کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8688003 | 1580950 | 2018 | 11 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Iron-related gene variants and brain iron in multiple sclerosis and healthy individuals
ترجمه فارسی عنوان
انواع ژن مربوط به آهن و آهن مغز در مولتیپل اسکلروزیس و افراد سالم
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کلمات کلیدی
HFEQSMRRMsFWEMSSSEDSSppbGRET1wTFCEROIGLMFDRTransferrinVBAT1-weighted - T1 وزنIron - آهنthreshold-free cluster enhancement - افزایش خوشه ای آستانه ایVoxel-based analysis - تجزیه و تحلیل مبتنی بر وکسلparts per billion - قطعات در هر میلیاردGray matter - ماده خاکستریGeneral linear model - مدل خطی کلیExpanded Disability Status Scale - مقیاس وضعیت ناتوانی گسترش یافتهregion of interest - منطقه مورد نظرrelapsing-remitting multiple sclerosis - مولتیپل اسکلروزیس مجدد مجددMultiple sclerosis - مولتیپل اسکلروزیس(ام اس)false discovery rate - میزان کشف کاذبFamily-wise error rate - نرخ خطای خانوادگیquantitative susceptibility mapping - نقشه برداری حساس به کمیSingle nucleotide polymorphism - پلیمورفیسم تک نوکلئوتیدیSNP - چندریختی تک-نوکلئوتیدhealthy control - کنترل سالمgradient recalled echo - گرادیان اکو را به یاد می آورد
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
روانپزشکی بیولوژیکی
چکیده انگلیسی
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 HFE: rs1800562 (C282Y mutation) and rs1799945 (H63D mutation), as well as the rs1049296 SNP in the transferrin gene (C2 mutation). The effects of disease and genetic status were studied using quantitative susceptibility mapping (QSM) voxel-based analysis (VBA) and region-of-interest (ROI) analysis of the deep GM. The general linear model framework was used to compare groups. Analyses were corrected for age and sex, and adjusted for false discovery rate. We found moderate increases in susceptibility in the right putamen of participants with the C282Y (+ 6.1 ppb) and H63D (+ 6.9 ppb) gene variants vs. non-carriers, as well as a decrease in thalamic susceptibility of progressive MS patients with the C282Y mutation (left: â 5.3 ppb, right: â 6.7 ppb, p < 0.05). Female MS patients had lower susceptibility in the caudate (â 6.0 ppb) and putamen (left: â 3.9 ppb, right: â 4.6 ppb) than men, but only when they had a wild-type allele (p < 0.05). Iron-gene linked increases in putamen susceptibility (in HC and relapsing remitting MS) and decreases in thalamus susceptibility (in progressive MS), coupled with apparent sex interactions, indicate that brain iron in healthy and disease states may be influenced by genetic factors.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: NeuroImage: Clinical - Volume 17, 2018, Pages 530-540
Journal: NeuroImage: Clinical - Volume 17, 2018, Pages 530-540
نویسندگان
Jesper Hagemeier, Murali Ramanathan, Ferdinand Schweser, Michael G. Dwyer, Fuchun Lin, Niels Bergsland, Bianca Weinstock-Guttman, Robert Zivadinov,