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PRSS1, SPINK1, CFTR, and CTRC Pathogenic Variants in Korean Patients With Idiopathic Pancreatitis
조선미,신새암,이경아 대한진단검사의학회 2016 Annals of Laboratory Medicine Vol.36 No.6
Background: This study aimed to identify pathogenic variants of PRSS1, SPINK1, CFTR, and CTRC genes in Korean patients with idiopathic pancreatitis. Methods: The study population consisted of 116 Korean subjects (65 males, 51 females; mean age, 30.4 yr, range, 1-88 yr) diagnosed with idiopathic chronic pancreatitis (ICP), idiopathic recurrent acute pancreatitis (IRAP), or idiopathic acute pancreatitis (IAP). We analyzed sequences of targeted regions in the PRSS1, SPINK1, CFTR, and CTRC genes, copy numbers of PRSS1 and SPINK1, and clinical data from medical records. Results: We identified three types of pathogenic PRSS1 variants in 11 patients, including p.N29I (n=1), p.R122H (n=1), and p.G208A (n=9). Sixteen patients exhibited heterozygous pathogenic variants of SPINK1, including c.194+2T>C (n=12), p.N34S (n=3), and a novel pathogenic splicing variation c.194+1G>A. A heterozygous CFTR p.Q1352H pathogenic variant was detected in eight patients. One patient carried a heterozygous CTRC p.P249L pathogenic variant, which is a known high-risk variant for pancreatitis. All patients had normal PRSS1 and SPINK1 gene copy numbers. Weight loss occurred more frequently in patients carrying the p.G208A pathogenic variant, while pancreatic duct stones occurred more frequently in patients with the c.194+2T>C pathogenic variant. Conclusions: Pathogenic variants of PRSS1, SPINK1, and CFTR were associated with idiopathic pancreatitis, while pathogenic variants of CTRC were not. Copy number variations of PRSS1 and SPINK1 were not detected.
Cho, Sun-Mi,Shin, Saeam,Lee, Kyung-A The Korean Society for Laboratory Medicine 2016 Annals of Laboratory Medicine Vol.36 No.6
<P><B>Background</B></P><P>This study aimed to identify pathogenic variants of <I>PRSS1</I>, <I>SPINK1</I>, <I>CFTR</I>, and <I>CTRC</I> genes in Korean patients with idiopathic pancreatitis.</P><P><B>Methods</B></P><P>The study population consisted of 116 Korean subjects (65 males, 51 females; mean age, 30.4 yr, range, 1-88 yr) diagnosed with idiopathic chronic pancreatitis (ICP), idiopathic recurrent acute pancreatitis (IRAP), or idiopathic acute pancreatitis (IAP). We analyzed sequences of targeted regions in the <I>PRSS1</I>, <I>SPINK1</I>, <I>CFTR</I>, and <I>CTRC</I> genes, copy numbers of <I>PRSS1</I> and <I>SPINK1</I>, and clinical data from medical records.</P><P><B>Results</B></P><P>We identified three types of pathogenic <I>PRSS1</I> variants in 11 patients, including p.N29I (n=1), p.R122H (n=1), and p.G208A (n=9). Sixteen patients exhibited heterozygous pathogenic variants of <I>SPINK1</I>, including c.194+2T>C (n=12), p.N34S (n=3), and a novel pathogenic splicing variation c.194+1G>A. A heterozygous <I>CFTR</I> p.Q1352H pathogenic variant was detected in eight patients. One patient carried a heterozygous <I>CTRC</I> p.P249L pathogenic variant, which is a known high-risk variant for pancreatitis. All patients had normal <I>PRSS1</I> and <I>SPINK1</I> gene copy numbers. Weight loss occurred more frequently in patients carrying the p.G208A pathogenic variant, while pancreatic duct stones occurred more frequently in patients with the c.194+2T>C pathogenic variant.</P><P><B>Conclusions</B></P><P>Pathogenic variants of <I>PRSS1</I>, <I>SPINK1</I>, and <I>CFTR</I> were associated with idiopathic pancreatitis, while pathogenic variants of <I>CTRC</I> were not. Copy number variations of <I>PRSS1</I> and <I>SPINK1</I> were not detected.</P>
가족 SPINK1 N34S 유전자 변이가 확인된 만성 췌장염 1예
오형철 ( Hyoung Chul Oh ),이태윤 ( Tae Yoon Lee ),권승현 ( Seung Hyun Kwon ),이상수 ( Sang Soo Lee ),서동완 ( Dong Wan Seo ),이성구 ( Sung Koo Lee ),김명환 ( Myung Hwan Kim ) 대한소화기학회 2007 대한소화기학회지 Vol.49 No.6
New insight in the field of chronic pancreatitis was provided by the discovery of protease serine 1 (PRSS1) mutation, inherited by autosomal dominant trait in hereditary pancreatitis. Serine protease inhibior, Kazal type 1(SPINK1) is a potent protease inhibitor which prevents premature intrapancreatic activation of trypsin and pancreatic autodigestion. Strong associations of SPINK1 mutation and different forms of pancreatitis were suggested. However, it is unlikely that SPINK1 mutation alone can cause chronic pancreatitis. This mutation acts as a disease-modifier or plays a role within polygenic or multifactorial models. A 23 year-old young woman with chronic pancreatitis was recently discovered to have SPINK1 N34S heterozygous mutation cosegregated with two intronic mutations, IVS1-37T>C and IVS3-69insTTTT, during the evaluation for potential cause of chronic idiopathic pancreatitis. The same mutation was identified in her mother. This is the first report in Korea suggesting that SPINK1 mutation would be a possible cause of chronic pancreatitis in a patient with familial background. (Korean J Gastroenterol 2007;49:384-389)
( Liyun Xu ),( Changchang Lu ),( Yanyan Huang ),( Jihang Zhou ),( Xincheng Wang ),( Chaowu Liu ),( Jun Chen ),( Hanbo Le ) 생화학분자생물학회(구 한국생화학분자생물학회) 2018 BMB Reports Vol.51 No.12
Serine protease inhibitor Kazal type 1 (SPINK1) plays a role in protecting the pancreas against premature activation of trypsinogen and is involved in cancer progression. SPINK1 promoted LAC cells growth, migration, and invasion. Mechanistically, we found that SPINK1 promoted LAC cells migration and invasion via up-regulating matrix metalloproteinase 12 (MMP12). We observed that SPINK1 expression was only up-regulated in lung adenocarcinoma (LAC) tissues, and was an independent prognostic factor for poor survival. Our results indicate that SPINK1 might be a potential biomarker for LAC that promotes progression by MMP12. [BMB Reports 2018; 51(12): 648-653]
한국인 만성 췌장염 환자에서 SPINK1 및 PRSS1 유전자 변이
이광혁 ( Kwang Hyuck Lee ),윤원재 ( Won Jae Yoon ),류지곤 ( Ji Kon Ryu ),김용태 ( Yong Tae Kim ),윤용범 ( Yong Bum Yoon ),김정룡 ( Chung Yong Kim ) 대한소화기학회 2004 대한소화기학회지 Vol.44 No.2
Background/Aims: It has been found that mutations of cationic trypsinogen gene (PRSS1) and serine protease inhibitor, Kazal type 1 gene (SPINK1) increase the susceptibility of chronic pancreatitis (CP). Specifically, mutations in the PRSS1 gene are relate
이광혁 ( Lee Gwang Hyeog ),류지곤 ( Lyu Ji Gon ),김용태 ( Kim Yong Tae ),윤용범 ( Yun Yong Beom ),김정룡 ( Gim Jeong Lyong ) 대한소화기학회 2003 대한소화기학회 추계학술대회 Vol.2003 No.-
<목적> 만성 췌장염 환자에서 질병을 일으키는 유전자들에 대한 연구에 의해 많은 유전자 변이가 밝혀졌다. 이 중에 대표적인 유전자 변이로 트립신의 활성도를 억제하는 단백질 SPINK1 (Serine Protease Inhibitor Kazal type 1) 유전자 변이가 있는데, 서양에서는 만성 췌장염 환자에서 그 빈도가 높아 만성 췌장염 발병에 기여할 것으로 알려졌다. 본 연구에서는 우리나라 각 췌장염 환자에서 SPINK1 유전자 변이 빈도를 조사하여