Association analysis of three ABCB1 MDR1 gene variants C1236T G2677A T and C3435T and their genotype haplotype combinations with the familial Mediterranean fever
Yazarlar (6)
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Ankara Üniversitesi, Türkiye
Doç. Dr. Nevin KARAKUŞ
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
Dumlupinar Üniversitesi, Türkiye
Tokat Gaziosmanpaşa Üniversitesi, Türkiye
| Makale Türü | Özgün Makale |
| Makale Alt Türü | SSCI, AHCI, SCI, SCI-Exp dergilerinde yayınlanan tam makale |
| Dergi Adı | Xenobiotica |
| Dergi ISSN | 0049-8254 Wos Dergi Scopus Dergi |
| Dergi Tarandığı Indeksler | SCI |
| Dergi Grubu | Q4 |
| Makale Dili | İngilizce |
| Basım Tarihi | 10-2014 |
| Cilt No | 44 |
| Sayı | 10 |
| Sayfalar | 933 / 940 |
| DOI Numarası | 10.3109/00498254.2014.915071 |
| Özet |
| 1. Familial Mediterranean fever (FMF) is considered an autosomal recessive disorder, associated with a single gene named Mediterranean fever (MEFV). The aim of this study was to perform genotyping and haplotyping analysis of the multidrug resistance (ATP-binding cassette, subfamily B, member 1-ABCB1) gene in FMF patients. 2. Three ABCB1 gene polymorphisms (C1236T, G2677T/A and C3435T) were analyzed in 309 FMF patients and 250 healthy control subjects. All subjects were genotyped by PCR-restriction fragment length polymorphism analysis, and statistical analysis was performed using the Arlequin 3.1.1 and SPSS 16.0 software packages. 3. The CT genotype frequency of the C3435T polymorphism (p=0.003), the CT-GT-CT (C1236T-G2677T/A-C3435T) triple genotype (p=0.001) and the C-G (C1236T-G2677T/A) haplotype (p=0.030) were more common in the FMF patients. The CT-GG-CC triple genotype and T-G-C, C-T-T and T-G-T haplotypes (C1236T-G2677T/A-C3435T) were higher in the control subjects (p=0.011, 0.001, 0.009 and 0.000, respectively). The CT-GG binary genotype and C-T and T-G haplotypes for C1236T-G2677T/A polymorphisms may have a high degree of protective effect against FMF (p=0.0005, 0.002 and 0.000, respectively). 4. Our study showed that genotypes and haplotypes of ABCB1 gene polymorphisms may affect patients' FMF susceptibility. |
| Anahtar Kelimeler |
| ABCB1 | FMF | Haplotype | Polymorphism | Turkey |
BM Sürdürülebilir Kalkınma Amaçları
| Atıf Sayıları | |
| WoS | 4 |
| SCOPUS | 4 |
| Google Scholar | 4 |