RGD Reference Report - CD40 Gene polymorphisms associated with susceptibility and coronary artery lesions of Kawasaki disease in the Taiwanese population. - Rat Genome Database

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CD40 Gene polymorphisms associated with susceptibility and coronary artery lesions of Kawasaki disease in the Taiwanese population.

Authors: Kuo, HC  Chao, MC  Hsu, YW  Lin, YC  Huang, YH  Yu, HR  Hou, MF  Liang, CD  Yang, KD  Chang, WC  Wang, CL 
Citation: Kuo HC, etal., ScientificWorldJournal. 2012;2012:520865. doi: 10.1100/2012/520865. Epub 2012 May 2.
RGD ID: 8547776
Pubmed: PMID:22645426   (View Abstract at PubMed)
PMCID: PMC3354684   (View Article at PubMed Central)
DOI: DOI:10.1100/2012/520865   (Journal Full-text)

BACKGROUND: Kawasaki disease (KD) is characterized by systemic vasculitis of unknown etiology. Our previous studies showed expression of CD40 ligand on CD4+ T cells correlated to the coronary artery lesion (CAL) and disease progress in KD. Other studies from Japan suggested the role of CD40L in the pathogenesis of CAL, and this might help explain the excessive number of males affected with KD but cannot be reproduced by Taiwanese population. This study was conducted to investigate the CD40 polymorphism in KD and CAL formation. METHODS: A total of 950 subjects (381 KD patients and 569 controls) were investigated to identify 2 tagging single-nucleotide polymorphisms (tSNPs) of CD40 (rs4810485 and rs1535045) by using the TaqMan allelic discrimination assay. RESULTS: A significant association was noted with regards to CD40 tSNPs (rs1535045) between controls and KD patients (P = 0.0405, dominant model). In KD patients, polymorphisms of CD40 (rs4810485) showed significant association with CAL formation (P = 0.0436, recessive model). Haplotype analysis did not yield more significant results between polymorphisms of CD40 and susceptibility/disease activity of KD. CONCLUSIONS: This study showed for the first time that polymorphisms of CD40 are associated with susceptibility to KD and CAL formation, in the Taiwanese population.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CD40LGHumancoronary artery disease  IAGP associated with Mucocutaneous Lymph Node Syndrome and DNA:SNP: :rs4810485 (human)RGD 
Cd40lgRatcoronary artery disease  ISOCD40LG (Homo sapiens)associated with Mucocutaneous Lymph Node Syndrome and DNA:SNP: :rs4810485 (human)RGD 
Cd40lgMousecoronary artery disease  ISOCD40LG (Homo sapiens)associated with Mucocutaneous Lymph Node Syndrome and DNA:SNP: :rs4810485 (human)RGD 
CD40HumanKawasaki disease susceptibilityIAGP DNA:SNP:intron:c.51+1066C>T and (rs1535045) (human)RGD 
Cd40RatKawasaki disease susceptibilityISOCD40 (Homo sapiens)DNA:SNP:intron:c.51+1066C>T and (rs1535045) (human)RGD 
Cd40MouseKawasaki disease susceptibilityISOCD40 (Homo sapiens)DNA:SNP:intron:c.51+1066C>T and (rs1535045) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CD40HumanFever  IAGP DNA:SNP:intron:c.51+1066C>T and (rs1535045)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Cd40  (CD40 molecule)
Cd40lg  (CD40 ligand)

Genes (Mus musculus)
Cd40  (CD40 antigen)
Cd40lg  (CD40 ligand)

Genes (Homo sapiens)
CD40  (CD40 molecule)
CD40LG  (CD40 ligand)


Additional Information