title: Analysis of common MDR1 (ABCB1)  gene C1236T and C3435T polymorphisms in Turkish patients with familial  Mediterranean fever.
abstract: The  multidrug resistance (MDR1) gene encodes a P-glycoprotein that plays a key role  in drug bioavailability and response to drugs in different human populations.  More than 50 SNPs have been described for the MDR1 gene. Familial Mediterranean  fever (FMF) is considered an autosomal recessive hereditary disease, associated  with a single gene named the Mediterranean fever gene (MEFV). However, about  one-third of FMF patients have only one mutated allele, suggesting that this  disease is expressed as an autosomal dominant trait with partial penetration or  an additional gene might be responsible for the disease. We made genotype and  haplotype analyses of the MDR1 gene in 142 FMF patients and 130 unrelated  Turkish subjects; two MDR-1 genetic markers (C1236T and C3435T) were analyzed  by PCR-RFLP analysis. FMF patients had a significantly higher frequency of the  3435 CT genotype compared with the control group (59.9% in FMF patients versus  44.6% in controls; odds ratio [OR] = 1.85; 95% confidence interval [CI] =  1.14-3.00). Based on haplotype analysis, the T-C shift was significantly more  frequent in controls (14.4% versus 7.1% in FMF patients). This haplotype could  be protective for FMF disease (OR = 0.45; 95%CI = 0.25-0.84). The frequency of  CC-CT (1236-3435) binary genotype was significantly higher in FMF patients  (14.79% versus 4.61% in controls; OR = 3.59; 95%CI = 1.40-9.20).
authors.affiliation: Department of Medical Biology, Faculty of Medicine, Gaziosmanpa ÅŸa University, Tokat, Turkey. arustamov@yahoo.com
authors.forename: A
authors.initials: A
authors.lastname: Rüstemoglu
authors.forename: G
authors.initials: G
authors.lastname: Gumus-Akay
authors.forename: S
authors.initials: S
authors.lastname: Yigit
authors.forename: T
authors.initials: T
authors.lastname: Tasliyurt
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D003710:Demography; D010505:Familial Mediterranean Fever / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D056426:Genetic Loci / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014421:Turkey
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1