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

Abstract

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.

• Authors: Yao-Yuan Hsieh, Lei Wan, Chi-Chen Chang, Chang-Hai Tsai, Fuu-Jen Tsai
• Journal: International journal of biological sciences (Int J Biol Sci) Vol. 5 Issue 1 Pg. 74-81 ( 2009) ISSN: 1449-2288 [Electronic] Australia
• PMID: 19159017 (Publication Type: Journal Article)

Chemical References

• CD40 Antigens
• STAT2 Transcription Factor
• STAT2 protein, human
• TLR4 protein, human
• Toll-Like Receptor 4

Topics

• Adolescent
• Alleles
• Asthma (genetics)
• CD40 Antigens (genetics)
• Child
• Child, Preschool
• Gene Frequency
• Genetic Predisposition to Disease (genetics)
• Genotype
• Haplotypes
• Humans
• Polymorphism, Genetic
• STAT2 Transcription Factor (genetics)
• Toll-Like Receptor 4 (genetics)