RGD Reference Report - STAT2*C related genotypes and allele but not TLR4 and CD40 gene polymorphisms are associated with higher susceptibility for asthma. - Rat Genome Database

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STAT2*C related genotypes and allele but not TLR4 and CD40 gene polymorphisms are associated with higher susceptibility for asthma.

Authors: Hsieh, YY  Wan, L  Chang, CC  Tsai, CH  Tsai, FJ 
Citation: Hsieh YY, etal., Int J Biol Sci. 2009;5(1):74-81. Epub 2009 Jan 9.
RGD ID: 4144188
Pubmed: PMID:19159017   (View Abstract at PubMed)
PMCID: PMC2615545   (View Article at PubMed Central)

OBJECTIVE: Asthma is caused by a complex interaction between multiple genes and environmental factors. Herein we aimed to investigate whether signal transducer and activator of transcription (STAT2), toll-like receptors 4 (TLRs4) and CD40-related polymorphisms are associated with asthma susceptibility. DESIGN: Children were divided: (1) asthma (n=117); (2) normal controls (n=60). The polymorphisms of STAT2, TLR4 and CD40 polymorphism were analyzed by PCR-RFLP genotyping. Genotypes, allelic frequencies and association of haplotypes in both groups were compared. RESULTS: STAT2*C related genotypes, but not TLR4 and CD40 polymorphism, are associated with higher susceptibility for asthma. Distributions of STAT2*CC/CG/GG and C/G allele in both groups are: (1) 0/11.1/88.9 % and 5.6/94.4%; (2) 0/1.7/98.3% and 0.8/99.2% (p<0.05). Proportions of TLR4*rs10983755 AA/AG/GG and rs1927914 CC/CT/TT homozygote are: (1) 35.1/8.5/56.4% and 9.4/56.4/34.2%; (2) 35/8.3/56.7% and 16.7/48.3/35% (non-difference). Proportions of CD40*rs1883832 CC/CT/TT, rs3765459 AA/AG/GG, and rs4810485 TT/GT/GG are: (1) 29.9/53/17.1%, 6.8/47.9/45.3 and 18.8/62.4/18.8%; (2) 36.7/41.7/21.6%, 1.6/46.7/ 51.7 and 15/51.7/33.3% (non-difference). Haplotype analyses for TLR4 and CD40 genes revealed their non-association and non-additional effect upon asthma susceptibilities. CONCLUSION: STAT2*C related genotypes and alleles are associated with asthma susceptibilities and pathogenesis. There were non-association and non-additional effects of TLR4/CD40 gene polymorphisms and haplotypes upon asthma risk.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
asthma  IAGP 4144188 RGD 
asthma  ISOCD40 (Homo sapiens)4144188; 4144188 RGD 
asthma no_associationIAGP 4144188DNA:SNPs: :rs10983755 and rs1927914 (human) RGD 
asthma no_associationISOTLR4 (Homo sapiens)4144188; 4144188DNA:SNPs: :rs10983755 and rs1927914 (human) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cd40  (CD40 molecule)
Tlr4  (toll-like receptor 4)

Genes (Mus musculus)
Cd40  (CD40 antigen)
Tlr4  (toll-like receptor 4)

Genes (Homo sapiens)
CD40  (CD40 molecule)
TLR4  (toll like receptor 4)


Additional Information