title: Polymorphisms of metal transporter genes DMT1 and ATP7A in Wilson's disease.
abstract: Wilson's disease (WND) is an inherited disorder of copper metabolism. Divalent metal transporter1 (DMT1) and ATP7A play important roles in metal transport in humans. The frequency of two single nucleotide polymorphisms of the DMT1 gene: DMT1 IVS4 C>A, DMT1 11245 T>C and two of the ATP7A gene: rs1062472 T>C, ATP7A rs 2227291 G>C have been evaluated in a population of 108 Wilson's disease patients and 108 sex- and age-matched healthy volunteers. The DMT1 IVS4 C(+) allele occurred more frequently in WND than in the healthy controls. The allele frequencies of other studied polymorphisms in WND group were in line with frequencies obtained for healthy volunteers. Neither of the polymorphisms had an impact on the age at onset or clinical phenotype of WND.
authors.affiliation: Department of Clinical and Experimental Pharmacology, Medical University of Warsaw, Warsaw, Poland; Department of Gastroenterology, Endoterapia, Warsaw, Poland. Electronic address: aprzybylkowski@wum.edu.pl.
authors.forename: Adam
authors.initials: A
authors.lastname: Przybyłkowski
authors.affiliation: Department of Clinical and Experimental Pharmacology, Medical University of Warsaw, Warsaw, Poland; 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Grażyna
authors.initials: G
authors.lastname: Gromadzka
authors.affiliation: 2nd Department of Neurology, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Członkowska
mesh_terms: D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D003300:Copper / Q000378:metabolism; D000073840:Copper-Transporting ATPases; D005260:Female; D005838:Genotype; D006527:Hepatolenticular Degeneration / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D055815:Young Adult
chemical_list: D027682:Cation Transport Proteins; C110547:DMRT1 protein; D014157:Transcription Factors; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases
keywords: ATP7A; DMT1; Polymorphism; Wilson's disease