{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Hagemeier J"],"funding":["National Multiple Sclerosis Society","National Science Foundation","Novartis"],"pagination":["530-540"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC5699896"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["17"],"pubmed_abstract":["Brain iron homeostasis is known to be disturbed in multiple sclerosis (MS), yet little is known about the association of common gene variants linked to iron regulation and pathological tissue changes in the brain. In this study, we investigated the association of genetic determinants linked to iron regulation with deep gray matter (GM) magnetic susceptibility in both healthy controls (HC) and MS patients. Four hundred (400) patients with MS and 150 age- and sex-matched HCs were enrolled and obtained 3 T MRI examination. Three (3) single nucleotide polymorphisms (SNPs) associated with iron regulation were genotyped: two SNPs in the human hereditary hemochromatosis protein gene <i>HFE</i>: rs1800562 (C282Y mutation) and rs1799945 (H63D mutation), as well as the rs1049296 SNP in the transferr"],"journal":["NeuroImage. Clinical"],"pubmed_title":["Iron-related gene variants and brain iron in multiple sclerosis and healthy individuals."],"pmcid":["PMC5699896"],"funding_grant_id":["RG4836","1514204"],"pubmed_authors":["Bergsland N","Schweser F","Dwyer MG","Lin F","Zivadinov R","Hagemeier J","Weinstock-Guttman B","Ramanathan M"],"additional_accession":[]},"is_claimable":false,"name":"Iron-related gene variants and brain iron in multiple sclerosis and healthy individuals.","description":"Brain iron homeostasis is known to be disturbed in multiple sclerosis (MS), yet little is known about the association of common gene variants linked to iron regulation and pathological tissue changes in the brain. In this study, we investigated the association of genetic determinants linked to iron regulation with deep gray matter (GM) magnetic susceptibility in both healthy controls (HC) and MS patients. Four hundred (400) patients with MS and 150 age- and sex-matched HCs were enrolled and obtained 3 T MRI examination. Three (3) single nucleotide polymorphisms (SNPs) associated with iron regulation were genotyped: two SNPs in the human hereditary hemochromatosis protein gene <i>HFE</i>: rs1800562 (C282Y mutation) and rs1799945 (H63D mutation), as well as the rs1049296 SNP in the transferr","dates":{"release":"2018-01-01T00:00:00Z","publication":"2018","modification":"2026-04-30T13:30:51.576Z","creation":"2019-03-27T03:02:44Z"},"accession":"S-EPMC5699896","cross_references":{"pubmed":["29201641"],"doi":["10.1016/j.nicl.2017.11.003"]}}