Polymorphisms of metal transporter genes DMT1 and ATP7A in Wilson's disease |
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| Institution: | 1. Center for Applied Clinical Genomics, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA;2. Center for Pediatric Research, Nemours Biomedical Research, Nemours Alfred I. duPont Hospital for Children, Wilmington, Delaware, USA;3. Department of Pediatrics, Thomas Jefferson University, Philadelphia, Pennsylvania, USA;4. Department of Molecular and Cellular Biochemistry, College of Medicine, The Ohio State University, Columbus, Ohio, USA |
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| 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. |
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| Keywords: | ATP7A DMT1 Polymorphism Wilson's disease |
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