Association between genetic polymorphisms in the transforming growth factor beta-1 (TGF-β1) gene and asthma

• Main Authors: Hui-Wen Lin, 林慧雯
• Other Authors: Ming-Wei Lin
• Format: Others
• Language: zh-TW
• Published: 2008
• Online Access: http://ndltd.ncl.edu.tw/handle/75286825372856996896

碩士 === 國立陽明大學 === 公共衛生研究所 === 96 === Objectives: Asthma is a complex disease resulting from genetic and environmental factors. Transforming growth factor beta-1 (TGF-β1) is expressed in many cell types like inflammatory and structural cells, such as airway epithelial and smooth muscle cells. TGF-β1 may modulate airway inflammation and remodeling, therefore, TGF-β1 gene is a plausible candidate gene for asthma. The goal of this study was to evaluate the association between asthma and TGF-β1 polymorphism in Hualien population of Taiwan. Methods: To investigate association between asthma and polymorphisms of the TGF-β1 gene, we conducted an age-sex matched case-control study including 283 asthmatic patients and 285 healthy controls from the Buddhist Tzu Chi General Hospital. We selected 4 SNPs (rs1800469、rs1982073、rs2241715 and rs2241716) on TGFβ1 gene and performed genotyping using polymerase chain reaction–restriction fragment length polymorphism (PCR-RFLP) method or TaqMan assay. Results: There were significant differences in the genotype and allele distributions of rs1800469 and rs2241715 polymorphisms of the TGF-β1 gene between asthmatic patients and controls. The combination of TC and TT genotypes of rs1800469 were associated with a significantly increased risk of asthma as compared with the CC genotype (OR=1.697, 95%CI=1.151-2.503). The T allele of rs2241715 was also found to be associated with an increased risk of asthma as compared with the T allele (OR=1.331, 95%CI=1.051-1.684), however, borderline significant genotypic difference was found between asthma and control group. Significant difference in the observed haplotype frequencies between asthma group and control group was also found. Those subjects with haplotype GTCT have increased risk of asthma. Conclusion: Our results suggest that the two polymorphisms (rs1800469 and rs2241715) of the TGF-β1 gene are significantly associated with asthma in Hualien population of Taiwan.