دورية أكاديمية
Determining the Effect of the HNMT, STK39, and NMD3 Polymorphisms on the Incidence of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple System Atrophy in Chinese Populations.
العنوان: | Determining the Effect of the HNMT, STK39, and NMD3 Polymorphisms on the Incidence of Parkinson's Disease, Amyotrophic Lateral Sclerosis, and Multiple System Atrophy in Chinese Populations. |
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المؤلفون: | Chen Y; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Cao B; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Ou R; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Wei Q; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Chen X; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Zhao B; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Wu Y; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Song W; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China., Shang HF; Department of Neurology, West China Hospital, Sichuan University, 37# Guoxuexiang, Chengdu, Sichuan, China. hfshang2002@126.com. |
المصدر: | Journal of molecular neuroscience : MN [J Mol Neurosci] 2018 Apr; Vol. 64 (4), pp. 574-580. Date of Electronic Publication: 2018 Mar 21. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: Humana Press Country of Publication: United States NLM ID: 9002991 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-1166 (Electronic) Linking ISSN: 08958696 NLM ISO Abbreviation: J Mol Neurosci Subsets: MEDLINE |
أسماء مطبوعة: | Publication: Totowa, NJ : Humana Press Original Publication: Boston : Birkhäuser [i.e. Cambridge, MA : Birkhäuser Boston, c1989- |
مواضيع طبية MeSH: | Polymorphism, Single Nucleotide*, Amyotrophic Lateral Sclerosis/*genetics , Histamine N-Methyltransferase/*genetics , Multiple System Atrophy/*genetics , Parkinson Disease/*genetics , Protein Serine-Threonine Kinases/*genetics , RNA-Binding Proteins/*genetics, Aged ; China ; Female ; Humans ; Male ; Middle Aged |
مستخلص: | Large-scale meta-analyses of genome-wide association studies have identified several loci linked to sporadic Parkinson's disease (PD). However, the roles of some important loci, such as HNMT Thr105Ile, STK39 rs2390669, and NMD3 rs34016896, have not been clarified in Chinese populations. Accumulating evidence indicates that some common clinicopathological characteristics are shared by different neurodegenerative diseases. Consequently, we conducted a large sample study to investigate associations between these variants and PD, multiple system atrophy (MSA), and amyotrophic lateral sclerosis (ALS) in Chinese populations. A total of 2417 patients, including 1237 PD, 850 SALS, and 330 MSA patients, along with 836 healthy controls (HCs) were examined in this study. All patients were genotyped for SNPs using the Sequenom iPLEX assay. No significant differences were found in the genotype and allele frequency distributions between the three neurodegenerative diseases and three candidate variants investigated. In subgroup analysis, compared with PD patients with initial symptom of tremor and HCs, the minor allele frequency of NMD3 rs34016896 in PD patients with initial symptoms of rigidity/bradykinesia was significantly lower. In addition, female patients carrying the rs34016896 minor allele had an increased risk of developing MSA (OR 1.25, 95% CI [1.09-1.43]), and ALS patients carrying the Ile105 polymorphism on the Thr105Ile allele in the HNMT gene exhibited a trend toward a delay in symptom onset of 3.010 ± 1.629 years. Our results indicate that the presence of the rs34016896 allele in the NMD3 gene may contribute to the development of synucleinopathies and that the Thr105Ile allele in the HNMT gene could potentially be an important therapeutic target for the treatment of ALS. |
References: | Neurobiol Aging. 2012 Apr;33(4):836.e1-3. (PMID: 21794955) Int J Mol Sci. 2016 Feb 02;17 (2):null. (PMID: 26848654) Neurology. 2008 Aug 26;71(9):670-6. (PMID: 18725592) Neurobiol Aging. 2017 Nov;59:220.e11-220.e18. (PMID: 28867149) Amyotroph Lateral Scler Other Motor Neuron Disord. 2000 Dec;1(5):293-9. (PMID: 11464847) Neurobiol Aging. 2016 Jan;37:209.e1-209.e7. (PMID: 26601739) Parkinsonism Relat Disord. 2010 Feb;16(2):112-4. (PMID: 19773194) PLoS One. 2015 Mar 13;10(3):e0119692. (PMID: 25768024) N Am J Med Sci. 2012 Aug;4(8):350-5. (PMID: 22912943) Adv Exp Med Biol. 2017;1007:89-109. (PMID: 28840554) Hum Genet. 2008 Apr;123(3):257-65. (PMID: 18210157) PLoS One. 2012;7(7):e41859. (PMID: 22911860) Mol Pharmacol. 1998 Apr;53(4):708-17. (PMID: 9547362) Exp Neurol. 2000 May;163(1):20-30. (PMID: 10785440) JAMA Neurol. 2014 Apr;71(4):429-35. (PMID: 24514572) Neurosci Lett. 2014 Apr 30;566:206-9. (PMID: 24631562) Neurosci Lett. 2015 Feb 5;587:68-71. (PMID: 25528405) PLoS Genet. 2011 Jun;7(6):e1002142. (PMID: 21738488) J Neurochem. 2002 Jun;81(5):954-60. (PMID: 12065607) J Neural Transm (Vienna). 2016 Apr;123(4):425-30. (PMID: 26914237) Lancet. 2011 Feb 19;377(9766):641-9. (PMID: 21292315) PLoS Genet. 2012;8(3):e1002548. (PMID: 22438815) Nucleic Acids Res. 2015 May 19;43(9):4491-504. (PMID: 25873624) Neuromolecular Med. 2008;10(1):10-6. (PMID: 17985251) Amyotroph Lateral Scler Frontotemporal Degener. 2015 Mar;16(1-2):40-5. (PMID: 25309978) Physiol Rev. 2008 Jul;88(3):1183-241. (PMID: 18626069) Control Clin Trials. 1990 Apr;11(2):116-28. (PMID: 2161310) Neurology. 2001 Nov;57(10 Suppl 3):S34-8. (PMID: 11775598) |
معلومات مُعتمدة: | 81571247 the funding of the National Science Fund of China; 81701249 the funding of the National Science Fund of China; 2017YFC0909101 the National Key Research and Development Program of China |
فهرسة مساهمة: | Keywords: Amyotrophic lateral sclerosis; Association analysis; Multiple system atrophy; Parkinson’s disease; Variants |
المشرفين على المادة: | 0 (NMD3 protein, human) 0 (RNA-Binding Proteins) EC 2.1.1.8 (Histamine N-Methyltransferase) EC 2.7.11.1 (Protein Serine-Threonine Kinases) EC 2.7.11.1 (STK39 protein, human) |
تواريخ الأحداث: | Date Created: 20180323 Date Completed: 20180918 Latest Revision: 20211204 |
رمز التحديث: | 20240628 |
DOI: | 10.1007/s12031-018-1048-8 |
PMID: | 29564728 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1559-1166 |
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DOI: | 10.1007/s12031-018-1048-8 |