prediagnosis of AS that referred to Medical Biology and Genetics Department. For this purpose, reverse hybridization was studied and results were analyzed after the amplification with PCR of HLA-B*27 and CYP2D6*4 allel specific regions from DNA that isolated from the peripheral blood. According to our findings which are reported the first time in our region, among the 336 patients, we determined 119 35.41% cases had only HLA-B27 allele. In respect to CYP2D6*4 mutation, 66 19.64% of cases were heterozygous, 6 1.78% of the cases were homozygous and 264 %78.57 of the cases had no CYP2D6*4 allele were determined. Moreover, we observed that in all of the cases, 31 9.22% cases had both HLA-B*27 and CYP2D6*4 allele together

References

  • 1. Popa OM, Bojinca M, Bojinca V, Ciofu C, Dutescu MI, Bardan A, et al. Distribution of HLA-B27 in Romanian spondyloarthritides patients. Int J Immunogenet 2010; 37(6): 513-6.
  • 2. Dean LE, Jones GT, MacDonald AG, Downham C, Sturrock RD, Macfarlane GJ. Global prevalence of ankylosing spondylitis. Rheumatol 2014; 53(4): 650-7.
  • 3. Liu X, Li YR, Hu LH, Zhou ZM, Chen FH, Ning Y, et al. High frequencies of HLA-B27 in Chinese patients with suspected of ankylosing spondylitis. Rheumatol Int 2010; 30(10): 1305-9.
  • 4. Ben Radhia K, Ayed-Jendoubi S, Sfar I, Ben Romdhane T, Makhlouf M, Gorgi Y, et al. Distribution of HLA-B*27 subtypes in Tunisians and their association with ankylosing spondylitis. Joint, bone, spine : revue du rhumatisme. 2008; 75(2): 172-5.
  • 5. Sorrentino R, Bockmann RA, Fiorillo MT. HLAB27 and antigen presentation: At the crossroads between immune defense and autoimmunity. Mol Immunol 2014; 7(1): 22-7.
  • 6. Oguz FS, Ocal L, Diler AS, Ozkul H, Asicioglu F, Kasapoglu E, et al. HLA B-27 subtypes in turkish patients with spondyloarthropathy and healthy controls. Dis Markers 2004; 20(6): 309-12.
  • 7. Beyeler C, Armstrong M, Bird HA, Idle JR, Daly AK. Relationship between genotype for the cytochrome P450 CYP2D6 and susceptibility to ankylosing spondylitis and rheumatoid arthritis. Ann Rheum Dis 1996; 55(1): 66-8.
  • 8. Brown MA, Pile KD, Kennedy LG, Campbell D, Andrew L, March R, et al. A genome-wide screen for susceptibility loci in ankylosing spondylitis. Arthritis Rheumatol 1998; 41(4): 588-95.
  • 9. Reveille JD, Ball EJ, Khan MA. HLA-B27 and genetic predisposing factors in spondyloarthropathies. Curr Opin Rheumatol 2001l; 13(4): 265-72.
  • 10.Inanır AY, S. Sariyildiz, MA. Sogut, E. Outcomes of Turkish Ankylosing Spondylitis Patients. Eur J Gen Med. 2013; 10(3): 145-9.
  • 11.Brown MA, Edwards S, Hoyle E, Campbell S, Laval S, Daly AK, et al. Polymorphisms of the CYP2D6 gene increase susceptibility to ankylosing spondylitis. Human Mol Genet 2000; 1; 9(11): 1563-6.
  • 12. Sahin S, Aydogan L, Benli I, Ozyurt H. Distribution of HLA-B27 and CYP2D6*4 mutations in the middle Black Sea area (Tokat) of Turkey. Genet Mol Res: GMR 2011; 10(4): 3987- 91.
  • 13.Roberts RL, Wallace MC, Jones GT, van Rij AM, Merriman TR, Harrison A, et al. Prevalence of HLA-B27 in the New Zealand population: effect of age and ethnicity. Arthritis Res Ther 2013; 15(5): R158.
  • 14. Acar M, Cora T, Tunc R, Acar H. HLA-B27 subtypes in Turkish patients with ankylosing spondylitis and healthy controls. Rheumatol Int 2012; 32(10): 3103-5.
  • 15. Gul A, Uyar FA, Inanc M, Ocal L, Barrett JH, Aral O, et al. A weak association of HLA-B*2702 with Behcet's disease. Gen Immun 2002; 3(6): 368-72.
  • 16. Gunal EK, Sarvan FO, Karnali S, Gul A, Inanc M, Carin M, et al. Low frequency of HLA-B27 in ankylosing spondylitis patients from Turkey. Joint, bone, spine: revue du rhumatisme 2008; 75(3): 299-302.
  • 17. Harfouch EI, Al-Cheikh SA. HLA-B27 and its subtypes in Syrian patients with ankylosing spondylitis. Saudi Med J 2011; 32(4): 364-8.
  • 18. Diyarbakır EE, N. Uzkeser, H. Karatay, S. Topçu, A. Yıldırım, K. Pirim, İ. The Distribution of HLAB27 in Patients with Ankylosing Spondylitis in Eastern Anatolia. İnönü Üniversitesi Tıp Fakültesi Dergisi 2012; 19(1): 23-5.
  • 19. Diyarbakir E, Eyerci N, Melikoglu M, Topcu A, Pirim I. HLA B27 Subtype Distribution Among Patients with Ankylosing Spondylitis in Eastern Turkey. Genet Test Mol Bioma 2012; 16(5): 456- 8.
  • 20.Ciurea A, Scherer A, Weber U, Neuenschwander R, Tamborrini G, Exer P, et al. Age at symptom onset in ankylosing spondylitis: is there a gender difference? Ann Rheum Dis 2014; 73(10): 1908- 10.
  • 21.Jaakkola E, Herzberg I, Laiho K, Barnardo MCNM, Pointon JJ, Kauppi M, et al. Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis. Ann Rheum Dis 2006; 65(6): 775-80.
  • 22.Reveille JD. An update on the contribution of the MHC to as susceptibility. Clin Rheumatol 2014; 33(6): 749-57.
  • 23.Brown MA. Non-major-histocompatibilitycomplex genetics of ankylosing spondylitis. Best Pract Res Cl Rh 2006; 20(3): 611-21.
There are 23 citations in total.

Details

Primary Language Turkish
Journal Section Research Article
Authors

Elçin Latife Kurtoğlu This is me

Gonca Gülbay This is me

Elif Yeşilada This is me

İbrahim Tekedereli This is me

Publication Date October 1, 2016
Published in Issue Year 2016 Volume: 5 Issue: 2

Cite

APA Kurtoğlu, E. L., Gülbay, G., Yeşilada, E., Tekedereli, İ. (2016). Ankilozan Spondilit Düşünülen Olgularda HLA-B*27 ve CYP2D6*4 Allellerinin Sıklığı. Annals of Health Sciences Research, 5(2), 1-4.
AMA Kurtoğlu EL, Gülbay G, Yeşilada E, Tekedereli İ. Ankilozan Spondilit Düşünülen Olgularda HLA-B*27 ve CYP2D6*4 Allellerinin Sıklığı. Ann Health Sci Res. October 2016;5(2):1-4.
Chicago Kurtoğlu, Elçin Latife, Gonca Gülbay, Elif Yeşilada, and İbrahim Tekedereli. “Ankilozan Spondilit Düşünülen Olgularda HLA-B*27 Ve CYP2D6*4 Allellerinin Sıklığı”. Annals of Health Sciences Research 5, no. 2 (October 2016): 1-4.
EndNote Kurtoğlu EL, Gülbay G, Yeşilada E, Tekedereli İ (October 1, 2016) Ankilozan Spondilit Düşünülen Olgularda HLA-B*27 ve CYP2D6*4 Allellerinin Sıklığı. Annals of Health Sciences Research 5 2 1–4.
IEEE E. L. Kurtoğlu, G. Gülbay, E. Yeşilada, and İ. Tekedereli, “Ankilozan Spondilit Düşünülen Olgularda HLA-B*27 ve CYP2D6*4 Allellerinin Sıklığı”, Ann Health Sci Res, vol. 5, no. 2, pp. 1–4, 2016.
ISNAD Kurtoğlu, Elçin Latife et al. “Ankilozan Spondilit Düşünülen Olgularda HLA-B*27 Ve CYP2D6*4 Allellerinin Sıklığı”. Annals of Health Sciences Research 5/2 (October 2016), 1-4.
JAMA Kurtoğlu EL, Gülbay G, Yeşilada E, Tekedereli İ. Ankilozan Spondilit Düşünülen Olgularda HLA-B*27 ve CYP2D6*4 Allellerinin Sıklığı. Ann Health Sci Res. 2016;5:1–4.
MLA Kurtoğlu, Elçin Latife et al. “Ankilozan Spondilit Düşünülen Olgularda HLA-B*27 Ve CYP2D6*4 Allellerinin Sıklığı”. Annals of Health Sciences Research, vol. 5, no. 2, 2016, pp. 1-4.
Vancouver Kurtoğlu EL, Gülbay G, Yeşilada E, Tekedereli İ. Ankilozan Spondilit Düşünülen Olgularda HLA-B*27 ve CYP2D6*4 Allellerinin Sıklığı. Ann Health Sci Res. 2016;5(2):1-4.