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1Genetics of acute and chronic pancreatitis: An update显示文摘Progress made in identifying the genetic susceptibility underlying acute and chronic pancreatitis has benefitted the clinicians in understanding the pathogenesis of the disease in a better way. The identification of mutations in cationic trypsinogen gene(PRSS1 gene; functional gain mutations) and serine protease inhibitor kazal type 1(SPINK1 gene; functional loss mutations) and other potential susceptibility factors in genes that play an important role in the pancreatic secretory functions or response to inflammation during pancreatic injury has changed the current concepts and understanding of a complex multifactorial disease like pancreatitis. An indi-vidual's susceptibility to the disease is governed by ge-netic factors in combination with environmental factors. Candidate gene and genetic linkage studies have iden-tified polymorphisms in cationic trypsinogen(PRSS1), SPINK1, cystic fibrosis trans-membrane conductance regulator(CFTR), Chymotrypsinogen C(CTRC), Ca-thepsin B(CTSB) and calcium sensing receptor(CASR). Individuals with polymorphisms in the mentioned genes and other as yet identified genes are at an enhanced risk for the disease. Recently, polymorphisms in genes other than those involved in 'intra-pancreatic trypsin regulatory mechanism' namely Claudin-2(CLDN2) andCarboxypeptidase A1(CPA1) gene have also been iden-tified for their association with pancreatitis. With ever growing number of studies trying to identify the genetic susceptibility in the form of single nucleotide polymor-phisms, this review is an attempt to compile the avail-able information on the topic.VV Ravi Kanth D Nageshwar Reddy 2014World Journal of Gastrointestinal Pathophysiology2014,5,4:7
2SPINK家族与人类疾病显示文摘丝氨酸蛋白酶抑制物Kazal型(SPINK)家族与慢性胰腺炎、Netherton综合征、食管癌等疾病关系密切。目前对SPINK1、SPINK5、SPINK7等亚族的研究比较清楚,其他一些亚族还有待深入研究。本文综述了SPINK家族的基因定位、蛋白质结构、生理功能以及与人类疾病的关系。李海深 曹云 钱朝南 2010基础医学与临床2010,30,5:7
3Pancreatic secretory trypsin inhibitor:More than a trypsin inhibitor显示文摘Kazal-type serine protease inhibitor is one of the most important and widely distributed protease inhibitor families.Pancreatic secretory trypsin inhibitor(PSTI),also known as serine protease inhibitor Kazal typeⅠ(SPINK1),binds rapidly to trypsin,inhibits its activity and is likely to protect the pancreas from prematurely activated trypsinogen.Therefore,it is an important factor in the onset of pancreatitis.Recent studies found that PSTI/SPINK1 is also involved in self-regulation of acinar cell phagocytosis,proliferation and growth of a variety of cell lines.In addition,it takes part in the response to inflammatory factor or injury and is highly related to adult type Ⅱ citrullinemia.Gai-Ping Wang,Cun-Shuan Xu,College of Life Science,Henan Normal University,Xinxiang 453007,Henan Province,China Co-construction Key Laboratory for Cell Differentiation and Regulation,Henan Normal University,Xinxiang 453007,Henan Province,China 2010World Journal of Gastrointestinal Pathophysiology2010,1,2:2
4CTSB基因多态性位点和慢性胰腺炎的相关性研究进展显示文摘慢性胰腺炎(CP)是胰腺组织慢性进行性不可逆的炎症性疾病,最终导致胰腺组织严重受损。CP常导致胰腺内外分泌功能障碍,临床表现为腹痛、外分泌功能不足和糖尿病。研究表明CP病程较长,且具有反复发作、逐渐加重的特征,部分患者甚至可进展为胰腺癌。唐欣颖 邹文斌 廖专 李兆申 2017中华胰腺病杂志2017,17,4:1
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