Association of HLA-DRB1*1501 tagging rs3135388 gene polymorphism with multiple sclerosis

被引：23

作者：

Benesova, Yvonne ^{[1
,2
]}

Vasku, Anna ^{[3
]}

Stourac, Pavel ^{[1
,2
,4
]}

Hladikova, Magdalena ^{[1
,2
]}

Fiala, Adam ^{[3
]}

Bednarik, Josef ^{[1
,2
,4
]}

机构：

[1] Univ Hosp Brno, Dept Neurol, Brno 62500, Czech Republic

[2] Masaryk Univ, Fac Med, Brno 62500, Czech Republic

[3] Masaryk Univ, Dept Pathol Physiol, Fac Med, Brno 62500, Czech Republic

[4] Masaryk Univ, Cent European Inst Technol CEITEC, Brno 62500, Czech Republic

来源：

JOURNAL OF NEUROIMMUNOLOGY | 2013年 / 255卷 / 1-2期

关键词：

Gene; HLA-DRB1*1501; Multiple sclerosis; Tagging polymorphism; EPSTEIN-BARR-VIRUS; HLA-DR15; HAPLOTYPE; DISEASE; HLA; MS; RISK; DISABILITY; ALLELES; REGION; SNP;

D O I：

10.1016/j.jneuroim.2012.10.014

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

We investigated the HIA-DRB1*1501 tagging rs3135388 gene polymorphism and its association with multiple sclerosis (MS) susceptibility, disability and gender differences. The study group consisted of 306 MS patients and 137 healthy individuals. A significant difference in genotype distribution (Pg=3.06 x 10(-8)) and allele frequency (Pa=6.08 x 10(-10)) between MS patients and controls was demonstrated. The homozygotes M and heterozygotes GA were more frequent in MS patients (OR=4.27, 95% CI: 2.64-6.92). A significant difference between female MS patients and female controls in genotype distribution (Pg=1.3 x 10(-8)) and allele frequency (Pa=2.82 x 10(-8)); (OR=5.11, 95% CI: 2.86-9.15) was also proved. Our results indicate that the distribution of the rs3135388 gene polymorphism is a risk factor for MS susceptibility in the Czech female population. (C) 2012 Elsevier B.V. All rights reserved.

引用

页码：92 / 96

页数：5

共 39 条

[1] Multiple Sclerosis Risk Variant HLA-DRB1*1501 Associates with High Expression of DRB1 Gene in Different Human Populations [J].

Alcina, Antonio ;

del Mar Abad-Grau, Maria ;

Fedetz, Maria ;

Izquierdo, Guillermo ;

Lucas, Miguel ;

Fernandez, Oscar ;

Ndagire, Dorothy ;

Catala-Rabasa, Antonio ;

Ruiz, Agustin ;

Gayan, Javier ;

Delgado, Concepcion ;

Arnal, Carmen ;

Matesanz, Fuencisla .

PLOS ONE, 2012, 7 (01)

[2] HLA-multiple sclerosis association in continental Italy and correlation with disease prevalence in Europe [J].

Ballerini, C ;

Guerini, FR ;

Rombolà, G ;

Rosati, E ;

Massacesi, L ;

Ferrante, P ;

Caputo, D ;

Talamanca, LF ;

Naldi, P ;

Liguori, M ;

Alizadeh, M ;

Momigliano-Richiardi, P ;

D'Alfonso, S .

JOURNAL OF NEUROIMMUNOLOGY, 2004, 150 (1-2) :178-185

[3] Genetic epidemiology 3 - Genetic association studies [J].

Cordell, HJ ;

Clayton, DG .

LANCET, 2005, 366 (9491) :1121-1131

[4] Strength of TCR-Peptide/MHC Interactions and In Vivo T Cell Responses [J].

Corse, Emily ;

Gottschalk, Rachel A. ;

Allison, James P. .

JOURNAL OF IMMUNOLOGY, 2011, 186 (09) :5039-5045

[5] Potential association of vitamin D receptor polymorphism Taq1 with multiple sclerosis [J].

Cox, Mathew B. ;

Ban, Maria ;

Bowden, Nikola A. ;

Baker, Amie ;

Scott, Rodney J. ;

Lechner-Scott, Jeannette .

MULTIPLE SCLEROSIS JOURNAL, 2012, 18 (01) :16-22

[6] A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC [J].

de Bakker, Paul I. W. ;

McVean, Gil ;

Sabeti, Pardis C. ;

Miretti, Marcos M. ;

Green, Todd ;

Marchini, Jonathan ;

Ke, Xiayi ;

Monsuur, Alienke J. ;

Whittaker, Pamela ;

Delgado, Marcos ;

Morrison, Jonathan ;

Richardson, Angela ;

Walsh, Emily C. ;

Gao, Xiaojiang ;

Galver, Luana ;

Hart, John ;

Hafler, David A. ;

Pericak-Vance, Margaret ;

Todd, John A. ;

Daly, Mark J. ;

Trowsdale, John ;

Wijmenga, Cisca ;

Vyse, Tim J. ;

Beck, Stephan ;

Murray, Sarah Shaw ;

Carrington, Mary ;

Gregory, Simon ;

Deloukas, Panos ;

Rioux, John D. .

NATURE GENETICS, 2006, 38 (10) :1166-1172

[7] Integrating risk factors - HLA-DRB1*1501 and Epstein-Barr virus in multiple sclerosis [J].

De Jager, P. L. ;

Simon, K. C. ;

Munger, K. L. ;

Rioux, J. D. ;

Hafler, D. A. ;

Ascherio, A. .

NEUROLOGY, 2008, 70 (13) :1113-1118

[8]

Ebers G., 1995, MS FOR MOD MAN WORKS

[9] DQB1*0602 allele shows a strong association with multiple sclerosis in patients in Malaga, Spain [J].

Fernández, O ;

Fernández, V ;

Alonso, A ;

Caballero, A ;

Luque, G ;

Bravo, M ;

León, A ;

Mayorga, C ;

Leyva, L ;

de Ramón, E .

JOURNAL OF NEUROLOGY, 2004, 251 (04) :440-444

[10] Does the DRB1*1501 allele confer more severe and faster progression in primary progressive multiple sclerosis patients? HLA in primary progressive multiple sclerosis [J].

Ferreira Vasconcelos, Claudia Cristina ;

Fernandez, Oscar ;

Leyva, Laura ;

Santos Thuler, Luiz Claudio ;

Papais Alvarenga, Regina Maria .

JOURNAL OF NEUROIMMUNOLOGY, 2009, 214 (1-2) :101-103

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