Abstract:
:Immune-mediated pathology has been thought to be an important factor contributing to Duchenne muscular dystrophy (DMD). Allele frequencies of certain HLA types are known to differ between patients with dystrophinopathies and healthy controls with low-resolution HLA gene typing data in limit reports. Using Polymerase chain reactionsequence based typing (PCR-SBT) to genotype 64 children with DMD in HLA-A, -B,-C, -DRB1, and -DQB1 locus and 503 healthy controls in HLA-A, -B, -DRB1 locus, this study aimed to investigate associations of specific HLA alleles with, and their possible roles in the development and clinical phenotypic severity of DMD. The χ2 test was used to evaluate the distribution of allele frequencies in HLA-A, -B, -DRB1 locus between the patients and healthy controls. A significantly higher frequency of HLA-B*07:05 was found in children with DMD compared to that in controls (OR = 16.2, 95%CI = 2.9-89.3, P < 0.046). More importantly, significantly higher frequencies of HLA-A*29:01 (OR = 77.308, 95%CI = 6.794-879.731, P < 0.0160) and HLA-B*07:05 (OR = 60.240, 95%CI = 9.637-376.535, P < 2.41*10-3) was found in patients with de novo mutations (n = 14) compared to controls while no difference of HLA alleles frequency ware indicated between patients with inherited mutation and control. The result indicates that HLA alleles is associated with pathogenesis of DMD especially DMD with de novo mutation. We use Vignos scale to estimate the lower limb motor function of patients. The impact of HLA alleles on score of Vignos scale of DMD children was estimated by multiple linear regression. Our study indicates that HLA-A*02:01 may have a dampening effect on the clinical phenotypic severity of DMD, evidenced by the presence of HLA-A*02:01 being associated with lower Vignos score. Our study demonstrates that certain HLA alleles are indeed associated with the pathogenesis and clinical phenotypic severity of DMD.
journal_name
Front Neuroljournal_title
Frontiers in neurologyauthors
Li H,Xiao L,Wang L,Lin J,Luo M,Chen M,He R,Zhu Y,Zhang Cdoi
10.3389/fneur.2018.00970subject
Has Abstractpub_date
2018-11-15 00:00:00pages
970issn
1664-2295journal_volume
9pub_type
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pub_type: 杂志文章
doi:10.3389/fneur.2015.00118
更新日期:2015-05-26 00:00:00
abstract::GLUT1 Deficiency Syndrome (GLUT1-DS) is a rare and potentially treatable neurometabolic condition, caused by a reduced glucose transport into the brain and clinically characterized by an epileptic encephalopathy with movement disorders. A wide inter-intrafamilial phenotypic variability has been reported. Very-long-cha...
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pub_type: 杂志文章
doi:10.3389/fneur.2020.00514
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pub_type: 杂志文章
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pub_type: 杂志文章
doi:10.3389/fneur.2019.01192
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doi:10.3389/fneur.2019.00823
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pub_type: 杂志文章
doi:10.3389/fneur.2020.00726
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pub_type: 杂志文章
doi:10.3389/fneur.2018.00611
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2012.00105
更新日期:2012-06-28 00:00:00
abstract::Background: Mild traumatic brain injuries (mTBIs) are a significant social, sport, and military health issue. In spite of advances in the clinical management of these injuries, the underlying pathophysiology is not well-understood. There is a critical need to advance objective biomarkers, allowing the identification a...
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pub_type: 杂志文章
doi:10.3389/fneur.2018.00468
更新日期:2018-06-20 00:00:00
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journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2018.00942
更新日期:2018-11-08 00:00:00
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pub_type: 杂志文章
doi:10.3389/fneur.2017.00478
更新日期:2017-09-12 00:00:00
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pub_type: 杂志文章
doi:10.3389/fneur.2018.00036
更新日期:2018-02-19 00:00:00
abstract::Huntington's Disease (HD) is a genetic neurodegenerative disease caused by a CAG expansion in the gene encoding Huntingtin (Htt). It is characterized by chorea, cognitive, and psychiatric disorders. The most affected brain region is the striatum, and the clinical symptoms are directly correlated to the rate of striata...
journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2013.00127
更新日期:2013-10-23 00:00:00
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journal_title:Frontiers in neurology
pub_type:
doi:10.3389/fneur.2019.00175
更新日期:2019-03-05 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2013.00164
更新日期:2013-10-21 00:00:00
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pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00860
更新日期:2018-10-15 00:00:00
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pub_type:
doi:10.3389/fneur.2017.00168
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pub_type: 杂志文章
doi:10.3389/fneur.2020.552295
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pub_type: 杂志文章
doi:10.3389/fneur.2017.00032
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00948
更新日期:2018-11-13 00:00:00
abstract::Purpose: Stroke-associated pneumonia (SAP), a common complication in acute ischemic stroke (AIS) patients, is associated with poor prognosis after AIS. Inflammation plays an important role in the development of SAP. In this study, we aimed to explore the association between the monocyte-to-lymphocyte ratio (MLR) and S...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.575809
更新日期:2020-10-06 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2017.00134
更新日期:2017-04-24 00:00:00
abstract::Background: Subthalamic nucleus deep brain stimulation (STN-DBS) has been an established method in improvement of motor disabilities in Parkinson's disease (PD) patients. It has been also claimed to have an impact on balance and gait disorders in PD patients, but the previous results are conflicting. Objective: The ai...
journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2018.00906
更新日期:2018-10-31 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2013.00170
更新日期:2013-11-01 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章,评审
doi:10.3389/fneur.2018.00043
更新日期:2018-02-12 00:00:00
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pub_type: 杂志文章
doi:10.3389/fneur.2018.01037
更新日期:2018-12-14 00:00:00
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journal_title:Frontiers in neurology
pub_type: 杂志文章
doi:10.3389/fneur.2020.563624
更新日期:2020-10-27 00:00:00