title: No association of the Val66Met polymorphism of brain-derived neurotrophic factor (BDNF) to multiple sclerosis.
abstract: Brain-derived neurotrophic factor (BDNF), a neurotrophin produced by neurons and immune cells, promotes neuronal survival and repair during development and after CNS injury. The BDNF-Val66Met polymorphism is functional and induces abnormal intracellular trafficking and decreased BDNF release. Therefore, we investigated the impact of the BDNF-Val66Met polymorphism on the susceptibility and clinical course in a case-control study of 224 multiple sclerosis (MS) Spanish patients and 177 healthy controls. We found no evidence for association to susceptibility or severity of the disease in our population. Moreover, we did not observe, in a subgroup of 12 MS patients, that the methionine substitution at position 66 in the prodomain had negative impact in the capacity to produce BDNF by peripheral blood mononuclear cells (PBMC).
authors.affiliation: Service of Neurology, Hospital Clinic, Universitat de Barcelona, Villarroel 170, 08036 Barcelona, Spain.
authors.forename: Y
authors.initials: Y
authors.lastname: Blanco
authors.forename: M
authors.initials: M
authors.lastname: Gómez-Choco
authors.forename: J L
authors.initials: JL
authors.lastname: Arostegui
authors.forename: B
authors.initials: B
authors.lastname: Casanova
authors.forename: J E
authors.initials: JE
authors.lastname: Martínez-Rodríguez
authors.forename: I
authors.initials: I
authors.lastname: Boscá
authors.forename: E
authors.initials: E
authors.lastname: Munteis
authors.forename: J
authors.initials: J
authors.lastname: Yagüe
authors.forename: F
authors.initials: F
authors.lastname: Graus
authors.forename: A
authors.initials: A
authors.lastname: Saiz
mesh_terms: D000328:Adult; D019208:Brain-Derived Neurotrophic Factor / Q000235:genetics*; D016022:Case-Control Studies; D016001:Confidence Intervals; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D006801:Humans; D008297:Male; D008715:Methionine / Q000235:genetics*; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D014633:Valine / Q000235:genetics*
chemical_list: D019208:Brain-Derived Neurotrophic Factor; D008715:Methionine; D014633:Valine