CTLA4 polymorphism in spanish patients with systemic lupus erythematosus

Aguilar, Francisco; Torres, Belén; Sánchez-Román, Julio; Núñez‐Roldán, Antonio; González‐Escribano, María Francisca

doi:10.1016/s0198-8859(03)00171-x

Cited by 68 publications

(77 citation statements)

References 22 publications

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“…The majority of these studies explored 2 SNPs located at positions Ϫ319 (10) and ϩ49 (11) and a short tandem repeat located within the 3Ј-UTR (12). Practically all of these studies failed to find an association between CTLA4 and SLE (16,(18)(19)(20)(21)(22) and only 2 studies reporting an association with the dimorphism located at ϩ49 have been published (23,24). Recently, a highly significant association between SLE and a biallelic polymorphism located at position Ϫ1722 within the promoter region of CTLA4 has been described in a Korean population (25), but, in a previous study, we could not confirm this association in a Spanish Caucasian population (16).…”

Section: Discussionmentioning

confidence: 99%

“…An association was observed among the haplotypes ϩ49A;CT60A and the (AT) 7 -3Ј-UTR allele, ϩ49A;CT60G and the (AT) Ͼ19 -3Ј-UTR allele, and ϩ49G;CT60G and the (AT) [8][9][10][11][12][13][14][15][16][17][18][19] -3Ј-UTR allele (Table 3).…”

Section: Association Of Ctla4 Ct60 Marker With Sle 2213mentioning

confidence: 97%

“…The present study results were combined with those previously reported by us with regard to the CTLA4 gene positions Ϫ1722, Ϫ319, and ϩ49 (16). The estimation of the frequency of the haplotypes was performed using Haploview, version 2.04 (available at the Web site: http://www.broad.mit.edu/personal/jcbarret/haplo/index.php).…”

Section: Subjectsmentioning

confidence: 98%

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Association of the CT60 marker of the CTLA4 gene with systemic lupus erythematosus

Torres¹,

Aguilar²,

Franco³

et al. 2004

Arthritis & Rheumatism

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Objective. To investigate the possible association of the CT60A/G marker with systemic lupus erythematosus (SLE) in Spanish patients, and to identify the possible CTLA4 haplotype responsible for the association, taking into account other polymorphisms described at positions ؊1722T/C, ؊319C/T, ؉49A/G, and the microsatellite (AT) n in the 3-untranslated region (3-UTR) of the CTLA4 gene.Methods. Genotyping of CT60 was performed in 395 patients with SLE and 293 healthy controls using polymerase chain reaction (PCR)-restriction fragment length polymorphism analysis. Genotyping of the rest of the dimorphisms has been previously reported. Genotyping of microsatellite polymorphism (AT) n in the 3-UTR was performed using PCR with a fluorescencelabeled primer.Results

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Section: Discussionmentioning

confidence: 99%

Section: Association Of Ctla4 Ct60 Marker With Sle 2213mentioning

confidence: 97%

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Association of the CT60 marker of the CTLA4 gene with systemic lupus erythematosus

Torres¹,

Aguilar²,

Franco³

et al. 2004

Arthritis & Rheumatism

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“…Two polymorphic sites { + 49A/ G (rs231775) and CT60A/G (rs3087243)} were identified and used for the meta-analysis. Finally, 15 references were included in this research (Heward et al, 1999;Matsushita et al, 1999;Pullmann et al, 1999;D'Alfonso et al, 2000;Ahmed et al, 2001;Lee et al, 2001;Liu et al, 2001;Hudson et al, 2002;Aguilar et al, 2003;Barreto et al, 2004;Parks et al, 2004;Torres et al, 2004;Ulker et al, 2009;Chua et al, 2010;Kimkong et al, 2011). We subdivided the group of + 49A/G (rs231775) into Asia subgroup and Europe subgroup (five studies about Europe and eight studies about Asia).…”

Section: Ctla-4 Snp and Slementioning

confidence: 99%

“…The + 49A/G (rs231775) SNP causes an amino acid change from threonine to alanine in the peptide leader sequence of the CTLA-4 protein (Chistiakov and Turakulov, 2003), whereas CT60A/G (rs3087243) is important for efficient splicing and production of soluble CTLA-4, and may play a role in mRNA stability of sCTLA-4 (Ueda et al, 2003). A number of casecontrol studies have been conducted to investigate the association of these polymorphisms with SLE (Heward et al, 1999;Matsushita et al, 1999;Pullmann et al, 1999;D'Alfonso et al, 2000;Ahmed et al, 2001;Lee et al, 2001;Liu et al, 2001;Hudson et al, 2002;Aguilar et al, 2003;Barreto et al, 2004;Parks et al, 2004;Torres et al, 2004;Ulker et al, 2009;Chua et al, 2010;Kimkong et al, 2011). However, these studies have shown inconclusive or contradictory results.…”

Section: Introductionmentioning

confidence: 99%

CTLA-4 Polymorphisms and Systemic Lupus Erythematosus: A Comprehensive Meta-Analysis

Liu

2013

Genetic Testing and Molecular Biomarkers

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Objective: The aim of this study was to determine whether the SNPs + 49A/G and CT60A/G of the CTLA-4 gene are associated with susceptibility to systemic lupus erythematosus (SLE). Methods: The comprehensive metaanalysis for + 49A/G included 1753 cases and 2279 controls, and for CT60A/G included 676 cases and 576 controls. Allelic and genotypic comparisons between cases and controls were evaluated. For + 49A/G, we also subdivided it by population. Results: For + 49A/G, statistically significant differences were not noted

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Influence of CTLA4 haplotypes on susceptibility and some extraglandular manifestations in primary Sjögren's syndrome

Downie-Doyle

Bayat

Rischmueller

et al. 2006

Arthritis & Rheumatism

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Objective. Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4) is a key negative regulator of the T cell immune response, and the CTLA4 gene is highly polymorphic. Many positive associations between CTLA4 single-nucleotide polymorphisms (SNPs) and various autoimmune diseases have been identified. Two CTLA4 SNPs that are important relative to genetic susceptibility in human autoimmune diseases are the ؉49GA polymorphism in exon 1 and the CT60A/G polymorphism in the 3-untranslated region. Using these 2 polymorphisms as markers, we investigated possible genetic associations of CTLA4 in Australian patients with primary Sjögren's syndrome.Methods. One hundred eleven Australian Caucasian patients with primary SS and 156 population-based controls were genotyped for CTLA4 by polymerase chain reaction-restriction fragment length polymorphism methods, using the restriction enzymes BseXI (؉49G/A) and HpyCh4 IV (CT60).Results. The CT60 and ؉49G/A SNPs were in strong linkage disequilibrium, and only 3 haplotypes were observed. Significant differences in the haplotype frequencies between patients with primary SS and controls (P ‫؍‬ 0.032) were observed, with susceptibility to primary SS associated with both the ؉49A;CT60A haplotype and the ؉49A;CT60G haplotype, whereas the ؉49G;CT60G haplotype was protective against primary SS. The ؉49A;CT60G haplotype association was predominantly with Ro/La autoantibody-positive primary SS, and the dose of this haplotype influenced the severity of daytime sleepiness (P ‫؍‬ 0.036). The ؉49A; CT60A haplotype appeared to be protective against the development of Raynaud's phenomenon in patients with primary SS (odds ratio 0.49, 95% confidence interval 0.27-0.91).Conclusion. The CTLA4 ؉49G/A and CT60 haplotypes are associated with susceptibility to primary SS and with some extraglandular manifestations of the disease.

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CTLA4 polymorphism in spanish patients with systemic lupus erythematosus

Cited by 68 publications

References 22 publications

Association of the CT60 marker of the CTLA4 gene with systemic lupus erythematosus

Association of the CT60 marker of the CTLA4 gene with systemic lupus erythematosus

CTLA-4 Polymorphisms and Systemic Lupus Erythematosus: A Comprehensive Meta-Analysis

Influence of CTLA4 haplotypes on susceptibility and some extraglandular manifestations in primary Sjögren's syndrome

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