Novel modulating effects of PKC family genes on the relationship between serum vitamin D and relapse in multiple sclerosis

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 85, Issue 4, 2014, Pages 399-404

  Lin, Rui ^a   Taylor, Bruce V ^a   Simpson, Steve ^a   Charlesworth, Jac ^a   Ponsonby, Anne Louise ^b   Pittas, Fotini ^c   Dwyer, Terence ^b   Van Der Mei, Ingrid A F ^a  

^a UNIVERSITY OF TASMANIA   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF TASMANIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

25 HYDROXYVITAMIN D; PROTEIN KINASE C; RETINOID X RECEPTOR; VITAMIN D RECEPTOR;

ADULT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; CYP2R1 GENE; FEMALE; GENE; GENE FREQUENCY; GENE INTERACTION; GENETIC ASSOCIATION; GENETIC RISK; HUMAN; MAJOR CLINICAL STUDY; MALE; MULTIPLE SCLEROSIS; NEUROMODULATION; PKC GENE; PRIORITY JOURNAL; PRKCB GENE; PRKCH GENE; PRKCZ GENE; PROSPECTIVE STUDY; RELAPSE; RISK ASSESSMENT; RISK FACTOR; SINGLE NUCLEOTIDE POLYMORPHISM; VITAMIN BLOOD LEVEL; VITAMIN D METABOLISM;

EPIDEMIOLOGY; GENETICS; MULTIPLE SCLEROSIS;

FEMALE; GENE-ENVIRONMENT INTERACTION; HUMANS; MALE; MIDDLE AGED; MULTIPLE SCLEROSIS, RELAPSING-REMITTING; POLYMORPHISM, SINGLE NUCLEOTIDE; PROSPECTIVE STUDIES; PROTEIN KINASE C; RECEPTORS, CALCITRIOL; RECURRENCE; RETINOID X RECEPTORS; SIGNAL TRANSDUCTION; VITAMIN D;

EID: 84895818905     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp-2013-305245     Document Type: Article

References (40)

1. Lin R, Charlesworth J, van der Mei I, et al. The genetics of multiple sclerosis. Pract Neurol 2012;12:279-88.
2. Munger KL, Levin LI, Hollis BW, et al. Serum 25-hydroxyvitamin D levels and risk of multiple sclerosis. JAMA 2006;296:2832-8. (Pubitemid 44969183)
3. Lucas RM, Ponsonby AL, Dear K, et al . Sun exposure and vitamin D are independent risk factors for CNS demyelination. Neurology 2011;76:540-8.
4. Soilu-Hanninen M, Laaksonen M, Laitinen I, et al. A longitudinal study of serum 25-hydroxyvitamin D and intact parathyroid hormone levels indicate the importance of vitamin D and calcium homeostasis regulation in multiple sclerosis. J Neurol Neurosurg Psychiatry 2008;79:152-7. (Pubitemid 351236545)
5. Soilu-Hanninen M, Airas L, Mononen I, et al. 25-Hydroxyvitamin D levels in serum at the onset of multiple sclerosis. Mult Scler 2005;11:266-71. (Pubitemid 40775180)
6. Simpson S Jr., Taylor B, Blizzard L, et al. Higher 25-hydroxyvitamin D is associated with lower relapse risk in multiple sclerosis. Ann Neurol 2010;68:193-203.
7. Runia TF, Hop WC, de Rijke YB, et al. Lower serum vitamin D levels are associated with a higher relapse risk in multiple sclerosis. Neurology 2012;79:261-6.
8. Mowry EM, Krupp LB, Milazzo M, et al . Vitamin D status is associated with relapse rate in pediatric-onset multiple sclerosis. Ann Neurol 2010;67:618 -24.
9. Ascherio A, Munger KL, Simon KC. Vitamin D and multiple sclerosis. Lancet Neurol 2010;9:599-612.
10. Patsopoulos NA, de Bakker PI, Esposito F, et al. Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Ann Neurol 2011;70:897-912.
11. Sawcer S, Hellenthal G, Pirinen M, et al. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 2011;476:214-19.
12. Simon KC, Munger KL, Xing Y, et al. Polymorphisms in vitamin D metabolism related genes and risk of multiple sclerosis. Mult Scler 2010;16:133-8.
13. Dickinson JL, Perera DI, van der Mei AF, et al. Past environmental sun exposure and risk of multiple sclerosis: a role for the Cdx-2 Vitamin D receptor variant in this interaction. Mult Scler 2009;15:563-70.
14. Baranzini SE, Wang J, Gibson RA, et al. Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis. Hum Mol Genet 2009;18:767-78.
15. Pittas F, Ponsonby AL, van der Mei IA, et al. Smoking is associated with progressive disease course and increased progression in clinical disability in a prospective cohort of people with multiple sclerosis. J Neurol 2009;256:577-85.
16. McDonald WI, Compston A, Edan G, et al. Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol 2001;50:121-7.
17. Zerwekh JE. Blood biomarkers of vitamin D status. Am J Clin Nutr 2008;87:1087S-91S. (Pubitemid 351549268)
18. The Australia and New Zealand Multiple Sclerosis Genetics Consortium (ANZgene). Genome-wide association study identifies new multiple sclerosis susceptibility loci on chromosomes 12 and 20. Nat Genet 2009;41:824-8.
19. Purcell S, Neale B, Todd-Brown K, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 2007;81:559-75. (Pubitemid 47330214)
20. Clarke L, Zheng-Bradley X, Smith R, et al. The 1000 Genomes Project: data management and community access. Nat Methods 2012;9:459-62.
21. Johnson AD, Handsaker RE, Pulit SL, et al. SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap. Bioinformatics 2008;24:2938-9.
22. van der Mei IA, Ponsonby AL, Dwyer T, et al. Past exposure to sun, skin phenotype, and risk of multiple sclerosis: case-control study. BMJ 2003;327:316.
23. Prentice RL, Williams BJ, Peterson AV. On the regression analysis of multivariate failure time data. Biometrika 1981;68:373-9.
24. Kodavanti PR. Cell signaling and neurotoxicity: protein kinase C in vitro and in vivo. Methods Mol Biol 2011;758:307-19.
25. Schwartz Z, Sylvia VL, Luna MH, et al. The effect of 24R,25-(OH)(2)D(3) on protein kinase C activity in chondrocytes is mediated by phospholipase D whereas the effect of 1alpha,25-(OH)(2)D(3) is mediated by phospholipase C. Steroids 2001;66:683-94. (Pubitemid 32799195)
26. Boyan BD, Chen J, Schwartz Z. Mechanism of Pdia3-dependent 1alpha,25-dihydroxy vitamin D3 signaling in musculoskeletal cells. Steroids 2012;77:892-6.
27. Noseworthy JH, Lucchinetti C, Rodriguez M, et al. Multiple sclerosis. N Engl J Med 2000;343:938-52.
28. Baier G. The PKC gene module: molecular biosystematics to resolve its T cell functions. Immunol Rev 2003;192:64-79. (Pubitemid 36613324)
29. Volkov Y, Long A, McGrath S, et al . Crucial importance of PKC- '(I) in LFA-1-mediated locomotion of activated T cells. Nat Immunol 2001;2:508-14. (Pubitemid 33705852)
30. Gomez J, Pitton C, Garcia A, et al. The zeta isoform of protein kinase C controls interleukin-2-mediated proliferation in a murine T cell line: evidence for an additional role of protein kinase C epsilon and beta. Exp Cell Res 1995;218:105-13.
31. Barton A, Woolmore JA, Ward D, et al. Association of protein kinase C alpha (PRKCA) gene with multiple sclerosis in a UK population. Brain 2004;127:1717-22. (Pubitemid 39061548)
32. Saarela J, Kallio SP, Chen D, et al. PRKCA and multiple sclerosis: association in two independent populations. PLoS Genet 2006;2:e42.
33. Sheng YJ, Gao JP, Li J, et al. Follow-up study identifies two novel susceptibility loci PRKCB and 8p11.21 for systemic lupus erythematosus. Rheumatology (Oxford) 2011;50:682-8.
34. Takata Y, Hamada D, Miyatake K, et al. Genetic association between the PRKCH gene encoding protein kinase Ceta isozyme and rheumatoid arthritis in the Japanese population. Arthritis Rheum 2007;56:30-42. (Pubitemid 46106177)
35. Okada Y, Terao C, Ikari K, et al. Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. Nat Genet 2012;44:511-16.
36. Wang TJ, Zhang F, Richards JB, et al. Common genetic determinants of vitamin D insufficiency: a genome-wide association study. Lancet 2010;376:180-8.
37. Hsieh JC, Jurutka PW, Nakajima S, et al. Phosphorylation of the human vitamin D receptor by protein kinase C. Biochemical and functional evaluation of the serine 51 recognition site. J Biol Chem 1993;268:15118-26. (Pubitemid 23206664)
38. Smolders J, Thewissen M, Peelen E, et al. Vitamin D status is positively correlated with regulatory T cell function in patients with multiple sclerosis. PLoS One 2009;4:e6635.
39. Bodmer W, Bonilla C. Common and rare variants in multifactorial susceptibility to common diseases. Nature genetics 2008;40:695-701. (Pubitemid 351748875)
40. Baranzini SE, Galwey NW, Wang J, et al. Pathway and network-based analysis of genome-wide association studies in multiple sclerosis. Hum Mol Genet 2009;18:2078-90.