한국 요석 환자의 Eta-1/Osteopontin 유전자 다형성 분석
Eta-1/Osteopontin Genetic Polymorphism is Associated with Urolithiasis in Koreans
김태형, 명순철, 김영선, 김혜련, 이미경, 문영태, 이소연, 정우현, 오승영, 김경도,
소속 상세정보
김태형 ( Kim Tae-Hyoung )
중앙대학교 의과대학 비뇨기과학교실
명순철 ( Myung Soon-Chul )
중앙대학교 의과대학 비뇨기과학교실
김영선 ( Kim Young-Sun )
중앙대학교 의과대학 비뇨기과학교실
김혜련 ( Kim Hye-Ryun )
중앙대학교 의과대학 진단검사의학교실
이미경 ( Lee Mi-Kyung )
중앙대학교 의과대학 진단검사의학교실
문영태 ( Moon Young-Tae )
중앙대학교 의과대학 비뇨기과학교실
이소연 ( Lee So-Yeon )
중앙대학교 의과대학 비뇨기과학교실
정우현 ( Jung Woo-Hyun )
중앙대학교 의과대학 비뇨기과학교실
오승영 ( Oh Seung-Young )
중앙대학교 의과대학 비뇨기과학교실
김경도 ( Kim Kyung-Do )
중앙대학교 의과대학 비뇨기과학교실
KMID : 0358320080490010055
Abstract
Purpose: Osteopontin(OPN) is one of the major non-collagenous bone matrix proteins produced by osteoblasts and osteolclasts, and it is also involved in the pathogenesis of urolithiasis. Single nucleotide polymorphisms(SNPs), as a tool for searching for the genetic markers of disease, have a large role in investigating the genetic markers of complex human diseases. The aim of this study is to investigate the association with this SNP at position nucleotide 9250(C→T) in the OPN gene and the susceptibility to urolithiasis. We also compared the allele frequency of Koreans with those of Americans and Japanese.
Materials and Methods: A total of 161 urolithiasis patients and 104 healthy controls were studied. The SNPs located at position 9520 in the OPN gene were genotyped using restriction fragment length polymorphism(RFLP). The wild-type sequence contains a C while the polymorphism variant is a T(C→T), which results in the appearance of an Alu I restriction site.
Results: The gene frequencies of C/C, C/T and T/T at position 9250 on the Eta-1/osteopontin gene in urolithiasis patients were 10.6%, 36.6% and 52.8%, respectively, compared with 6.7%, 27.9% and 65.8%, respectively, in the controls(p＞0.05). The allele frequencies of C and T at this position in the urolithiasis patients were 28.9 and 72.1, respectively, whereas those in the controls were 20.7 and 79.3, respectively,(p＜0.05). The allele frequencies found in the present study were compared with those coding SNPs described in the USA database; 60 and 39(USA) vs 20.7 and 79.3 (Korea), respectively(p＜0.05).
Conclusions: Those findings suggest there is no association of with Eta-1/osteopontin genetic polymorphism, but the allele frequencies were significantly associated with urolithiasis patients. We also observed difference of allele frequencies in our controls and in the USA controls and these differences may be caused by a difference in the incidence of urolithiasis patients between the two countries.
키워드
Eta-1/osteopontin;Urolithiasis;Polymorphism
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