| 中文摘要 |
期刊連結：http://www.gouthyperuricemia.com Objective: To explore the associations of susceptible genetic SNPs related to gout disease in genetic and epigenetic components. Methods: A total of 38 participants were enrolled (22 gout patients and 16 healthy controls) to explore the susceptible genetic SNPs for gout disease by using an Illumina 660W chip in a genome-wide association study (GWAS). Three SNPs where chosen according to the p-value which was estimated from GWAS to test DNA methylations as epigenetics from 10 gout patients and 10 healthy controls. The chi-square test and Wilcoxon rank-sum test were used to test statistical significance of GWAS and DNA methylation, and the alpha-levels were 1*10-7 and 0.05, respectively. Results: The GWAS showed polymorphism rs7267722 in Forkhead Box A2 (FOXA2) gene which was significantly associated with gout disease (p=3.79*10-8). We therefore chose rs7267722 as well as polymorphisms rs4943552 and rs1991914 which are located in TRPC4 and OTOP1 genes respectively to test DNA methylation (p=2.89*10-5 and 2.48*10-4 estimated in GWAS, respectively). The methylation degree in polymorphism rs7267722 showed a significant hypomethylation in gout patients (2.43% ± 0.88) compared to controls (3.80% ± 1.02; p=0.018). But polymorphisms rs4943552 and rs1991914 did not show any significant association with gout disease (p=0.078, p=1.0, respectively). Conclusion: Our data suggests that polymorphism rs7267722 in FOXA2 gene is genetically association in GWAS, and also shows a high degree of association in DNA methylation. |
