Association of intronic sequence variant in the gene encoding spleen tyrosine kinase with susceptibility to vascular dementia

World Journal of Biological Psychiatry

Volumn 14, Issue 3, 2013, Pages 220-226

  Kim, Younyoung ^a   Kong, Minyoung ^a   Lee, Chaeyoung ^a  

^a Soongsil University   (South Korea)

Author keywords

Dementia; Genetics; Genome wide association study; Polymorphism; Spleen tyrosine kinase

Indexed keywords

PROTEIN KINASE SYK;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRANSCRIPTION; GENETIC VARIABILITY; HUMAN; HUMAN TISSUE; IN VIVO STUDY; INTRON; MAJOR CLINICAL STUDY; MULTIINFARCT DEMENTIA;

AGED; ALTERNATIVE SPLICING; COMPUTER SIMULATION; DEMENTIA, VASCULAR; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; INTRONS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-TYROSINE KINASES;

EID: 84875174585     PISSN: 15622975     EISSN: 18141412     Source Type: Journal    
DOI: 10.3109/15622975.2011.559272     Document Type: Article

References (30)

1. American Psychiatric Association. 1994. Diagnostic and Statistical Manual of Mental Disorders. 4th ed. Washington, DC: American Psychiatric Press.
2. Bonizzoni P, Rizzi R, Pesole G. 2005. ASPIC: a novel method to predict the exon-intron structure of a gene that is optimally compatible to a set of transcript sequences. BMC Bioinformatics 6:244.
3. Cáceres JF, Misteli T, Screaton GR, Spector DL, Krainer AR. 1997. Role of the modular domains of SR proteins in subnuclear localization and alternative splicing specificity. J Cell Biol 138:225-238.
4. Calvano SE, Xiao W, Richards DR, Felciano RM, Baker HV, Cho RJ, et al. 2005. A network-based analysis of systemic inflammation in humans. Nature 437:1032-1037.
5. Cavaloc Y, Popielarz M, Fuchs JP, Gattoni R, Stevenin J. 1994. Characterization and cloning of the human splicing factor 9G8: a novel 35 kDa factor of the serine/arginine protein family. EMBO J 13:2639-2649.
6. de la Grange P, Dutertre M, Martin N, Auboeuf D. 2005. FAST DB: a website resource for the study of the expression regulation of human gene products. Nucleic Acids Res 33:4276-4284.
7. Flex A, Gaetani E, Proia AS, Pecorini G, Straface G, Biscetti F, et al. 2006. Analysis of functional polymorphisms of metalloproteinase genes in persons with vascular dementia and Alzheimer's disease. J Gerontol A Biol Sci Med Sci 61:1065-1069.
8. Garcia J, Ahmadi A, Wonnacott A, Sutcliffe W, Nagga K, Soderkvist P, et al. 2006. Association of insulin-like growth factor-1 receptor polymorphism in dementia. Dement Geriatr Cogn Disord 22:439-444.
9. Graveley BR. 2000. Sorting out the complexity of SR protein functions. RNA 6:1197-1211.
10. Ikeda M, Hokoishi K, Maki N, Nebu A, Tachibana N, Komori K, et al. 2001. Increased prevalence of vascular dementia in Japan: a community-based epidemiological study. Neurology 57:839-844.
11. Kim Y, Nam YJ, Lee C. 2005. Analysis of the SREBF2 gene as a genetic risk factor for vascular dementia. Am J Med Genet B Neuropsychiatr Genet 139:19-22.
12. Kim Y, Nam YJ, Lee C. 2006a. Haplotype analysis of single nucleotide polymorphisms in VEGF gene for vascular dementia. Am J Med Genet B Neuropsychiatr Genet 141:332-335.
13. Kim Y, Kim JH, Nam YJ, Kim YJ, Yu KH, Lee BC, et al. 2006b. Sequence variants of ACE, AGT, AT1R, and PAI-1 as genetic risk factors for vascular dementia. Neurosci Lett 401: 276-279.
14. Kim Y, Kim JH, Nam YJ, Kong M, Kim YJ, Yu KH, et al. 2006c. Klotho is a genetic risk factor for ischemic stroke caused by cardioembolism in Korean females. Neurosci Lett 407:189-194.
15. Kim Y, Lee C. 2006d. The gene encoding transforming growth factor beta 1 confers risk of ischemic stroke and vascular dementia. Stroke 37:2843-2845.
16. Lee C. 2009. Vascular dementia. In: Lang F, editor. Encyclopedia of molecular mechanisms of disease. Berlin: Springer. p 512-514.
17. Miller YI, Choi SH, Fang L, Harkewicz R. 2009. Toll-like receptor- 4 and lipoprotein accumulation in macrophages. Trends Cardiovasc Med 19:227-232.
18. Mocsai A, Ruland J, Tybulewicz VL. 2010. The SYK tyrosine kinase: a crucial player in diverse biological functions. Nat Rev Immunol 10:387-402.
19. Psychiatric GWAS Consortium Coordinating Committee, Cichon S, Craddock N, Daly M, Faraone SV, Gejman PV, et al. 2009. Genomewide association studies: history, rationale, and prospects for psychiatric disorders. Am J Psychiatry 166:540-556.
20. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, et al. 2007. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81:559-575.
21. Roman GC, Tatemichi TK, Erkinjuntti T, Cummings JL, Masdeu JC, Garcia JH, et al. 1993. Vascular dementia: diagnostic criteria for research studies. Report of the NINDSAIREN International Workshop. Neurology 43:250-260.
22. Sakabe NJ, de Souza SJ. 2007. Sequence features responsible for intron retention in human. BMC Genomics 8:59.
23. Thanaraj TA, Stamm S, Clark F, Riethoven JJ, Le Texier V, Muilu J. 2004. ASD: the alternative splicing database. Nucleic Acids Res 32:D64 - D69.
24. The Wellcome Trust Case Control Consortium. 2007. Genomewide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature 447:661-678.
25. Tomlinson IP, Webb E, Carvajal-Carmona L, Broderick P, Howarth K, Pittman AM, et al. 2008. A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p14 and 8q23.3. Nat Genet 40:623-630.
26. Wang HK, Hsu WC, Fung HC, Lin JC, Hsu HP, Wu YR, et al. 2007. Interleukin-1alpha and -1beta promoter polymorphisms in Taiwanese patients with dementia. Dement Geriatr Cogn Disord 24:104-110.
27. Wang Z, Rolish ME, Yeo G, Tung V, Mawson M, Burge CB. 2004. Systematic identification and analysis of exonic splicing silencers. Cell 119:831-845.
28. Wang Z, Xiao X, Van Nostrand E, Burge CB. 2006. General and specific functions of exonic splicing silencers in splicing control. Mol Cell 23:61-70.
29. Wu Y, Zhang Y, Zhang J. 2005. Distribution of exonic splicing enhancer elements in human genes. Genomics 86:329-336.
30. Xiao X, Wang Z, Jang M, Burge CB. 2007. Coevolutionary networks of splicing cis-regulatory elements. Proc Natl Acad Sci USA 104:18583-18588.