MDR1 gene polymorphisms may be associated with Behçet s disease and its colchicum treatment response     
Yazarlar (10)
Aydın Rüstemoğlu
Türkiye
Ülker Gül
Türkiye
Güvem Gümüş Akay
Türkiye
Müzeyyen Gönül
Türkiye
Serbülent Yiğit
Türkiye
Dr. Öğr. Üyesi Nihan BOZKURT Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Aynur Karadağ Gürel
Türkiye
Emine Pişkin
Asuman Sunguroğlu
Türkiye
Ahmet Kadıkıran
Türkiye
Makale Türü Özgün Makale
Makale Alt Türü SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale
Dergi Adı GENE
Dergi ISSN 0378-1119 Wos Dergi Scopus Dergi
Dergi Tarandığı Indeksler SCI-Expanded
Dergi Grubu Q4
Makale Dili İngilizce
Basım Tarihi 09-2012
Cilt No 505
Sayı 2
Sayfalar 333 / 339
DOI Numarası 10.1016/j.gene.2012.05.040.
Özet
Behçet's disease (BD) is a chronic multisystem disorder. Infectious agents, immune system mechanisms, and genetic factors are implicated in the etiopathogenesis of BD, which remains to be explained. The human MDR1 (ABCB1) gene encoder P-glycoprotein (P-gp) plays a key role in drug disposition, serves as a protective mechanism against xenobiotics, and provides additional protection for the brain, testis, and fetus. We investigated the genotype and haplotype distributions of three MDR1 gene polymorphisms (C1236T, G2677T/A, and C3435T) in 104 BD patients and 130 control subjects. The genotyping analysis was performed by using PCR-RFLP methods. No statistically significant differences were found for the genotypic and allelic distributions of three individual single nucleotide polymorphisms (SNPs) in the MDR1 gene between BD patients and control subjects in this study (p>0.05). However, combined genotype and haplotype frequencies have found statistically significant differences between BD and control subjects for some combinations (p<0.05). The CC-GG binary genotype for C1236T-G2677T/A loci couple in particular may have a high degree of predisposition to BD (p=0.009; OR, 3.03; 95% CI, 1.41-6.54). Furthermore, significant differences between colchicine-responsive and -nonresponsive groups were found. Genotypic and allelic distributions of C3435T and G2677T/A loci, as well as their genotype and haplotype combinations, were found to have statistically significant differences (p<0.05). The TT genotype for the C3435T locus (p=0.001; OR, 6.59; 95% CI, 1.86-23.30) and T allele (p=0.009; OR, 2.09; 95% CI, 1.18-3.70) plays a substantial role in the colchicine response. Our study showed that MDR1 genes and their polymorphisms may affect a patient's BD susceptibility and colchicine response.
Anahtar Kelimeler
Behcet's disease | ABCB1 | SNP | Polymorphism | Turkey