当前位置： SCI文献检索 > JOURNAL OF THE NEUROLOGICAL SCIENCES期刊下所有文献 > Epistasis between HLA-DRB1 parental alleles in a Spanish cohort with multiple sclerosis.

Epistasis between HLA-DRB1 parental alleles in a Spanish cohort with multiple sclerosis.

Abstract：

BACKGROUND AND OBJECTIVE:Multiple sclerosis (MS) has been consistently associated with the HLA-DR2 haplotype and particularly with the HLA-DRB1*15 allele. Epistatic interactions between both parental alleles in the DRB1 loci have been shown to modify the MS susceptibility risk. This study investigated the frequencies of various HLA-DRB1 genotypes, their impact on MS susceptibility and their correlation with the clinical severity in a Spanish population. METHODS:A genotype was considered as the combination of the two parental DRB1 alleles. We compared the frequencies of the genotypes in a sporadic MS population (n=380) with those of an unrelated healthy control cohort (n=1088). We correlated the different genotypes with the age at onset, gender distribution, symptoms at onset, course of the disease and progression severity by means of the time to reach the progressive phase and EDSS scores of 3 and 6. RESULTS:We found 81 different genotypes. There were four different MS-predisposing genotypes. Three of them contained the DRB1*15 allele (DRB1*03/15, DRB1*04/15, and DRB1*08/15) and the fourth was homozygote for the DRB1*03 allele. The highest odds ratio was found with the genotype DRB1*08/15 (OR=3.88, 95% CI=1.83-8.26, p<0.01), followed by DRB1*03/03 (OR=3.15, 95% CI=1.93-5.14, p<0.01), DRB1*03/15 (OR=2.72, 95% CI=1.88-3.94, p<0.01) and DRB1*04/15 (OR=2.54, 95% CI=1.64-3.98, p<0.01). The DRB1*01/04 and the DRB1*15/15 genotypes were associated with a shorter time to reach an EDSS score of 6. CONCLUSIONS:Our results show the importance of epistatic interactions among the HLA-DRB1 alleles, modifying the risk for MS as well as its clinical severity.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Romero-Pinel L,Pujal JM,Martínez-Yélamos S,Gubieras L,Matas E,Bau L,Torrabadella M,Azqueta C,Arbizu T

doi

10.1016/j.jns.2010.07.026

subject

Has Abstract

pub_date

2010-11-15 00:00:00

pages

96-100

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

S0022-510X(10)00349-7

journal_volume

298

pub_type

杂志文章

相关文献

JOURNAL OF THE NEUROLOGICAL SCIENCES文献大全
  • Combination of myotonic dystrophy and hereditary motor and sensory neuropathy.

    abstract：:Myotonic Dystrophy Type 1 (DM1) in combination with demyelinating neuropathy is very rare in literature. In this study, DM1 and demyelinating neuropathy were demonstrated clinically and electromyographically in a 43-year-old female patient from Turkey. In the patient an expanded CTG repeat in the Myotonic Dystrophy Pr...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2009.09.028

    authors： Kurt S,Karaer H,Kaplan Y,Akat I,Battaloglu E,Eruslu D,Basak AN

    更新日期：2010-01-15 00:00:00

  • The epidemiology of multiple sclerosis in Queensland, Australia.

    abstract：:An epidemiological survey of multiple sclerosis (MS) in the State of Queensland was undertaken with its prevalence day being the national census day on June 30th, 1981, 20 years after a regional survey within the State. The relationship between increasing prevalence of MS and increasing south latitude within the State...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(87)90154-7

    authors： Hammond SR,de Wytt C,Maxwell IC,Landy PJ,English D,McLeod JG,McCall MG

    更新日期：1987-09-01 00:00:00

  • Occurrence of nervous system involvement in SIRS.

    abstract：:Systemic inflammatory response syndrome (SIRS) is a medical condition in which the all-organ microcirculation is affected including nervous system. We describe neurological findings in 64 patients with SIRS at Hospital das Clínicas of Sao Paulo University School of Medicine; 45.3% were male and 54.7% female; their age...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2006.08.015

    authors： Marchiori PE,Lino AM,Hirata MT,Carvalho NB,Brotto MW,Scaff M

    更新日期：2006-12-01 00:00:00

  • Effects of electrical stimulation in vestibular cortex areas in humans.

    abstract：:The case of a patient with focal epilepsy is reported who underwent presurgical evaluation by stereotactic intracranial electroencephalographic (EEG) recording. A subdural semi-grid electrode, consisting of three multi-channel strip electrodes, was implanted over the temporal lobe and temporo-occipital region; one mul...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2009.12.003

    authors： Best C,Stefan H,Hopfengaertner R,Dieterich M

    更新日期：2010-03-15 00:00:00

  • Overexpression of glucose-regulated protein 94 after spinal cord injury in rats.

    abstract：:Glucose-regulated protein (GRP) 94 is a member of the stress protein family, which is localized in the endoplasmic reticulum (ER). Spinal cord injury (SCI) induced ER stress that results in apoptosis. However, the role of GRP94 in injury of the central nervous system remains unknown. In this study, we performed SCI in...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2011.06.024

    authors： Xu D,Cui S,Sun Y,Bao G,Li W,Liu W,Zhu X,Fan J,Wang Y,Cui Z

    更新日期：2011-10-15 00:00:00

  • Preventive and therapeutic effects of the selective Rho-kinase inhibitor fasudil on experimental autoimmune neuritis.

    abstract：:We studied the effects of fasudil, a selective Rho-kinase inhibitor, on experimental autoimmune neuritis (EAN). Continuous parenteral administration of fasudil prevented the development of EAN induced by P0 peptide 180-199 in Lewis rats while it also reduced EAN severity when administered after disease onset. Immunohi...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2011.03.031

    authors： Pineda AA,Minohara M,Kawamura N,Matsushita T,Yamasaki R,Sun X,Piao H,Shimokawa H,Kira J

    更新日期：2011-07-15 00:00:00

  • Treatment options: the latest evidence with galantamine (Reminyl).

    abstract：:Vascular dementia (VaD) has a great deal of overlap (in terms of features and symptoms) with Alzheimer's disease (AD). Mixed dementia, or AD with concomitant cerebrovascular disease (AD with CVD), is increasingly being recognized as a distinct clinical condition that occurs with substantial frequency. The robust evide...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/s0022-510x(02)00267-8

    authors： Erkinjuntti T

    更新日期：2002-11-15 00:00:00

  • Arteriolosclerotic leucoencephalopathy in the elderly and its relation to white matter lesions in Binswanger's disease, multi-infarct encephalopathy and Alzheimer's disease.

    abstract：:Arteriolosclerotic leucoencephalopathy in the elderly (ALE) is characterized by white matter lesions associated with atherosclerosis and arteriolosclerosis. Mild lesions are focal and probably represent early status cribosus or incomplete lacunar infarcts. Moderate and severe lesions are diffuse areas of demyelination...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(90)90180-u

    authors： Ferrer I,Bella R,Serrano MT,Martí E,Guionnet N

    更新日期：1990-08-01 00:00:00

  • Acute ischemic stroke diagnosis using brain tissue pulsations.

    abstract：:Healthy brain tissue pulsates with the cardiac cycle, but whether brain tissue pulsations (BTPs) are impaired by tissue ischemia due to ischemic stroke is currently unclear. This study is the first to explore the clinical potential of measuring BTPs using ultrasound in acute ischemic stroke patients. BTPs were measure...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2020.117164

    authors： Ince J,Banahan C,Venturini S,Alharbi M,Turner P,Oura M,Beach KW,Robinson TG,Mistri AK,Lecchini-Visintini A,Minhas JS,Chung EML

    更新日期：2020-12-15 00:00:00

  • Human cerebrospinal fluid somatostatin in neurologic disease.

    abstract：:Concentrations of somatostatin-like immunoreactivity (SLI) were examined in human cerebrospinal fluid (CSF). To validate the assay it was shown that CSF which had been run over a somatostatin immunoaffinity column showed no interference with binding of synthetic standards. Reversed phase HPLC showed that the immunorea...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(85)90039-5

    authors： Beal MF,Mazurek MF,Black PM,Martin JB

    更新日期：1985-11-01 00:00:00

  • Depression in Tourette syndrome: A controlled and comparison study.

    abstract：BACKGROUND:Tourette syndrome (TS) is a neurodevelopmental condition characterised by multiple tics and co-morbid behavioural problems. Previous research found that up to 76% of patients with TS experience affective symptoms, with 13% fulfilling diagnostic criteria for depression. OBJECTIVES:We aimed to assess the seve...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,多中心研究

    doi：10.1016/j.jns.2016.03.030

    authors： Piedad JC,Cavanna AE

    更新日期：2016-05-15 00:00:00

  • Affinity immunoblotting: rapid and sensitive detection of oligoclonal IgG, IgA and IgM in unconcentrated CSF by agarose isoelectric focusing.

    abstract：:Two methods for the investigation of oligoclonal immunoglobulin bands in cerebrospinal fluid are compared. Isoelectric focusing (IEF) in agarose gels combined with a highly sensitive affinity immunoblotting proved to be superior to PAGE-IEF and silver staining regarding detection sensitivity and expenditure of labour....

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(91)90167-6

    authors： Kaiser R

    更新日期：1991-06-01 00:00:00

  • Epstein-Barr virus and multiple sclerosis.

    abstract：:Epstein-Barr virus (EBV) is a human DNA herpesvirus infecting more than 90% of the world's population. EBV is the etiological agent of infectious mononucleosis (Pfeiffer's disease). Furthermore, diverse malignancies such as Burkitt and Hodgkin lymphoma have been associated with EBV. More recently, a possible role for ...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章,评审

    doi：10.1016/j.jns.2009.03.028

    authors： Pohl D

    更新日期：2009-11-15 00:00:00

  • Rapamycin regulates cholesterol biosynthesis and cytoplasmic ribosomal proteins in hippocampus and temporal lobe of APP/PS1 mouse.

    abstract：:As an inhibitor of the immune system and a longevity drug, rapamycin has been suggested as a treatment for Alzheimer's disease, although the underlying mechanisms remain to be clarified. To elucidate the mechanisms, we performed a high-throughput quantitative proteomics analysis and bioinformatics analysis of the chan...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2019.02.022

    authors： Wang X,Xia W,Li K,Zhang Y,Ge W,Ma C

    更新日期：2019-04-15 00:00:00

  • A fatal congenital myopathy with severe type I fibre atrophy, central nuclei and multicores.

    abstract：:An unusual fatal congenital myopathy in a Chinese female infant is described. Muscle biopsy showed type I fibre smallness with central nuclei and focal decrease in oxidative enzyme activities affecting mainly larger type II fibres. Longitudinal sections from glutaldehyde-fixed araldite-embedded material stained with t...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(81)90173-8

    authors： Lee YS,Yip WC

    更新日期：1981-05-01 00:00:00

  • IgG ratios and oligoclonal IgG in multiple sclerosis and other neurological disorders.

    abstract：:The findings are reported of various CSF abnormalities, including IgG indices and oligoclonal IgG, in 160 patients with multiple sclerosis of differing diagnostic certainty and 146 patients with other neurological disorders. An abnormal IgG index, defined as the ratio of IgG/albumin in CSF to that in serum, has been f...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(83)90143-0

    authors： Perkin GD,Sethi K,Muller BR

    更新日期：1983-08-01 00:00:00

  • Sensory symptoms in cranial dystonia: a potential role in the etiology?

    abstract：:Cranial dystonia is normally considered as a pure movement disorder. Sensory symptoms have not received much attention, but we found ill-defined pain, discomfort, distortion of sensory modalities, 'phantom' kinetic or postural sensations in the orofacial areas subsequently involved by the dyskinesia in all of 11 conse...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(93)90318-s

    authors： Ghika J,Regli F,Growdon JH

    更新日期：1993-06-01 00:00:00

  • Altered resting state functional network connectivity in children absence epilepsy.

    abstract：:Altered functional connectivity has been associated with the influence of epileptic activity. Abnormalities in connectivity, particularly in dorsal attention (DAN), salience (SN) and default mode (DMN) networks, might contribute to the loss of consciousness during seizures and cognitive deficits in patients with child...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2015.04.054

    authors： Li Q,Cao W,Liao X,Chen Z,Yang T,Gong Q,Zhou D,Luo C,Yao D

    更新日期：2015-07-15 00:00:00

  • Effects of anodal transcranial direct current stimulation (tDCS) on behavioral and spatial memory during the early stage of traumatic brain injury in the rats.

    abstract：:Transcranial direct current stimulation (tDCS) is a noninvasive technique to modulate the neural membrane potential. Its effects in the early stage of traumatic brain injury (TBI) have rarely been investigated. This study assessed the effects of anodal tDCS on behavioral and spatial memory in a rat model of traumatic ...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2016.02.005

    authors： Yoon KJ,Lee YT,Chae SW,Park CR,Kim DY

    更新日期：2016-03-15 00:00:00

  • Effects of CDP-choline on the recovery of patients with head injury.

    abstract：:A single blind randomized study has been conducted in 216 patients with severe or moderate head injury, with the aim of comparing the evolution of those that received only conventional treatment with the evolution of those treated with CDP-choline. Our results indicate that CDP-choline improves the global outcome of p...

    journal_title：Journal of the neurological sciences

    pub_type： 临床试验,杂志文章,随机对照试验

    doi：10.1016/0022-510x(91)90003-p

    authors： Calatayud Maldonado V,Calatayud Pérez JB,Aso Escario J

    更新日期：1991-07-01 00:00:00

  • Accelerometer cut-points derived during over-ground walking in persons with mild, moderate, and severe multiple sclerosis.

    abstract：BACKGROUND:There has been increased interest in objectively quantifying time spent in moderate-to-vigorous physical activity (MVPA) using accelerometry as an outcome among persons with multiple sclerosis (MS). This requires development of a cut-point for interpreting the rate of accelerometer output based on its associ...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2014.02.024

    authors： Sandroff BM,Riskin BJ,Agiovlasitis S,Motl RW

    更新日期：2014-05-15 00:00:00

  • Risk factors for mental disorders in patients with hypertensive intracerebral hemorrhage following neurosurgical treatment.

    abstract：BACKGROUND:Mental disorders are commonly observed among surgically treated patients with hypertensive intracerebral hemorrhage (HICH), leading to serious negative impacts on the patient's treatment, rehabilitation, and prognosis. The study aimed to establish the prevalence rates and risk factors for mental disorders fo...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2014.04.021

    authors： Li F,Chen QX

    更新日期：2014-06-15 00:00:00

  • Systemic thrombolytic therapy in acute ischemic stroke--new experiences in spreading network of stroke units in Croatia.

    abstract：BACKGROUND:The aims of this paper are: 1) to present the data of systemic thrombolysis for ischemic stroke in five Croatian centers from July 2008 till January 2010; 2) to compare the results between centers and; 3) to compare data with previously published results from 2006 to 2008 period from our center, and with the...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2011.10.008

    authors： Matijević V,Poljaković Z,Malojčić B,Mišmaš A,Bazina A,Boban M,Bilić I,Radanović B,Glavor KD,Kiđemet-Piskač S,Habek M

    更新日期：2012-03-15 00:00:00

  • Semi-quantitative data on ethanol consumption in 354 ET cases and 370 controls.

    abstract：:The notion that there is an association between essential tremor (ET) and higher ethanol consumption has crept into the literature; however, the data are limited and conflicted. A total of 354 ET cases and 370 matched controls were enrolled in a clinical-epidemiological study. Average current daily ethanol consumption...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2014.09.042

    authors： Louis ED,Michalec M

    更新日期：2014-12-15 00:00:00

  • Fingerprint inclusions. Ultrastructural demonstration of muscle fiber type specificity.

    abstract：:Fingerprint inclusions were identified in the skeletal muscle of a child with severe hypotonia. The mean Z-line and M-line widths from each of 19 muscle fibers containing the fingerprint inclusions were calculated. The mean Z-line widths were 85-99 nm, and the mean M-line widths were 75-101 nm. According to out presen...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(77)90216-7

    authors： Payne CM,Curless RG

    更新日期：1977-04-01 00:00:00

  • Risk factors for vascular dementia in elderly psychiatric outpatients with preserved cognitive functions.

    abstract：:The aim of the study was to assess risk factors for vascular dementia (VaD) in elderly psychiatric outpatients without dementia, and to determine to what extent clinical interventions targeted such risk factors. Out of 250 clinical charts, 78 were selected of patients over 60 years old, who showed no signs of dementia...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2007.01.035

    authors： Stella F,Banzato CE,Gasparetto Sé EV,Scudeler JL,Pacheco JL,Kajita RT

    更新日期：2007-06-15 00:00:00

  • Brainstem gliomas--retrospective analysis of 86 patients.

    abstract：:Brainstem gliomas constitute 10% of brain tumors in children and less than 2% in adults. Since therapeutic options are limited and brainstem gliomas are associated with a high morbidity and mortality, we sought to analyze the prognostic factors associated with a better outcome. We reviewed the records of 86 patients w...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2009.03.009

    authors： Ueoka DI,Nogueira J,Campos JC,Maranhão Filho P,Ferman S,Lima MA

    更新日期：2009-06-15 00:00:00

  • The numbers of limb motor neurons in the human lumbosacral cord throughout life.

    abstract：:Forty-seven spinal cords from subjects between 13 and 95 years of age have been examined; in the majority death occurred suddenly or rapidly from a state of previous good health. The limb motor neurons in the lumbospinal segments have been estimated by counting nucleoli in characeteristic cells in every fifth group of...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/0022-510x(77)90069-7

    authors： Tomlinson BE,Irving D

    更新日期：1977-11-01 00:00:00

  • Deep gray matter T2 hypointensity correlates with disability in a murine model of MS.

    abstract：:Advanced MRI studies demonstrated several diffuse non-lesional features in multiple sclerosis, including changes detectable in gray matter areas. Standard T2 weighted MRI scans of deep gray matter structures, including the thalamus, caudate, putamen, dentate nuclei often demonstrate hypointensity. T2 hypointensity has...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2008.12.013

    authors： Pirko I,Johnson AJ,Lohrey AK,Chen Y,Ying J

    更新日期：2009-07-15 00:00:00

  • Reduced cerebrospinal fluid concentrations of oxysterols in response to natalizumab treatment of relapsing remitting multiple sclerosis.

    abstract：BACKGROUND:Natalizumab therapy reduces inflammation and degeneration of the CNS in relapsing-remitting multiple sclerosis (RRMS). In cerebrospinal fluid (CSF) the concentration of 24S-hydroxycholesterol (24OHC) reflect neurodegeneration, whereas 27-hydroxycholesterol (27OHC) is dependent on the integrity of the blood-b...

    journal_title：Journal of the neurological sciences

    pub_type： 杂志文章

    doi：10.1016/j.jns.2015.08.1537

    authors： Novakova L,Axelsson M,Malmeström C,Zetterberg H,Björkhem I,Karrenbauer VD,Lycke J

    更新日期：2015-11-15 00:00:00