Influence of CCR5-Δ32 genotype in Spanish population with multiple sclerosis

Neurogenetics

Volumn 8, Issue 3, 2007, Pages 201-205

  Otaegui, D ^a,b   Ruiz Martinez J ^a   Olaskoaga, J ^a   Emparanza, J I ^a   De Munain, A López ^a,b  

^a HOSPITAL DONOSTIA   (Spain)

^b Ilundain Foundation   (Spain)

Author keywords

32; Basque; CCR5; Multiple sclerosis

Indexed keywords

CHEMOKINE RECEPTOR CCR5;

ADULT; ALLELE; ARTICLE; CONTROLLED STUDY; ETHNIC GROUP; GENE DELETION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MULTIPLE SCLEROSIS; PRIORITY JOURNAL; SPAIN; STATISTICAL SIGNIFICANCE; CHROMOSOME MAP; GENETICS; REFERENCE VALUE; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME MAPPING; ETHNIC GROUPS; GENOTYPE; HUMANS; MULTIPLE SCLEROSIS; MULTIPLE SCLEROSIS, CHRONIC PROGRESSIVE; MULTIPLE SCLEROSIS, RELAPSING-REMITTING; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, CCR5; REFERENCE VALUES; SEQUENCE DELETION; SPAIN;

EID: 34447344845     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-007-0085-1     Document Type: Article

References (36)

1. Fernandez O, Luque G, San RC, Bravo M, Dean G (1994) The prevalence of multiple sclerosis in the Sanitary District of Velez-Malaga, southern Spain. Neurology 44(3 Pt 1):425-429
2. Rodríguez-Antiguedad AR (1999) Esclerosis múltiple, análisis clínico retrospectivo y prospectivo de una serie hospitalaria de base poblacional. Dissertation, UPV/EHU
3. Goertsches R, Villoslada P, Comabella M, Montalban X, Navarro A, De La Concha EG et al (2003) A genomic screen of Spanish multiple sclerosis patients reveals multiple loci associated with the disease. J Neuroimmunol 143(1-2):124-128
4. Oksenberg JR, Barcellos LF, Cree BA, Baranzini SE, Bugawan TL, Khan O et al (2004) Mapping multiple sclerosis susceptibility to the HLA-DR locus in African Americans. Am J Hum Genet 74(1):160-167
5. Villoslada P, Barcellos LF, Rio J, Begovich AB, Tintore M, Sastre-Garriga J et al (2002) The HLA locus and multiple sclerosis in Spain. Role in disease susceptibility, clinical course and response to interferon-beta. J Neuroimmunol 130(1-2):194-201
6. de Bakker PI, McVean G, Sabeti PC, Miretti MM, Green T, Marchini J et al (2006) A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet 38(10):1166-1172
7. Kantarci OH, Morales Y, Ziemer PA, Hebrink DD, Mahad DJ, Atkinson EJ et al (2005) CCR5Delta32 polymorphism effects on CCR5 expression, patterns of immunopathology and disease course in multiple sclerosis. J Neuroimmunol 169(1-2):137-143
8. Gerard C, Rollins BJ (2001) Chemokines and disease. Nat Immunol 2:108-115
9. Simpson J, Newcombe J, Cuzner ML, Woodroofe M (2000) Expression of the intereferon-gamma-inducible chemokines IP-10 and Mig and their receptor, CXCR3, in multiple sclerosis lesions. Neuropathol Appl Neurobiol 26:133-142
10. Weiss J, Downie S, Lyman W, Berman J (1998) Astrocyte-derived monocyte-chemottractant protein-1 directs the transmigration of leukocytes across a model of the human blood-brain barrier. J Immunol 161:6896-6903
11. Sawcer S, Maranian M, Setakis E, Curwen V, Akesson E, Hensiek A et al (2002) A whole genome screen for linkage disequilibrium in multiple sclerosis confirms disease associations with regions previously linked to susceptibility. Brain 125(Pt 6):1337-1347
12. Ebers GC, Kukay K, Bulman DE, Sadovnick AD, Rice G (1996) A full genome search in multiple sclerosis. Nat Genet 13:472-476
13. Benkirane M, jin D, Chun R, Koup R, Jeang K (1997) Mechanism of transdominant inhibition of CCR5-mediated HIV-1 infection by CCR5Ä32. J Biol Chem 272:30603-30606
14. Zapico I, Coto E, Rodriguez A, Alvarez V, Torre J, Alvarez C (2000) CCR5 (chemochine receptor-5) DNA-polymorphisms influences the severity of rheumatoid arthritis. Genes Immun 1:288-289
15. Reynes J, Portales P, Segondy M (2001) CD4 T cell surface CCR5 density as a host factor in HIV-1 disease progression. Aids 15:1627-1634
16. Jalonen T, Pulkkinen K, Ukkonen M, Saarela M, Elovaara I (2002) Differential intracellular expression of CCR5 and chemokines in multiple sclerosis subtypes. J Neurol 249:576-583
17. Pulkkinen K, Luomala M, Kuusisto H, Lehtimaki T, Saarela J, Jalonen T et al (2004) Increase in CCR5 Ä32/Ä32 genotype in multiple sclerosis. Acta Neurol Scand 109:342-347
18. Silversides JA, Heggarty SV, McDonnell GV, Hawkins SA, Graham CA (2004) Influence of CCR5 delta32 polymorphism on multiple sclerosis susceptibility and disease course. Mult Scler 10(2):149-152
19. Gade-Andavolu R, Comings DE, MacMurray J, Rostamkhani M, Cheng L, Tourtellotte W et al (2004) Association of CCR5 Ä32 deletion with early death in multiple sclerosis. Genet Med 3:126-131
20. Favorova OO, Favorov AV, Boiko AN, Andreewski TV, Sudomoina MA, Alekseenkov AD et al (2006) Three allele combinations associated with multiple sclerosis. BMC Med Genet 7(1):63
21. McDonald WI, Compston A, Edan G, Goodkin D, Hartung HP, Lublin FD et al (2001) Recommended diagnostic criteria for multiple sclerosis: guidelines from the International Panel on the diagnosis of multiple sclerosis. Ann Neurol 50(1):121-127
22. Kurtzke JF (1983) Rating neurologic impairment in multiple sclerosis. An expanded disability status scale (EDSS). Neurology 33:144-152
23. Otaegui D, Saenz A, Martinez-Zabaleta M, Villoslada P, Fernandez-Manchola I, Alvarez dA et al (2004) Mitochondrial haplogroups in Basque multiple sclerosis patients. Mult Scler 10(5):532-535
24. Ristic S, Lovrecic L, Starcevic-Cizmarevic N, Brajenovic-Milic B, Jazbec SS, Barac-Latas V et al (2006) No association of CCR5delta32 gene mutation with multiple sclerosis in Croatian and Slovenian patients. Mult Scler 12(3):360-362
25. Barcellos LF, Schito AM, Rimmler JB, Vittinghoff E, Shih A, Lincoln R et al (2000) CC-chemokine receptor 5 polymorphism and age of onset in familial multiple sclerosis. Multiple sclerosis genetics group. Immunogenetics 51(4-5):281-288
26. Mahad DJ, Trebst C, Kivisakk P, Staugaitis SM, Tucky B, Wei T et al (2004) Expression of chemokine receptors CCR1 and CCR5 reflects differential activation of mononuclear phagocytes in pattern II and pattern III multiple sclerosis lesions. J Neuropathol Exp Neurol 63(3):262-273
27. Kantor R, Bakhanashvili M, Achiron A (2003) A mutated CCR5 gene may have favorable prognostic implications in MS. Neurology 61(2):238-240
28. Elovaara I, Kuusisto H, Paalavuo R, Sarkijarvi S, Lehtimaki T, Huhtala H et al (2006) Effect of high-dose methylprednisolone treatment on CCR5 expression on blood cells in MS exacerbation. Acta Neurol Scand 113(3):163-166
29. Julia E, Montalban X, Al-Zayat H, Issazadeh-Navikas S, Goertsches R, Martin R et al (2006) Deficient Fas expression by CD4+ CCR5+ T cells in multiple sclerosis. J Neuroimmunol 180:147-158
30. Otaegui D, Saenz A, Ruiz-Martinez J, Olaskoaga J, Lopez de Munain A (2006) UCP2 and mitochondrial haplogroups as an MS risk-factor. Mult Scler (in press)
31. Peterlin B, Ristic S, Sepcic J, Koncan Vracko B, Rako A, Lovrecic L et al (2006) Region with persistent high frequency of multiple sclerosis in Croatia and Slovenia. J Neurol Sci 247:169-172
32. Kurtzke JF (2000) Epidemiology of multiple sclerosis. Does this really point toward an etiology? Neurol Sci 21:383-403
33. Paisan-Ruiz C, Jain S, Evans E, Gilks W, Simon J, Van der Brug M et al (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44(4):595-600
34. Cobo AM, Saenz A, Poza JJ, Urtasun M, Indakoetxea B, Urtizberea JA et al (2004) A common haplotype associated with the Basque 2362AG → TCATCT mutation in the muscular calpain-3 gene. Hum Biol 76(5):731-741
35. Urtasun M, Saenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM et al (1998) Limb-girdle muscular dystrophy in Guipuzcoa (Basque Country, Spain). Brain 121(Pt 9):1735-1747
36. Saenz A, Leturcq F, Cobo AM, Poza JJ, Ferrer X, Otaegui D et al (2005) LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. Brain 128(Pt 4):732-742