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Novel variants identified in multiple sclerosis patients from southern China
Wang H.1,2; Pardeshi L.A.2; Rong X.1; Li E.2; Wong K.H.2; Peng Y.1; Xu R.-H.2
2018-07-25
Source PublicationFrontiers in Neurology
ISSN16642295
Volume9
Abstract

Background: Multiple sclerosis (MS) is an autoimmune and demyelinating disease. Genome-wide association studies have shown that MS is associated with many genetic variants in some human leucocyte antigen genes and other immune-related genes, however, those studies were mostly specific to Caucasian populations. We attempt to address whether the same associations are also true for Asian populations by conducting whole-exome sequencing on MS patients from southern China. Methods: Genomic DNA was extracted from the peripheral blood mononucleocytes of 8 MS patients and 26 healthy controls and followed by exome sequencing. Results: In total, 41,227 variants were found to have moderate to high impact on their protein products. After filtering per allele frequencies according to known database, 17 variants with the allele frequency < 1% or variants with undetermined frequency were identified to be unreported and have significantly different frequencies between the MS patients and healthy controls. After validation via Sanger sequencing, one rare variant located in exon 7 of TRIOBP (Chr22: 37723520G > T, Ala322Ser, rs201693690) was found to be a novel missense variant. Conclusion: MS in southern China may have association with unique genetic variants, our data suggest TRIOBP as a potential novel risk gene.

KeywordHuman Leucocyte Antigen Multiple Sclerosis Single Nucleotide Polymorphism Triobp Whole-exome Sequencing
DOI10.3389/fneur.2018.00582
URLView the original
Indexed BySCI
Language英语
WOS Research AreaNeurosciences & Neurology
WOS SubjectClinical Neurology ; Neurosciences
WOS IDWOS:000439813000001
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Cited Times [WOS]:2   [WOS Record]     [Related Records in WOS]
Document TypeJournal article
CollectionFaculty of Health Sciences
Corresponding AuthorPeng Y.; Xu R.-H.
Affiliation1.Department of Neurology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China
2.Faculty of Health Sciences, University of Macau, Taipa, Macau
First Author AffilicationFaculty of Health Sciences
Corresponding Author AffilicationFaculty of Health Sciences
Recommended Citation
GB/T 7714
Wang H.,Pardeshi L.A.,Rong X.,et al. Novel variants identified in multiple sclerosis patients from southern China[J]. Frontiers in Neurology,2018,9.
APA Wang H..,Pardeshi L.A..,Rong X..,Li E..,Wong K.H..,...&Xu R.-H..(2018).Novel variants identified in multiple sclerosis patients from southern China.Frontiers in Neurology,9.
MLA Wang H.,et al."Novel variants identified in multiple sclerosis patients from southern China".Frontiers in Neurology 9(2018).
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