Association of a C/T Single-Nucleotide Polymorphism in the 5' Untranslated Region of the CD40 Gene with Graves' Disease in Japanese

Thyroid ◽  
2006 ◽  
Vol 16 (5) ◽  
pp. 443-446 ◽  
Author(s):  
Yoshiyuki Ban ◽  
Teruaki Tozaki ◽  
Matsuo Taniyama ◽  
Motowo Tomita ◽  
Yoshio Ban
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Untranslated Region ◽  
Graves Disease ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cd40 Gene

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

2004 ◽  
Vol 61 (2) ◽  
pp. 269-272 ◽  
Author(s):  
Joanne M. Heward ◽  
Matthew J. Simmonds ◽  
Jackie Carr-Smith ◽  
Helen Foxall ◽  
Jayne A. Franklyn ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Graves Disease ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Cd40 Gene

scholarly journals A Graves’ Disease-Associated Kozak Sequence Single-Nucleotide Polymorphism Enhances the Efficiency of CD40 Gene Translation: A Case for Translational Pathophysiology

Endocrinology ◽  
2005 ◽  
Vol 146 (6) ◽  
pp. 2684-2691 ◽  
Author(s):  
Eric M. Jacobson ◽  
Erlinda Concepcion ◽  
Taiji Oashi ◽  
Yaron Tomer
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Translation System ◽  
Graves Disease ◽  
Mrna Levels ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Kozak Sequence ◽  
Cd40 Gene ◽  
Cd40 Expression

Abstract We analyzed the mechanism by which a Graves’ disease-associated C/T polymorphism in the Kozak sequence of CD40 affects CD40 expression. CD40 expression levels on B cells in individuals with CT and TT genotypes were decreased by 13.3 and 39.4%, respectively, compared with the levels in CC genotypes (P = 0.012). Similarly, Rat-2 fibroblasts transfected with T-allele cDNA expressed 32.2% less CD40 compared with their C-allele-transfected counterparts (P = 0.004). Additionally, an in vitro transcription/translation system showed that the T-allele makes 15.5% less CD40 than the C-allele (P < 0.001), demonstrating that the effect of the single-nucleotide polymorphism (SNP) on CD40 expression is at the level of translation. However, the SNP did not affect transcription, because the mRNA levels of CD40, as measured by quantitative RT-PCR, were independent of genotype. Therefore, our results may suggest that the C allele of the CD40 Kozak SNP, which is associated with Graves’ disease, could predispose to disease by increasing the efficiency of translation of CD40 mRNA.

scholarly journals Thyroid papillary carcinoma: preliminary evidence for a germ-line single nucleotide polymorphism in the Fas gene

2004 ◽  
Vol 182 (3) ◽  
pp. 479-484 ◽  
Author(s):  
F Basolo ◽  
R Giannini ◽  
P Faviana ◽  
G Fontanini ◽  
A Patricelli Malizia ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphism ◽  
Germ Line ◽  
Thyroid Tissue ◽  
Preliminary Evidence ◽  
Graves Disease ◽  
Nucleotide Polymorphism ◽  
Single Strand Conformational Polymorphism ◽  
Single Nucleotide ◽  
N 93 ◽  
Immunohistochemical Studies

The expression of Fas in thyroid tumours and Graves' disease was analysed by mRNA transcript expression. As compared with unaffected thyroid tissue, Fas expression was enhanced in Graves' disease, adenomas, and papillary and follicular carcinomas. This pattern was also reflected in immunohistochemical studies. The PCR single-strand conformational polymorphism (SSCP) method and DNA sequencing were used to analyse Fas exons 1-9. The study was carried out on five different histotypes of thyroid tumours (n=93) and tissue from Graves' disease patients. As compared with a group of healthy blood donors (n=64), a significant association (P=0.006) emerged between papillary thyroid carcinoma and a silent single nucleotide polymorphism (SNP, 988C-->T) in exon 7 of the Fas gene. Other forms of thyroid pathology were not associated with the above polymorphism. Patients with neoplasia showed the same SNP in tumour tissue, in the unaffected contralateral thyroid lobe, and in peripheral blood cells. Thus, the 988C-->T polymorphism appeared to be of germ-line origin.

Single nucleotide polymorphism in prohibitin 3′untranslated region and breast-cancer susceptibility

The Lancet ◽  
2001 ◽  
Vol 357 (9268) ◽  
pp. 1588-1589 ◽  
Author(s):  
Eldon R Jupe ◽  
Allen A Badgett ◽  
Barbara R Neas ◽  
Melissa A Craft ◽  
Debra S Mitchell ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Single Nucleotide Polymorphism ◽  
Untranslated Region ◽  
Cancer Susceptibility ◽  
Breast Cancer Susceptibility ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide
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