The CTLA-4 −1661A/G and −1772T/C dimorphisms in Japanese patients with systemic sclerosis

Takeuchi, Fujio; Nakaue, Naoko; Kawasugi, Kaname; Mori, Masaki; Kuwata, Shoji; Tanimoto, Kiyoaki

doi:10.1007/s00296-006-0298-x

Cited by 17 publications

(23 citation statements)

References 7 publications

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“…Some studies (Pullmann et al 1999;Ahmed et al 2001;Fernandez-Blanco et al 2004;Torres et al 2004) show that there is a significant association of +49G, -1722C and +6230G markers to SLE. Other researchers (Matsushita et al 1999;Liu et al 2001;Hudson et al 2002;Takeuchi et al 2003) however, claim to find no association at all.…”

Section: Discussionmentioning

confidence: 96%

“…The five markers at nucleotide position +49, -318, -1661, -1722 and +6230 were genotyped by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method as previously reported in other studies (Matsushita et al 1999;Hudson et al 2002;Takeuchi et al 2003;Torres et al 2004). Generally, PCR was carried out in a volume of 15 mL containing 1X PCR buffer, 0.10 mM of dNTPs, 1.00 mM MgCl 2 , 0.7 pmol of primer, 0.07 U of Taq DNA polymerase (Promega, USA), and 70 ng of genomic DNA.…”

Section: Methodsmentioning

confidence: 99%

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Study of the CTLA-4 gene polymorphisms in systemic lupus erythematosus (SLE) samples from Malaysia

Chua¹,

Puah

Chew

et al. 2009

Annals of Human Biology

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In this study, we investigated the polymorphisms of the exon 1 (+49A/G), promoter sites (-1722T/C, -1661A/G, -318C/T), and 3'-untranslated region (3'-UTR) (+6230 A/G) of the CTLA-4 gene in systemic lupus erythematosus (SLE) affected patients. Polymerase chain reaction-restriction fragment length polymorphism was used to determine genotypes of these five markers in 130 SLE patients and 130 healthy controls. Of the five tested polymorphisms, there was no statistical significant difference between the genotypic and allelic frequencies of patients with SLE and controls. Hence, we propose that the CTLA-4 gene does not play a major role in the genetic susceptibility to the development of SLE in the Malaysian population.

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Section: Discussionmentioning

confidence: 96%

Section: Methodsmentioning

confidence: 99%

Study of the CTLA-4 gene polymorphisms in systemic lupus erythematosus (SLE) samples from Malaysia

Chua¹,

Puah

Chew

et al. 2009

Annals of Human Biology

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“…Furthermore, numerous studies have investigated the association between 318C/T and 1722T/C polymorphisms of the CTLA4 gene and SLE. However, the results are controversial (Parks et al, 2004;Takeuchi et al, 2007;Chua et al, 2010). Shojaa et al (2014a) conducted a meta-analysis on 1422 SLE cases and 1417 controls from nine published studies.…”

Section: Discussionmentioning

confidence: 99%

Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han

Hr¹,

Hs²,

Sc³

et al. 2015

Genet. Mol. Res.

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ABSTRACT. Systemic lupus erythematosus (SLE) is an autoimmune disease that results in chronic inflammation of different organ systems. Several susceptibility loci for SLE have been suggested in different populations, but the nature of the susceptibility genes has yet to be determined. The programmed cell death 1 gene (PDCD1), the cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, and the methyl-CpGbinding protein 2 gene (MECP2) are considered to be the candidate genes associated with SLE. We analyzed the role of PDCD1, CTLA4, and MECP2 gene polymorphisms in Han patients suffering from SLE. Using a casecontrol study, 263 SLE patients and 263 healthy controls were collected from Chinese Northern Han people. Genomic DNA was prepared from peripheral blood leukocytes and the genotyping was performed using a polymerase chain reaction/ligase detection reaction assay. A statistically significant difference was observed in the rs2239464 and rs2075596 polymorphisms of MECP2 between SLE subjects and controls. The GG genotype in rs2239464 and the GG genotype in rs2075596 might protect against SLE. In contrast, no such association was found in the CTLA4 or PDCD1 polymorphisms. The rs2239464 and rs2075596 polymorphisms of MECP2 might play a significant role in the development of SLE in the Northern Han of China.

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“…One study was excluded to avoid inclusion of duplicated data since the same patients and controls seemed to be reported in both studies (Torres et al 2004;Aguilar et al 2003). Therefore, 14 studies were included in our metaanalysis (Aguilar et al 2003;Ahmed et al 2001;Barreto et al 2004;Fernandez-Blanco et al 2004;Heward et al 1998Heward et al , 1999Hudson et al 2002;Lee et al 2001;Liu et al 2001;Matsushita et al 1999;Mehrian et al 1998;Pullmann Jr et al 1999;Takeuchi et al 2003;D'Alfonso et al 2000). These 14 studies encompass seven European, six Asian, and one Mexican subject collections, as summarized (Table 1).…”

Section: Studies Included In the Meta-analysismentioning

confidence: 99%

CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis

2005

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Several reports demonstrate association between variants of the cytotoxic T lymphocyte antigen-4 (CTLA-4) and autoimmune diseases. CTLA-4 may generate autoimmunity by immune dysregulation, making CTLA-4 an attractive candidate gene for systemic lupus erythematosus (SLE) susceptibility. Previous CTLA-4 association studies with SLE, however, have produced inconsistent results. We have performed a meta-analysis to better assess the purported associations. A total of 14 independent studies (to July 2004) testing association between one or more CTLA-4 polymorphisms and SLE were used in this analysis. We have compared allele and genotype frequencies at four polymorphic sites found in exon-1 (at +49), the promoter region (at -318 and -1722), and the 3' untranslated region (3'UTR) (dinucleotide repeat). We have evaluated both fixed and random effect models, depending on the presence of between-study heterogeneity. The data demonstrate that the exon-1 +49 polymorphism is significantly associated with SLE susceptibility. The overall risk, measured by odds ratio (OR), for exon-1 +49 GG genotype is 1.287 [95% confidence interval (CI)=1.031-1.562, P=0.011]. Stratification by ethnicity indicates the exon-1 +49 GG genotype is associated with SLE, at least in Asians (OR=1.293, 95% CI=1.031-1.620, P=0.026). European-derived populations have an effect of similar magnitude (OR=1.268, 95% CI=0.860-1.870, P=0.230), though not significant. Similar trends are found in allele-specific risk estimates and disease association. The OR for the exon-1 +49 risk allele (G) in Asians is 1.246 (95% CI=1.057-1.469, P=0.009), while Europeans have no evidence of allelic association (OR=0.978, 95% CI=0.833-1.148, P=0.780). In conclusion, this meta-analysis supports the CTLA-4 exon-1 +49 (A/G) polymorphism influencing the risk for developing SLE, especially in Asians.

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The CTLA-4 −1661A/G and −1772T/C dimorphisms in Japanese patients with systemic sclerosis

Cited by 17 publications

References 7 publications

Study of the CTLA-4 gene polymorphisms in systemic lupus erythematosus (SLE) samples from Malaysia

Study of the CTLA-4 gene polymorphisms in systemic lupus erythematosus (SLE) samples from Malaysia

Association between PDCD1, CTLA4, and MECP2 gene polymorphisms and systemic lupus erythematosus in the Chinese Northern Han

CTLA-4 polymorphisms and systemic lupus erythematosus (SLE): a meta-analysis

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