| Summary: | 碩士 === 輔英科技大學 === 醫事技術系碩士班 === 96 === Primary vesicoureteral reflux (VUR) is a common pediatric disease that may lead to reflux nephropathy (RN) and severe end-stage renal disease (ESRD) in some patients. Current knowledge indicates that the evolution of VUR is not equal in all patients. It suggested the influence of various factors including genetics. The previous study showed significant difference between VUR and control groups and between mild with severe VUR groups in the Type 2 Angiotensin II Receptor (AT2R) polymorphisms. The aim of this study is to investigate the associations of various AT2R gene polymorphisms with the development and severity of primary VUR. Therefore, three AT2R gene polymorphisms including promoter (T-151C), intron (A190G) and 3’-untranslated region (C3123A) were analyzed with SNP Genotyping assay. The subjects in this study included 30 males and 22 females of severe VUR, 29 males and 30 females of mild VUR, 30 males and 30 females of control. The results demonstrate the association between disease and gene polymorphisms. First, presence of VUR in females were demonstrated to be associated with gene polymorphisms in T-151C (p < 0.0001) and A190G (p = 0.005), while the severity of VUR in females were shown to be associated with gene polymorphisms in T-151C (p < 0.0001) and C3123A (p = 0.002). Second, the present of VUR in males were demonstrated to be associated with gene polymorphisms in A190G (p = 0.011) and C3123A (p = 0.002), while the severity of VUR in males were shown to be associated with gene polymorphism in T-151C (p < 0.0001). Third, the odds ratio for the gene polymorphisms in the presence of VUR was analyzed. The odds ratio for the C allele of T-151C in AT2R was 0.14 (95% CI: 0.06-0.34) for females in the presence of VUR. That indicated the negative correlation between C allele and the presence of VUR in females. Forth, the odds ratio for the gene polymorphisms in the severity of VUR was also analyzed. The odds ratio for C allele of T-151C in AT2R was 12.32 (95%CI: 5.13-29.57) for females and 0.08 (95%CI: 0.03-0.21) for males in the severity of VUR. This indicated the positive correlation between C allele and the severity of VUR for females and negative correlation between C allele and the severity of VUR for males. In conclusion, the T-151C polymorphism in AT2R gene may play an important role for the development and severity of VUR. Moreover, that appears to have divergent pattern in male and female. The results may contribute to the prevention of ESRD and RN in the future.
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