Association between synapsin III gene promoter SNPs and multiple sclerosis in Basque patients

Multiple Sclerosis

Volumn 15, Issue 1, 2009, Pages 124-128

  Otaegui, David ^a,b   Zuriarrain, O ^a,b   Castillo Trivno T ^a   Aransay, A M ^c   Ruiz Martinez J ^a   Olaskoaga, J ^a   Marti Masso, J F ^a   Lopez de Munain, A ^a  

^a HOSPITAL DONOSTIA   (Spain)

^b Ilundain Foundation   (Spain)

^c CIC BIOGUNE   (Spain)

Author keywords

Basque; Multiple sclerosis; rs133945; rs133946; Syn III

Indexed keywords

SYNAPSIN; SYNAPSIN III; UNCLASSIFIED DRUG;

ARTICLE; CONTROLLED STUDY; ETHNIC DIFFERENCE; ETHNIC GROUP; GENETIC ASSOCIATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLE SCLEROSIS; MUTATION RATE; MUTATIONAL ANALYSIS; PATHOGENESIS; POLYMERASE CHAIN REACTION; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; SPAIN;

ADULT; ETHNIC GROUPS; GENOTYPE; HUMANS; MIDDLE AGED; MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE; MULTIPLE SCLEROSIS, RELAPSING-REMITTING; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS, GENETIC; SPAIN; SYNAPSINS;

EID: 58149085805     PISSN: 13524585     EISSN: None     Source Type: Journal    
DOI: 10.1177/1352458508096682     Document Type: Article

References (24)

1. Oksenberg JR Barcellos LF. Multiple sclerosis genetics: Leaving no stone unturned. Genes Immun 2005; 6: 375-387.
2. De Santis ML Roth GA Cumar FA. Cellular immune crossreactivity between myelin basic protein and synapsin in rats with experimental allergic encephalomyelitis. J Neurosci Res 1992; 31: 46-51.
3. Pedraza LT Roth GA Cumar FA. Identification as synapsin of a synaptosomal protein immunoreacting with anti-myelin basic protein antiserum. J Neurochem 1988; 51: 413-420.
4. Polak T Schlaf G Scholl U. Characterization of the human T cell response against the neuronal protein synapsin in patients with multiple sclerosis. J Neuroimmunol 2001; 115: 176-181.
5. Ryan TA Li L Chin LS Greengard P Smith SJ. Synaptic vesicle recycling in synapsin I knock-out mice. J Cell Biol 1996; 134: 1219-1227.
6. Zurmohle U Herms J Schlingensiepen R Brysch W Schlingensiepen KH. Changes in the expression of synapsin I and II messenger RNA during postnatal rat brain development. Exp Brain Res 1996; 108: 441-449.
7. Hilfiker S Pieribone VA Czernik AJ Kao HT Augustine GJ Greengard P. Synapsins as regulators of neurotransmitter release. Philos Trans R Soc Lond B Biol Sci 1999; 354: 269-279.
8. Jovanovic JN Benfenati F Siow YL. Neurotrophins stimulate phosphorylation of synapsin I by MAP kinase and regulate synapsin I-actin interactions. Proc Natl Acad Sci U S A 1996; 93: 3679-3683.
9. D'Alfonso S Nistico L Zavattari P. Linkage analysis of multiple sclerosis with candidate region markers in Sardinian and Continental Italian families. Eur J Hum Genet 1999; 7: 377-385.
10. Goertsches R Villoslada P Comabella M. A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease. J Neuroimmunol 2003; 143: 124-128.
11. Haskin Fernald G; Ru-Fang Y; Hauser SL; Oksenberg J; Baranzini SE;. Mapping gene activity in complex disorders: Integration of expression and genomic scans for multiple sclerosis. Journal of Immunology 2005; 167: 157-159 [Generic].
12. Liguori M Cittadella R Manna I. Association between Synapsin III gene promoter polymorphisms and multiple sclerosis. J Neurol 2004; 251: 165-170.
13. Akkad D Godde R Epplen JT. No association between synapsin III gene promoter polymorphisms and multiple sclerosis in German patients. J Neurol 2006; 253: 1365-1366.
14. McDonald WI Compston A Edan G. Recommended diagnostic criteria for multiple sclerosis: Guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol 2001; 50: 121-127.
15. Kurtzke JF. Rating neurologic impairment in multiple sclerosis. An expanded disability status scale (EDSS). Neurology 1983; 33: 144-152.
16. Roxburgh RH Seaman SR Masterman T. Multiple Sclerosis Severity Score: using disability and disease duration to rate disease severity. Neurology 2005; 64: 1144-1151.
17. Otaegui D Sáenz A Martínez-Zabaleta M. Mitochondrial haplogroups in Basque multiple sclerosis patients. Mult Scler 2004; 10: 532-535.
18. Bland JM Altman DG. Multiple significance tests: The Bonferroni method. BMJ 1995; 310: 170.
19. Bonferroni CE;. Teoria statistica delle classi e calcolo delle probabilita. Pubblizaziononi del R istituto Superiore di Scienze Economiche e Commerciali di Firenze 1936; pp. 15-46.
20. Holm S. A simple sequentially rejective multiple test procedure. Scand J Stat 1979; 6: 65-70.
21. Otaegui D Ruiz-Martinez J Olaskoaga J Emparanza JI López de Munain A. Influence of CCR5-delta32 genotype in Spanish population with multiple sclerosis. Neurogenetics 2007; 21(3): 201-205.
22. Lin P Vance JM Pericak-Vance M Martin ER. No gene is an island: The flip-flop phenomenon. Am J Hum Genet 2007; 80: 531-538.
23. Otaegui D Sáenz A Martínez-Zabaleta M. Mitochondrial haplogroups in Basque multiple sclerosis patients. Mult Scler 2004; 10: 532-535.
24. Otaegui D Sáenz A Ruiz-Martínez J Olaskoaga J López de Munain A. UCP2 and mitochondrial haplogroups as an MS risk-factor. Mult Scler 2006; 13(4): 454-458.