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KCI 후보 SCIE SCOPUS
The Glu / Asp Polymorphism of ecNOS Gene and the Renal Progression in Korean Autosomal Dominant Polycystic Kidney Disease ( ADPKD ) Patients
(Jung Geon Lee) , (Curie Ahn) , (Sung Chul Yoon) , (Jong Hoon Park) , (Jin Ju No) , (Chang Suk Moon) , (Eun Kyeung Song) , (Yeong Hwan Hwang) , (Dae Yeon Hwang) , (Yon Su Kim) , (Jin Suk Han) , (Suhng Gwon Kim) , (Jung Sang Lee) , (Seung H
Genes & Genomics 24권 3호 241-246(6pages)
UCI I410-ECN-0102-2009-470-004198789

Two genetic loci, PKD1 and PKD2, have been identified as being responsible for ADPKD, but the presence of an intrafamilial clinical diversity suggests that there are disease-modifying loci. We studied the associations between polymorphism in the ecNOS gene, which are known to be associated with chronic tubulointerstitial and vascular changes, and ADPKD progression in Korean patients. A total of 112 individuals who had ADPKD and 41 normal control subjects were genotyped by PCR-RFLP, the Glu298Asp variant of ecNOS gene was discriminated with MboI. The distribution of the alleles for the ecNOS Glu298Asp polymorphism in ADPKD was: G 88%, T 12%, which was similar to the result of Korean population (95:5, p = 0.128) but different from Western controls (65:35, p = 0.000). No differences were found between the CRF and the non-CRF groups (p = 1.000) or the early hypertension and the normotension groups (p = 1.000). In conclusion, our results suggest that the polymorphism at Glu298Asp of ecNOS has no association with the renal progression in Korean ADPKD patients.

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