title: Relationship between response to colchicine treatment and MDR1 polymorphism in familial Mediterranean fever patients.
abstract: OBJECTIVE
  Investigate the relationship between MDR1 C3435T polymorphism and colchicine response in Familial Mediterranean fever (FMF) patients.
  
  
  METHODS
  Patients (n=50) who received colchicine regularly, were willing to participate in the study, and attended control visits were included in the study. MDR1 C3435T genotype was defined by the real-time polymerase chain reaction method. Patients were divided into three groups. Patients, who recovered from episodes with standard colchicine treatment, and had no attack in the last 1 year were accepted as complete; patients whose episode number and intensity were decreased with the ongoing standard treatment as partial; and patients whose episodes were not decreased despite the standard treatment as nonresponders.
  
  
  RESULTS
  MDR1 C and T allele frequencies of FMF patients with colchicine responses of complete, partial, and nonresponders were C=0.75 and T=0.25; C=0.56 and T=0.44; and C=0.50 and T=0.50, respectively. When complete responding patients were compared with the partial responding patients, subjects with CT genotype had 6.18 times more increased risk than with CC genotype (OR=6.18; p=0.015). Poor response risk of subjects with the T allele was increased 2.45 times more when compared with the C allele (p=0.03).
  
  
  CONCLUSIONS
  MDR1 gene C3435T polymorphism enacts an important role on colchicine response in FMF; good response to colchicine treatment was related to the C allele, whereas poor response was related to the T allele in FMF.
authors.affiliation: 1 Department of Medical Genetics, Canakkale Onsekiz Mart University School of Medicine , Canakkale, Turkey .
authors.forename: Ahmet
authors.initials: A
authors.lastname: Uludag
authors.forename: Coskun
authors.initials: C
authors.lastname: Silan
authors.forename: Sinem
authors.initials: S
authors.lastname: Atik
authors.forename: Cisem
authors.initials: C
authors.lastname: Akurut
authors.forename: Aysegul
authors.initials: A
authors.lastname: Uludag
authors.forename: Fatma
authors.initials: F
authors.lastname: Silan
authors.forename: Ozturk
authors.initials: O
authors.lastname: Ozdemir
mesh_terms: D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1 / Q000235:genetics*; D000483:Alleles; D019943:Amino Acid Substitution; D003078:Colchicine / Q000627:therapeutic use*; D003598:Cytoskeletal Proteins / Q000235:genetics; D004252:DNA Mutational Analysis; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011379:Prognosis; D000071198:Pyrin; D016896:Treatment Outcome
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D003598:Cytoskeletal Proteins; C000604192:MEFV protein, human; D000071198:Pyrin; D003078:Colchicine