CTLA4 promoter and exon 1 dimorphisms in multiple sclerosiso

Hf, Harbo; Eg, Celius; Vartdal, Frode; Spurkland, Anne

doi:10.1034/j.1399-0039.1999.530112.x

Cited by 142 publications

(12 citation statements)

References 21 publications

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“…Over 100 single-nucleotide polymorphisms (SNPs) have been identified in CTLA-4 gene regions, and some of these SNPs were found to be related to immune-mediated diseases including type 1 diabetes mellitus [[45]], multiple sclerosis [[46]], systemic lupus erythematosus (SLE) [[47]], rheumatoid arthritis [[48],[49]], Hashimoto's thyroiditis, and Graves' disease [[45]]. However, some of the studies showed conflicting results in the association of CTLA-4 gene polymorphisms and autoimmune diseases [[50]-[52]].…”

Section: Reviewmentioning

confidence: 99%

Influence of molecular genetics in Vogt-Koyanagi-Harada disease

Luk

Lai

et al. 2014

J Ophthal Inflamm Infect

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Vogt-Koyanagi-Harada (VKH) disease is a systemic autoimmune disorder against melanocytes. Recent studies have identified multiple genetic factors that might be associated with the pathogenesis of VKH disease. We performed an electronic database search of PubMed, MEDLINE, and EMBASE, and all relevant papers published up to 13 June 2014 were reviewed. A total of 1,031 publications including articles relevant to the genetics of VKH disease and the references of these articles were reviewed. The review identified a number of genetic factors which might be involved in the pathogenesis of VKH disease, some of which may alter the clinical course of VKH disease. Genes which might be involved in the pathogenesis of VKH disease included genes expressing HLA, complement factor H, interleukins, cytotoxic T-lymphocyte antigen 4 (CTLA-4), killer cell immunoglobulin-like receptors (KIR), programmed cell death 1 (PDCD1), protein tyrosine phosphatase non-receptor 22 (PTPN22), osteopontin, tumor necrosis factor alpha-induced protein 3 (TNFAIP3), macrophage migration inhibitory factor (MIF), and other immune response genes. Further studies to explore the correlation among different genotypes and phenotypes of VKH disease will be useful to shed light on the pathogenesis of uveitis in VKH disease and may facilitate the development of new treatment modalities of uveitis in VKH disease.

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Section: Reviewmentioning

confidence: 99%

Influence of molecular genetics in Vogt-Koyanagi-Harada disease

Luk

Lai

et al. 2014

J Ophthal Inflamm Infect

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“…The last elongation step was extended to 5 min. Phenotyping of three SNPs, two in the 900 bp fragment and one in the 481 bp fragment of the CTLA-4 gene, were made using the RFLP technique (for conditions see table 1) as described by Harbo et al [12] and Howard et al [26]. All digested products were electrophoresed on 2% agarose gel.…”

Section: Methodsmentioning

confidence: 99%

“…DNA was extracted from blood leukocytes on an Invisorb Spin Mini-Kit following the manufacturer’s instructions (Invitek). Two fragments of the CTLA-4 gene were amplified in a T3 thermal cycler (Biometra, Germany) using two pairs of primers [12, 26]. The forward primer 5′ TCT TTT CCg CCT ATT TTC AgT T 3′ and reverse primer 5′ CCC Tgg AAT ACA gAg CCA Gc 3′ gave a product of 900 bp encompassing two single nucleotide polymorphisms (SNPs), –318 C→T (rs5742909) and +49 A→G (rs231775).…”

Section: Methodsmentioning

confidence: 99%

“…It is not surprising, therefore, that polymorphisms of the CTLA-4 gene were found to be associated with several autoimmune diseases [1, 5] such as autoimmune thyroid diseases [6,7,8,9], insulin-dependent diabetes mellitus [10, 11], multiple sclerosis [12,13,14], and celiac disease [15,16,17]. Allergic diseases are characterized by a defective peripheral T cell tolerance to allergens, suggestive of possible CTLA-4 dysfunction [18, 19].…”

Section: Introductionmentioning

confidence: 99%

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Distribution of <i>CTLA-4 </i>Polymorphisms in Allergic Asthma

Jasek

Luszczek

Obojski

et al. 2006

Int Arch Allergy Immunol

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Background: The CTLA-4 molecule is an important negative regulator of T cell activation. It is encoded on chromosome 2q33 and found to be associated with several allergic phenotypes including asthma. However, the association of CTLA-4 gene polymorphisms with allergic asthma is still controversial and therefore was the subject of this study. Methods: By PCR-RFLP, the distribution of three single nucleotide polymorphisms (SNPs), –1147 C/T, –318 C/T, and +49 A/G, was examined in 219 Polish Caucasoid patients diagnosed with allergic asthma and in 102 ethnically matched healthy control individuals. (AT)_n microsatellite polymorphism was also tested in the same individuals. Results:No statistically significant differences in SNPs or microsatellite allele, genotype or haplotype frequencies between patients and controls were found. Conclusion:CTLA-4 polymorphisms do not seem to be a risk factor for allergic asthma in Poles.

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“…At least three genetic polymorphisms have been reported in the human CTLA-4 gene: one in the promoter region at position −318 consisting of a C/T transition,[15] a second in position +49 of exon 1 that lies in an A/G transition resulting in a threonine (Thr) or alanine (Ala) dimorphism,[16] and a third in the 3’ untranslated region with variable lengths of a dinucleotide (AT)n repeat. [17] Several studies have shown an association between an A/G single nucleotide polymorphism (SNP) in exon 1, position +49 of the CTLA-4 gene, and autoimmune diseases such as type 1 diabetes,[18–20] multiple sclerosis,[21] Grave's disease,[22] HLA-DR4-rheumatoid arthritis,[23] and celiac disease. [24] However, studies on the polymorphisms of the CTLA-4 gene in IBD have shown conflicting results in different populations.…”

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confidence: 99%

Association between CTLA-4 gene promoter (49 A/G) in exon 1 polymorphisms and inflammatory bowel disease in the Tunisian population

Alaya

Sfar

Aouadi

et al. 2009

Saudi J Gastroenterol

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Background/Aim:To investigate the possible association between the polymorphism of the CTLA-4 exon 1 +49 A/G and susceptibility to Crohn's disease (CD) and ulcerative colitis (UC) in the Tunisian population.Methods:The +49 A/G dimorphism was analyzed in 119 patients with CD, 65 patients with UC, and 100 controls by the polymerase chain reaction–restriction fragment length polymorphism method.Results:Significantly higher frequencies of the CTLA-4 +49A allele and A/A homozygous individuals were observed in patients with CD when compared with controls (pc = 0.0023 and pc = 0.0003, respectively). Analysis of CTLA-4 A/G polymorphism with respect to sex in CD showed a significant difference in A/A genotypes between female patients and controls (pc = 0.0001 and pc = 0.038, respectively). There were no differences in the subgroups of patients with CD.Conclusions:Forty-nine A alleles and AA genotype are associated with CD susceptibility in Tunisians. Other genes involved in the T-cell regulation remain strong candidates for IBD susceptibility and require further investigation.

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CTLA4 promoter and exon 1 dimorphisms in multiple sclerosiso

Cited by 142 publications

References 21 publications

Influence of molecular genetics in Vogt-Koyanagi-Harada disease

Influence of molecular genetics in Vogt-Koyanagi-Harada disease

Distribution of <i>CTLA-4 </i>Polymorphisms in Allergic Asthma

Association between CTLA-4 gene promoter (49 A/G) in exon 1 polymorphisms and inflammatory bowel disease in the Tunisian population

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