title: An association study of two functional promotor polymorphisms in the myeloperoxidase (MPO) gene in multiple sclerosis.
abstract: Multiple sclerosis (MS) is a chronic neurological disease affecting the central nervous system (CNS). The disease is characterised by demyelination and axonal loss caused by abnormal immunological responses resulting in accumulating neurological disabilities. MS is considered a complex disease, with both genetic and environmental factors contributing to the pathogenesis. In this study, we have investigated the genetic role of the myeloperoxidase (MPO) gene encoding myeloperoxidase in MS. MPO is an enzyme found in myeloid cells which catalyses the production of hypochlorus acid, a potent microbicidal agent. It also plays an important role in inflammatory processes, where migrating neutrophiles may release active MPO and cause tissue damage. In this study, we investigated two polymorphisms located in the promotor region of the MPO gene, known to influence the expression of MPO, in a large case/control material consisting of 871 Swedish MS patients and 532 Swedish healthy controls. No association was observed with risk of MS.
authors.affiliation: Department of Clinical Neuroscience, Division of Neurology, Karolinska Institutet at Karolinska University Hospital, Stockholm, Sweden. frida.lundmark@ki.se
authors.forename: F
authors.initials: F
authors.lastname: Lundmark
authors.forename: H
authors.initials: H
authors.lastname: Salter
authors.forename: J
authors.initials: J
authors.lastname: Hillert
mesh_terms: D015331:Cohort Studies; D006801:Humans; D009103:Multiple Sclerosis / Q000201:enzymology / Q000235:genetics*; D009195:Peroxidase / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D012016:Reference Values; D013548:Sweden
chemical_list: D009195:Peroxidase