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A CD40 Kozak sequence polymorphism and susceptibility to antibody-mediated autoimmune conditions: the role of CD40 tissue-specific expression.

Genes and immunity - 1 Apr 2007

Jacobson E M, Huber A K, Akeno N, Sivak M, Li C W, Concepcion E, Ho K, Tomer Y

Abstract excerpt

Previously, we and others have demonstrated the association of a C/T single nucleotide polymorphism (SNP), in the Kozak sequence of CD40, with Graves' disease (GD). Here, using an expanded data set of patients, we confirm the association of the CD40 SNP with GD (n=210, P=0.002, odds ratio (OR)=1....

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PMID: 17344890
DOI: 10.1038/sj.gene.6364375

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17344890-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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A CD40 Kozak sequence polymorphism and susceptibility to antibody-mediated autoimmune conditions: the role of CD40 tissue-specific expression.PMID 17344890Read ↗

Role of the CD40 locus in Graves' disease.Semantic proximity Read ↗

Precision Medicine in Graves' Disease: CD40 Gene Variants Predict Clinical Response to an Anti-CD40 Monoclonal Antibody.Semantic proximity Read ↗

Compelling Evidence Linking CD40 Gene With Graves' Disease in the Chinese Han Population.Semantic proximity Read ↗

A C/T polymorphism in the 5' untranslated region of the CD40 gene is associated with later onset of Graves' disease in Japanese.Semantic proximity Read ↗

A C/T single-nucleotide polymorphism in the region of the CD40 gene is associated with Graves' disease.Semantic proximity Read ↗

A single nucleotide polymorphism in the CD40 gene on chromosome 20q (GD-2) provides no evidence for susceptibility to Graves' disease in UK Caucasians.Semantic proximity Read ↗

A Graves' disease-associated Kozak sequence single-nucleotide polymorphism enhances the efficiency of CD40 gene translation: a case for translational pathophysiology.Semantic proximity Read ↗

Association of a C/T single-nucleotide polymorphism in the 5' untranslated region of the CD40 gene with Graves' disease in Japanese.Semantic proximity Read ↗

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CTLA-4 gene polymorphism at position 49 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves' disease.Semantic proximity Read ↗

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