Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on medication adherence

LIVE: Thursday 27th June 2024, 18:00-19:30 (CEST)
Join our expert panel to discover why you need to understand the drivers of non-adherence in your patients, and how you can optimize medication adherence in your clinics to drastically improve patient outcomes.
ADVANCED SEARCH
Log in
Top
BMC Medical Genetics
Published in: BMC Medical Genetics 1/2006

Open Access 01-12-2006 | Research article

Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus

Authors: Elena Sánchez, José M Sabio, José L Callejas, Enrique de Ramón, Rosa Garcia-Portales, Francisco J García-Hernández, Juan Jiménez-Alonso, Ma Francisca González-Escribano, Javier Martín, Bobby P Koeleman

Published in: BMC Medical Genetics | Issue 1/2006

Login to get access

Abstract

Background

Several lines of evidence suggest that chemokines and cytokines play an important role in the inflammatory development and progression of systemic lupus erythematosus. The aim of this study was to evaluate the relevance of functional genetic variations of RANTES, IL-8, IL-1α, and MCP-1 for systemic lupus erythematosus.

Methods

The study was conducted on 500 SLE patients and 481 ethnically matched healthy controls. Genotyping of polymorphisms in the RANTES, IL-8, IL-1α, and MCP-1 genes were performed using a real-time polymerase chain reaction (PCR) system with pre-developed TaqMan allelic discrimination assay.

Results

No significant differences between SLE patients and healthy controls were observed when comparing genotype, allele or haplotype frequencies of the RANTES, IL-8, IL-1α, and MCP-1 polymorphisms. In addition, no evidence for association with clinical sub-features of SLE was found.

Conclusion

These results suggest that the tested functional variation of RANTES, IL-8, IL-1α, and MCP-1 genes do not confer a relevant role in the susceptibility or severity of SLE in the Spanish population.
Literature
1.
Wakeland EK, Liu K, Graham RR, Behrens TW: Delineating the genetic basis of systemic lupus erythematosus. Immunity. 2001, 15 (3): 397-408. 10.1016/S1074-7613(01)00201-1.CrossRefPubMed
2.
Cantor RM, Yuan J, Napier S, Kono N, Grossman JM, Hahn BH, Tsao BP: Systemic lupus erythematosus genome scan: support for linkage at 1q23, 2q33, 16q12-13, and 17q21-23 and novel evidence at 3p24, 10q23-24, 13q32, and 18q22-23. Arthritis Rheum. 2004, 50 (10): 3203-3210. 10.1002/art.20511.CrossRefPubMed
3.
Tucci M, Barnes EV, Sobel ES, Croker BP, Segal MS, Reeves WH, Richards HB: Strong association of a functional polymorphism in the monocyte chemoattractant protein 1 promoter gene with lupus nephritis. Arthritis Rheum. 2004, 50 (6): 1842-1849. 10.1002/art.20266.CrossRefPubMed
4.
Prokunina L, Alarcon-Riquelme M: The genetic basis of systemic lupus erythematosus--knowledge of today and thoughts for tomorrow. Hum Mol Genet. 2004, 13 Spec No 1: R143-8. 10.1093/hmg/ddh076.CrossRefPubMed
5.
Kim HL, Lee DS, Yang SH, Lim CS, Chung JH, Kim S, Lee JS, Kim YS: The polymorphism of monocyte chemoattractant protein-1 is associated with the renal disease of SLE. Am J Kidney Dis. 2002, 40 (6): 1146-1152. 10.1053/ajkd.2002.36858.CrossRefPubMed
6.
Gibson AW, Edberg JC, Wu J, Westendorp RG, Huizinga TW, Kimberly RP: Novel single nucleotide polymorphisms in the distal IL-10 promoter affect IL-10 production and enhance the risk of systemic lupus erythematosus. J Immunol. 2001, 166 (6): 3915-3922.CrossRefPubMed
7.
Mehrian R, Quismorio FPJ, Strassmann G, Stimmler MM, Horwitz DA, Kitridou RC, Gauderman WJ, Morrison J, Brautbar C, Jacob CO: Synergistic effect between IL-10 and bcl-2 genotypes in determining susceptibility to systemic lupus erythematosus. Arthritis Rheum. 1998, 41 (4): 596-602. 10.1002/1529-0131(199804)41:4<596::AID-ART6>3.0.CO;2-2.CrossRefPubMed
8.
Andersen LS, Petersen J, Svenson M, Bendtzen K: Production of IL-1beta, IL-1 receptor antagonist and IL-10 by mononuclear cells from patients with SLE. Autoimmunity. 1999, 30 (4): 235-242.CrossRefPubMed
9.
Lit LC, Wong CK, Tam LS, Li EK, Lam CW: Raised plasma concentration and ex vivo production of inflammatory chemokines in patients with systemic lupus erythematosus. Ann Rheum Dis. 2006, 65 (2): 209-215. 10.1136/ard.2005.038315.CrossRefPubMed
10.
Aoki M, Pawankar R, Niimi Y, Kawana S: Mast cells in basal cell carcinoma express VEGF, IL-8 and RANTES. Int Arch Allergy Immunol. 2003, 130 (3): 216-223. 10.1159/000069515.CrossRefPubMed
11.
Tesch GH, Schwarting A, Kinoshita K, Lan HY, Rollins BJ, Kelley VR: Monocyte chemoattractant protein-1 promotes macrophage-mediated tubular injury, but not glomerular injury, in nephrotoxic serum nephritis. J Clin Invest. 1999, 103 (1): 73-80.CrossRefPubMedPubMedCentral
12.
Rovin BH, Phan LT: Chemotactic factors and renal inflammation. Am J Kidney Dis. 1998, 31 (6): 1065-1084.CrossRefPubMed
13.
Kelley VR, Rovin BH: Chemokines: therapeutic targets for autoimmune and inflammatory renal disease. Springer Semin Immunopathol. 2003, 24 (4): 411-421. 10.1007/s00281-003-0124-4.CrossRefPubMed
14.
Rovin BH, Song H, Birmingham DJ, Hebert LA, Yu CY, Nagaraja HN: Urine chemokines as biomarkers of human systemic lupus erythematosus activity. J Am Soc Nephrol. 2005, 16 (2): 467-473. 10.1681/ASN.2004080658.CrossRefPubMed
15.
Liu H, Chao D, Nakayama EE, Taguchi H, Goto M, Xin X, Takamatsu JK, Saito H, Ishikawa Y, Akaza T, Juji T, Takebe Y, Ohishi T, Fukutake K, Maruyama Y, Yashiki S, Sonoda S, Nakamura T, Nagai Y, Iwamoto A, Shioda T: Polymorphism in RANTES chemokine promoter affects HIV-1 disease progression. Proc Natl Acad Sci U S A. 1999, 96 (8): 4581-4585. 10.1073/pnas.96.8.4581.CrossRefPubMedPubMedCentral
16.
Rovin BH, Lu L, Zhang X: A novel interleukin-8 polymorphism is associated with severe systemic lupus erythematosus nephritis. Kidney Int. 2002, 62 (1): 261-265. 10.1046/j.1523-1755.2002.00438.x.CrossRefPubMed
17.
Rovin BH, Lu L, Saxena R: A novel polymorphism in the MCP-1 gene regulatory region that influences MCP-1 expression. Biochem Biophys Res Commun. 1999, 259 (2): 344-348. 10.1006/bbrc.1999.0796.CrossRefPubMed
18.
Dominici R, Cattaneo M, Malferrari G, Archi D, Mariani C, Grimaldi LM, Biunno I: Cloning and functional analysis of the allelic polymorphism in the transcription regulatory region of interleukin-1 alpha. Immunogenetics. 2002, 54 (2): 82-86. 10.1007/s00251-002-0445-9.CrossRefPubMed
19.
Hochberg MC: Updating the American College of Rheumatology revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1997, 40 (9): 1725-CrossRefPubMed
20.
Dudbridge F: Pedigree disequilibrium tests for multilocus haplotypes. Genet Epidemiol. 2003, 25 (2): 115-121. 10.1002/gepi.10252.CrossRefPubMed
21.
Wang CR, Guo HR, Liu MF: RANTES promoter polymorphism as a genetic risk factor for rheumatoid arthritis in the Chinese. Clin Exp Rheumatol. 2005, 23 (3): 379-384.PubMed
22.
Liao CH, Yao TC, Chung HT, See LC, Kuo ML, Huang JL: Polymorphisms in the promoter region of RANTES and the regulatory region of monocyte chemoattractant protein-1 among Chinese children with systemic lupus erythematosus. J Rheumatol. 2004, 31 (10): 2062-2067.PubMed
23.
Ye DQ, Yang SG, Li XP, Hu YS, Yin J, Zhang GQ, Liu HH, Wang Q, Zhang KC, Dong MX, Zhang XJ: Polymorphisms in the promoter region of RANTES in Han Chinese and their relationship with systemic lupus erythematosus. Arch Dermatol Res. 2005, 297 (3): 108-113. 10.1007/s00403-005-0581-9.CrossRefPubMed
24.
Makki RF, al Sharif F, Gonzalez-Gay MA, Garcia-Porrua C, Ollier WE, Hajeer AH: RANTES gene polymorphism in polymyalgia rheumatica, giant cell arteritis and rheumatoid arthritis. Clin Exp Rheumatol. 2000, 18 (3): 391-393.PubMed
25.
Chen RH, Chen WC, Wang TY, Tsai CH, Tsai FJ: Lack of association between pro-inflammatory cytokine (IL-6, IL-8 and TNF-alpha) gene polymorphisms and Graves' disease. Int J Immunogenet. 2005, 32 (6): 343-347. 10.1111/j.1744-313X.2005.00536.x.CrossRefPubMed
26.
Sciacca FL, Ferri C, Veglia F, Andreetta F, Mantegazza R, Cornelio F, Franciotta D, Piccolo G, Cosi V, Batocchi AP, Evoli A, Grimaldi LM: IL-1 genes in myasthenia gravis: IL-1A -889 polymorphism associated with sex and age of disease onset. J Neuroimmunol. 2002, 122 (1-2): 94-99. 10.1016/S0165-5728(01)00449-0.CrossRefPubMed
27.
Yang B, Houlberg K, Millward A, Demaine A: Polymorphisms of chemokine and chemokine receptor genes in Type 1 diabetes mellitus and its complications. Cytokine. 2004, 26 (3): 114-121. 10.1016/j.cyto.2004.01.005.CrossRefPubMed
28.
McDermott DH, Beecroft MJ, Kleeberger CA, Al-Sharif FM, Ollier WE, Zimmerman PA, Boatin BA, Leitman SF, Detels R, Hajeer AH, Murphy PM: Chemokine RANTES promoter polymorphism affects risk of both HIV infection and disease progression in the Multicenter AIDS Cohort Study. Aids. 2000, 14 (17): 2671-2678. 10.1097/00002030-200012010-00006.CrossRefPubMed
29.
Renzoni E, Lympany P, Sestini P, Pantelidis P, Wells A, Black C, Welsh K, Bunn C, Knight C, Foley P, du Bois RM: Distribution of novel polymorphisms of the interleukin-8 and CXC receptor 1 and 2 genes in systemic sclerosis and cryptogenic fibrosing alveolitis. Arthritis Rheum. 2000, 43 (7): 1633-1640. 10.1002/1529-0131(200007)43:7<1633::AID-ANR29>3.0.CO;2-9.CrossRefPubMed
30.
Parks CG, Cooper GS, Dooley MA, Treadwell EL, St Clair EW, Gilkeson GS, Pandey JP: Systemic lupus erythematosus and genetic variation in the interleukin 1 gene cluster: a population based study in the southeastern United States. Ann Rheum Dis. 2004, 63 (1): 91-94. 10.1136/ard.2003.007336.CrossRefPubMedPubMedCentral
31.
Huerta C, Alvarez V, Mata IF, Coto E, Ribacoba R, Martinez C, Blazquez M, Guisasola LM, Salvador C, Lahoz CH, Pena J: Chemokines (RANTES and MCP-1) and chemokine-receptors (CCR2 and CCR5) gene polymorphisms in Alzheimer's and Parkinson's disease. Neurosci Lett. 2004, 370 (2-3): 151-154. 10.1016/j.neulet.2004.08.016.CrossRefPubMed
32.
Aguilar F, Gonzalez-Escribano MF, Sanchez-Roman J, Nunez-Roldan A: MCP-1 promoter polymorphism in Spanish patients with systemic lupus erythematosus. Tissue Antigens. 2001, 58 (5): 335-338. 10.1034/j.1399-0039.2001.580508.x.CrossRefPubMed
33.
Ioannidis JP, Ntzani EE, Trikalinos TA, Contopoulos-Ioannidis DG: Replication validity of genetic association studies. Nat Genet. 2001, 29 (3): 306-309. 10.1038/ng749.CrossRefPubMed
Metadata
Title
Association study of genetic variants of pro-inflammatory chemokine and cytokine genes in systemic lupus erythematosus
Authors
Elena Sánchez
José M Sabio
José L Callejas
Enrique de Ramón
Rosa Garcia-Portales
Francisco J García-Hernández
Juan Jiménez-Alonso
Ma Francisca González-Escribano
Javier Martín
Bobby P Koeleman
Publication date
01-12-2006
Publisher
BioMed Central
Published in
BMC Medical Genetics / Issue 1/2006
Electronic ISSN: 1471-2350
DOI
https://doi.org/10.1186/1471-2350-7-48

Other articles of this Issue 1/2006

BMC Medical Genetics 1/2006 Go to the issue

Research article

Analysis of the XRCC1 gene as a modifier of the cerebral response in ischemic stroke

Case report

Familial deletion 18p syndrome: case report

Research article

A study of the relationships between KLF2polymorphisms and body weight control in a French population

Correspondence

Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis

Research article

Frequency of common HFEvariants in the Saudi population: a high throughput molecular beacon-based study

Research article

A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload