Association of TGF-beta1, IL-4 and IL-13 gene polymerphisms with asthma in a Chinese population.

BACKGROUND: Asthma is a common respiratory disease caused by genetic and environmental factors. It has been suggested that TGF-beta1, IL-4 and IL-13 play important roles in asthma. OBJECTIVES: We attempted to confirm the roles of TGF-beta1, IL-4 and IL-13 polymorphisms in asthma in a Chinese population. METHODS: Five SNPs (rs1800469, rs2241712, rs2070874, rs20541 and rs1800925) in TGF-beta1, IL-4 and IL-13 were genotyped using the MassArray SNP genotyping system. Allelic and genotypic associations between these SNPs and asthma were evaluated using logistic regression analysis. RESULTS: The CT genotype of rs1800469 and T allele of rs20541 were significantly associated with asthma. Among atopic subjects, the CT genotype of rs1800469 and GA genotype of rs2241712 decreased the risk of asthma, while the CC genotype of rs2070874 showed a decreasing trend of asthma risk with a borderline significance. No significant association was found between rs1800925 and asthma. CONCLUSION: In the present study, we confirmed the association of rs1800469 in TGF-beta1 and rs20541 in IL-13 with asthma and found a trend toward association between rs2241712 in TGF-beta1 and rs2070874 in IL-4 with asthma among atopic subjects, suggesting TGF-beta1, IL-4 and IL-13 may be associated with the susceptibility and development of asthma in this Chinese population.

Association of genetic polymorphisms at 1q22 but not 10q23 with gastric cancer in a southern Chinese population.

OBJECTIVE: Data from a recent genome-wide association studiesy of gastric cancer (GC) and oesophageal squamous cell carcinoma in Chinese living in the Taihang Mountains of north-central China suggest that 1q22 and 10q23 are susceptibility-associated regions for GC. However, this has not been confirmed in southern Chinese populations. The aim of this study was to investigate whether these polymorphisms at 1q22 and 10q23 are associated with the risk of GC in a southern Chinese population. METHODS: We selected seven top significant associated single nucleotide polymorphisms (SNPs) at 1q22 and 10q23 and conducted a population-based case- control study in a southern Chinese population. Genotypes were determined using MassARRAYTM system (Sequenome, San Diego, CA). RESULTS: Two SNPs at 1q22, rs4072037 and rs4460629, were significantly associated with a reduced risk of GC, best fitting the dominant genetic model. Logistic regression models adjusted for age and sex showed that rs4072037 AG and GG (OR=0.64, P=0.017, compared with AA) and rs4460629 CT and TT (OR=0.54, P=0.0016, compared with TT) significantly reduced the risk of GC. However, no significant results for the five SNPs at 10q23 were obtained in this study. CONCLUSION: These outcomes indicate that 1q22 is associated with GC susceptibility in this southern Chinese population, while an association for the locus at 10q23 was not confirmed.

HLA class II variants in Chinese breast cancer patients.

Alterations of human leukocyte antigen (HLA) class II molecules are relevant to the development of breast cancer and metastatic progression. However, the role of HLA class II polymorphisms in the pathogenesis and progression of breast cancer is unclear. This study aimed to investigate the association between HLA class II variants and breast cancer susceptibility and prognosis in a Chinese population. Sixteen variants in HLA class II were detected with the Sequenom MassArray® iPLEX System in 216 breast cancer patients and 216 healthy controls. An association analysis based on unconditional logistic regression was carried out to determine the odds ratio (OR) and 95% confidence interval (95% CI) for each SNP. Stratified analysis by oestrogen receptor (ER) and progesterone receptor (PR) status was also performed. Among 16 variants, only seven conformed to Hardy-Weinberg proportions in the controls. None of these seven variants showed statistically significant differences between the case and control groups in this Han Chinese population. However, chr6_32737733, a variant in HLA-DQB1, showed significant associations with both ER-negative and PR-negative breast cancer in the best fit to the dominant model. Furthermore, another significant correlation was seen between chr6_32606112, a variant in HLA-DRB5, and PR positivity. These results indicate that although no breast cancer risk variants in HLA class II were found in this Chinese population, HLA-DQB1 chr6_32737733 may be involved in determining a poor prognosis, whereas HLA-DRB5 chr6_32606112 may relate to a good prognosis.

Association of TGF-β1 , IL-4 and IL-13 gene polymerphisms with asthma in a Chinese population.

Background: Asthma is a common respiratory disease caused by genetic and environmental factors. It has been suggested that TGF-β1, IL-4 and IL-13 play important roles in asthma. Objectives: We attempted to confirm the roles of TGF-β1, IL-4 and IL-13 polymorphisms in asthma in a Chinese population. Methods: Five SNPs (rs1800469, rs2241712, rs2070874, rs20541 and rs1800925) in TGF-β1, IL-4 and IL-13 were genotyped using the MassArray SNP genotyping system. Allelic and genotypic associations between these SNPs and asthma were evaluated using logistic regression analysis. Results: The CT genotype of rs1800469 and T allele of rs20541 were significantly associated with asthma. Among atopic subjects, the CT genotype of rs1800469 and GA genotype of rs2241712 decreased the risk of asthma, while the CC genotype of rs2070874 showed a decreasing trend of asthma risk with a borderline significance. No significant association was found between rs1800925 and asthma. Conclusion: In the present study, we confirmed the association of rs1800469 in TGF-β1 and rs20541 in IL-13 with asthma and found a trend toward association between rs2241712 in TGF-β1 and rs2070874 in IL-4 with asthma among atopic subjects, suggesting TGF-β1, IL-4 and IL-13 may be associated with the susceptibility and development of asthma in this Chinese population.