title: Association between ABCB1 (MDR1) gene 3435 C>T polymorphism and colchicine unresponsiveness of FMF patients.
abstract: The multidrug resistance gene-1 (MDR1, adenosine triphosphate-binding cassette transporter: ABCB1, P-glycoprotein) encodes membrane proteins that play a crucial role in protecting cells from xenobiotics, chemicals, and drugs. The TT genotype of 3435 codon in exon 26 of MDR1 gene causes overexpression of gene activity and effluxes many chemically diverse compounds across the plasma membrane. We studied the association between C3435T polymorphisms (single nucleotide polymorphism) of MDR1 gene and colchicine-resistant familial Mediterranean fever (FMF) patients. Total genomic DNA samples from 52 FMF patients of colchicine unresponsiveness were used for FMF (MEFV) and MDR1 genes profile analyses. Target genes were genotyped by multiplex PCR-based reverse-hybridization Strip Assay method. The preliminary current results showed increased T allele frequency (0.596) in colchicine unresponsiveness of FMF patients. The distributions of the CC, CT, and TT genotypes in colchicine nonresponder FMF patients were 17%, 46%, and 37%, respectively. Our results indicate that C3435T polymorphism in exon 26 of MDR1 gene is associated with colchicine resistance in nonresponder FMF patients during the common therapy protocol.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Cumhuriyet University, Sivas, Turkey.
authors.forename: Filiz
authors.initials: F
authors.lastname: Ozen
authors.forename: Coskun
authors.initials: C
authors.lastname: Silan
authors.forename: Ahmet
authors.initials: A
authors.lastname: Uludag
authors.forename: Ferhan
authors.initials: F
authors.lastname: Candan
authors.forename: Fatma
authors.initials: F
authors.lastname: Silan
authors.forename: Semra
authors.initials: S
authors.lastname: Ozdemir
authors.forename: Sinem
authors.initials: S
authors.lastname: Atik
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*; D000293:Adolescent; D000328:Adult; D002648:Child; D015331:Cohort Studies; D003078:Colchicine / Q000627:therapeutic use*; D004252:DNA Mutational Analysis; D004305:Dose-Response Relationship, Drug; D004334:Drug Administration Schedule; D004351:Drug Resistance / Q000235:genetics*; D010505:Familial Mediterranean Fever / Q000175:diagnosis / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation; D005787:Gene Frequency; D006801:Humans; D008297:Male; D010597:Pharmacogenetics; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index; D017211:Treatment Failure; D055815:Young Adult
chemical_list: C513055:ABCB1 protein, human; D018435:ATP Binding Cassette Transporter, Subfamily B; D020168:ATP Binding Cassette Transporter, Subfamily B, Member 1; D003078:Colchicine