The Role of CD247 Polymorphisms in Bulgarian Patients with Systemic Lupus Erythematosus

被引：0

作者：

Hristova, Maria ^{[1
,2
]}

Kamenarska, Zornitsa ^{[3
,4
]}

Dzhebir, Gyulnas ^{[3
,4
]}

Kaneva, Radka ^{[3
,4
]}

Vinkov, Anton ^{[5
]}

Mitev, Vanio ^{[3
,4
]}

Dourmishev, Lyubomir ^{[6
]}

机构：

[1] Med Univ Sofia, Dept Clin Lab & Clin Immunol, Sofia, Bulgaria

[2] Med Univ Sofia, Dept Nephrol, Sofia, Bulgaria

[3] Med Univ Sofia, Mol Med Ctr, Sofia, Bulgaria

[4] Med Univ Sofia, Dept Med Chem & Biochem, Sofia, Bulgaria

[5] Hop Drome Nord, Romans Sur Isere, France

[6] Med Univ Sofia, Dept Dermatol & Venereol, Sofia, Bulgaria

来源：

ACTA DERMATOVENEROLOGICA CROATICA | 2017年 / 25卷 / 04期

关键词：

systemic lupus erythematosus; CD247; polymorphisms; SINGLE-NUCLEOTIDE POLYMORPHISMS; ZETA-CHAIN; RECEPTOR; ASSOCIATION; CD3-ZETA; ANTIGEN; GENE; FC;

D O I：

暂无

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Decreased expression of the TCR zeta-chain has been reported in several autoimmune and inflammatory diseases. Recent evidence suggests that this deficiency may be due to polymorphisms in the CD247 gene. A total 52 patients with systemic lupus erythematosus (SLE) and 95 healthy controls of Bulgarian ethnicity were genotyped for 837C>G, rs1052230, 844A>T, and rs1052231 using a TaqMan genotyping assay. None of the two polymorphisms appeared associated with the diseases. On the other hand, we have found that the -837GG genotype and the G allele were associated with hematological disease. The -844AA genotype and the A allele appeared associated with the hematological disease as well. The -843AA genotype and the A allele were found to be associated with antinuclear antibody (ANA) tests and immunological disease. An association was found between the -837G allele and arthritis. The AG haplotype was found to be associated with hematological disease, ANA, and immunological disease. Our preliminary data confirm the previous findings that the CD247 polymorphisms are mainly associated with the clinical outcome of the disease and less with susceptibility.

引用

页码：267 / 270

页数：4

共 15 条

[1]

Baniyash M, 2013, Patent No. [WO2013050998 A1, 2013050998]

[2] Regulation of constitutive TCR internalization by the ζ-chain [J].

D'Oro, U ;

Munitic, I ;

Chacko, G ;

Karpova, T ;

McNally, J ;

Ashwell, JD .

JOURNAL OF IMMUNOLOGY, 2002, 169 (11) :6269-6278

[3] Polymorphisms in the CD3Z gene influence TCRζ expression in systemic lupus erythematosus patients and healthy controls [J].

Gorman, Claire L. ;

Russell, Andrew I. ;

Zhang, Zhuoli ;

Graham, Deborah Cunninghame ;

Cope, Andrew P. ;

Vyse, Timothy J. .

JOURNAL OF IMMUNOLOGY, 2008, 180 (02) :1060-1070

[4]

JENSEN JP, 1992, J IMMUNOL, V148, P2563

[5] COASSOCIATION OF CD3-ZETA WITH A RECEPTOR (CD16) FOR IGG FC ON HUMAN NATURAL-KILLER CELLS [J].

LANIER, LL ;

YU, G ;

PHILLIPS, JH .

NATURE, 1989, 342 (6251) :803-805

[6] Association of CD247 with systemic lupus erythematosus in Asian populations [J].

Li, R. ;

Yang, W. ;

Zhang, J. ;

Hirankarn, N. ;

Pan, H-F ;

Mok, C. C. ;

Chan, T. M. ;

Wong, R. W. S. ;

Mok, M. Y. ;

Lee, K. W. ;

Wong, S. N. ;

Leung, A. M. H. ;

Li, X-P ;

Avihingsanon, Y. ;

Lee, T. L. ;

Ho, M. H. K. ;

Lee, P. P. W. ;

Wong, W. H. S. ;

Wong, C-M ;

Ng, I. O. L. ;

Yang, J. ;

Li, P. H. ;

Zhang, Y. ;

Zhang, L. ;

Li, W. ;

Baum, L. ;

Kwan, P. ;

Rianthavorn, P. ;

Deekajorndej, T. ;

Suphapeetiporn, K. ;

Shotelersuk, V. ;

Garcia-Barcelo, M-M ;

Cherny, S. S. ;

Tam, P. K-H ;

Sham, P. C. ;

Lau, C. S. ;

Shen, N. ;

Lau, Y. L. ;

Ye, D-Q .

LUPUS, 2012, 21 (01) :75-83

[7] Genetic association of CD247 (CD3ζ) with SLE in a large-scale multiethnic study [J].

Martins, M. ;

Williams, A. H. ;

Comeau, M. ;

Marion, M. ;

Ziegler, J. T. ;

Freedman, B. I. ;

Merrill, J. T. ;

Glenn, S. B. ;

Kelly, J. A. ;

Sivils, K. M. ;

James, J. A. ;

Guthridge, J. M. ;

Alarcon-Riquelme, M. E. ;

Bae, S-C ;

Kim, J-H ;

Kim, D. ;

Anaya, J-M ;

Boackle, S. A. ;

Criswell, L. A. ;

Kimberly, R. P. ;

Alarcon, G. S. ;

Brown, E. E. ;

Vila, L. M. ;

Petri, M. A. ;

Ramsey-Goldman, R. ;

Niewold, T. B. ;

Tsao, B. P. ;

Gilkeson, G. S. ;

Kamen, D. L. ;

Jacob, C. O. ;

Stevens, A. M. ;

Gaffney, P. M. ;

Harley, J. B. ;

Langefeld, C. D. ;

Fesel, C. .

GENES AND IMMUNITY, 2015, 16 (02) :142-150

[8] IDENTIFICATION OF THE RECEPTOR FOR ANTIGEN AND MAJOR HISTOCOMPATIBILITY COMPLEX ON HUMAN INDUCER LYMPHOCYTES-T [J].

MEUER, SC ;

COOPER, DA ;

HODGDON, JC ;

HUSSEY, RE ;

FITZGERALD, KA ;

SCHLOSSMAN, SF ;

REINHERZ, EL .

SCIENCE, 1983, 222 (4629) :1239-1242

[9] Activating receptors and coreceptors involved in human natural killer cell-mediated cytolysis [J].

Moretta, A ;

Bottino, C ;

Vitale, M ;

Pende, D ;

Cantoni, C ;

Mingari, MC ;

Biassoni, R ;

Moretta, L .

ANNUAL REVIEW OF IMMUNOLOGY, 2001, 19 :197-223

[10] Composition and variation analysis of the TCR β-chain CDR3 repertoire in systemic lupus erythematosus using high-throughput sequencing [J].

Sui, Weiguo ;

Hou, Xianliang ;

Zou, Guimian ;

Che, Wenti ;

Yang, Ming ;

Zheng, Can ;

Liu, Fuhua ;

Chen, Peng ;

Wei, Xiaolian ;

Lai, Liusheng ;

Dai, Yong .

MOLECULAR IMMUNOLOGY, 2015, 67 (02) :455-464

← 1 2 →