دورية أكاديمية
أعرض في EDS

Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population.

التفاصيل البيبلوغرافية
العنوان: Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population.
المؤلفون: Chen X; Department of Neurology and State Key Laboratory of Biotherapy and Cancer Center, West China Hospital, SiChuan University, Chengdu, Sichuan, 610041, China., Huang R, Chen Y, Zheng Z, Chen K, Song W, Zhao B, Yang Y, Yuan L, Shang H
المصدر: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2014 Jul; Vol. 35 (7), pp. 1089-95. Date of Electronic Publication: 2014 Feb 04.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Milano, Italy : Springer-Verlag Italia, c2000-
مواضيع طبية MeSH: Genetic Predisposition to Disease*, Amyotrophic Lateral Sclerosis/*genetics , Epithelial Sodium Channels/*genetics , Guanine Nucleotide Exchange Factors/*genetics , Nerve Tissue Proteins/*genetics , Polymorphism, Single Nucleotide/*genetics , Superoxide Dismutase/*genetics, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Amyotrophic Lateral Sclerosis/ethnology ; Asian People/genetics ; C9orf72 Protein ; Female ; Gene Frequency ; Genetic Association Studies ; Genotype ; Humans ; Male ; Middle Aged ; Proteins/genetics ; Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization ; Superoxide Dismutase-1 ; T-Lymphoma Invasion and Metastasis-inducing Protein 1 ; Young Adult
مستخلص: Recently, four single nucleotide polymorphisms (SNPs), including rs2814707 in the 9p21, rs12608932 in the UNC13A gene, rs13048019 in the TIMA1 gene, and rs2228576 in the SCNN1A gene have been reported to be associated with the risk for developing amyotrophic lateral sclerosis (ALS) in Caucasian population. However, this association is not consistent among different studies and yet to be tested in ALS patients in Mainland China. This study included 397 sporadic ALS (SALS) patients and 287 unrelated Chinese healthy controls from Southwest China. Four SNPs listed above were genotyped by using Sequenom's iPLEX assay. No significant differences in the genotype distributions or minor allele frequencies in all SNPs were found between ALS group and control group, between the spinal-onset group and bulbar-onset group, and between the early-onset group and the late-onset group. Our results suggest that these SNPs are unlikely to be common cause of SALS in Chinese population.
References: Nat Genet. 1999 Dec;23(4):397-404. (PMID: 10581024)
J Clin Invest. 2008 Feb;118(2):659-70. (PMID: 18219391)
Lancet Neurol. 2012 Jan;11(1):54-65. (PMID: 22154785)
Lancet Neurol. 2010 Oct;9(10):986-94. (PMID: 20801717)
Neurology. 2008 Feb 12;70(7):533-7. (PMID: 18268245)
J Neurosci. 2008 Feb 20;28(8):1949-60. (PMID: 18287511)
J Hypertens. 2010 Oct;28(10):2076-83. (PMID: 20577119)
Nat Rev Neurosci. 2006 Sep;7(9):710-23. (PMID: 16924260)
Nature. 1993 Jul 22;364(6435):362. (PMID: 8332197)
Biochim Biophys Acta. 2006 Nov-Dec;1762(11-12):973-85. (PMID: 16973338)
Am J Hum Genet. 2006 Jun;78(6):1090-2; author reply 1092-4. (PMID: 16685663)
Nat Genet. 2009 Oct;41(10):1083-7. (PMID: 19734901)
Nat Genet. 2013 Jun;45(6):697-700. (PMID: 23624525)
Neurobiol Aging. 2013 Jun;34(6):1710.e5-6. (PMID: 23261768)
BMC Bioinformatics. 2008 May 30;9:254. (PMID: 18513389)
Neurobiol Aging. 2011 Apr;32(4):757.e13-4. (PMID: 21295378)
Lancet Neurol. 2010 Oct;9(10):978-85. (PMID: 20801718)
Alzheimers Res Ther. 2012 Jul 19;4(4):27. (PMID: 22808918)
Neurobiol Aging. 2012 Jan;33(1):209.e3-8. (PMID: 21925771)
Lancet Neurol. 2013 Mar;12(3):310-22. (PMID: 23415570)
N Engl J Med. 2001 May 31;344(22):1688-700. (PMID: 11386269)
Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Dec;1(5):293-9. (PMID: 11464847)
Eur J Neurol. 2010 Jun 1;17(6):846-51. (PMID: 20113340)
Clin Neurophysiol. 2008 Mar;119(3):495-496. (PMID: 18164236)
Neurology. 2008 Jan 8;70(2):144-52. (PMID: 18180444)
Neurobiol Aging. 2012 Mar;33(3):630.e3-8. (PMID: 22118904)
Amyotroph Lateral Scler Frontotemporal Degener. 2013 May;14 Suppl 1:33-43. (PMID: 23678878)
Neurobiol Aging. 2013 Jan;34(1):357.e1-5. (PMID: 22921269)
N Engl J Med. 2007 Aug 23;357(8):775-88. (PMID: 17671248)
Brain. 2006 Apr;129(Pt 4):868-76. (PMID: 16495328)
Hum Mol Genet. 2008 Mar 1;17(5):768-74. (PMID: 18057069)
Arch Neurol. 2007 Feb;64(2):240-5. (PMID: 17296840)
Lancet Neurol. 2011 Jan;10(1):75-82. (PMID: 21035400)
JAMA. 2000 Oct 4;284(13):1664-9. (PMID: 11015796)
Lancet Neurol. 2008 May;7(5):409-16. (PMID: 18396105)
Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):350-4. (PMID: 19922123)
Neurobiol Aging. 2011 Apr;32(4):758.e1-7. (PMID: 21257233)
Neurobiol Aging. 2013 Jan;34(1):357.e7-19. (PMID: 22959728)
المشرفين على المادة: 0 (C9orf72 Protein)
0 (C9orf72 protein, human)
0 (Epithelial Sodium Channels)
0 (Guanine Nucleotide Exchange Factors)
0 (Nerve Tissue Proteins)
0 (Proteins)
0 (SCNN1A protein, human)
0 (SOD1 protein, human)
0 (T-Lymphoma Invasion and Metastasis-inducing Protein 1)
0 (TIAM1 protein, human)
0 (UNC13B protein, human)
EC 1.15.1.1 (Superoxide Dismutase)
EC 1.15.1.1 (Superoxide Dismutase-1)
تواريخ الأحداث: Date Created: 20140205 Date Completed: 20150207 Latest Revision: 20221207
رمز التحديث: 20221213
DOI: 10.1007/s10072-014-1656-1
PMID: 24493373
قاعدة البيانات: MEDLINE
الوصف
تدمد:1590-3478
DOI:10.1007/s10072-014-1656-1