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胰腺炎相关基因多态性的研究进展

张艳冰 丁佑铭

引用本文:
Citation:

胰腺炎相关基因多态性的研究进展

DOI: 10.3969/j.issn.1001-5256.2018.03.051
详细信息
  • 中图分类号: R576

Research advances in polymorphisms of pancreatitis-associated genes

  • 摘要: 众多涉及胰腺功能的基因突变和多态性均与胰腺炎的病程发展相关。同时,全身炎症反应也会影响胰腺炎的病情危重程度,而编码炎性因子和细胞因子的基因突变与多态性可以调控这些因子的表达,从而影响全身炎症反应的发展。综述了阳离子胰蛋白酶原、胰分泌性胰蛋白酶抑制剂、囊性纤维化跨膜传导调节因子、炎性因子和细胞因子等相关基因多态性与胰腺炎的相关性。

     

  • [1]YADAV D, LOWENFELS AB.The epidemiology of pancreatitis and pancreatic cancer[J].Gastroenterology, 2013, 144 (6) :1252-1261.
    [2] DOU WJ, ZHOU L, WU KC.Risk factors of chronic pancreatitis[J].J Clin Hepatol, 2011, 27 (11) :1180-1183. (in Chinese) 窦维佳, 周林, 吴开春.慢性胰腺炎的危险因素分析[J].临床肝胆病杂志, 2011, 27 (11) :1180-1183.
    [3]QIAN JM, LAI YM.Clinical advances in acute pancreatitis[J].J Clin Hepatol, 2013, 29 (7) :481-483. (in Chinese) 钱家鸣, 赖雅敏.急性胰腺炎分型与病情评估的研究进展[J].临床肝胆病杂志, 2013, 29 (7) :481-483.
    [4]YIN T, WU HS.Progress in diagnosis and treatment of autoimmune pancreatitis[J].J Clin Hepatol, 2015, 31 (5) :665-667. (in Chinese) 殷涛, 吴河水.自身免疫性胰腺炎的诊治进展[J].临床肝胆病杂志, 2015, 31 (5) :665-667.
    [5]TIAN BL.Progress in the study of hereditary pancreatitis[J].Int J Dig Dis, 2002, 22 (3) :178-180. (in Chinese) 田伯乐.遗传性胰腺炎研究现状[J].国际消化病杂志, 2002, 22 (3) :178-180.
    [6]WEISS FU, SIMON P, MAYERLE J, et al.Germline mutations and gene polymorphism associated with human pancreatitis[J].Endocrinol Metab Clin North Am, 2006, 35 (2) :289-302.
    [7]WHITCOMB DC, GORRY MC, PRESTON RA, et al.Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene[J].Nat Genet, 1996, 14 (2) :141.
    [8]RYGIEL AM, BEER S, SIMON P, et al.Gene conversion between cationic trypsinogen (PRSS1) and the pseudogene trypsinogen 6 (PRSS3P2) in patients with chronic pancreatitis[J].Hum Mutat, 2015, 36 (3) :350-356.
    [9]NEMETH BC, SAHINTOTH M.Human cationic trypsinogen (PRSS1) variants and chronic pancreatitis[J].Am J Physiol Gastrointest Liver Physiol, 2014, 306 (6) :g466.
    [10]SIMON P, WEISS FU, ZIMMER KP, et al.Spontaneous and sporadic trypsinogen mutations in idiopathic pancreatitis[J].JAMA, 2002, 288 (17) :2122.
    [11]LI PF.The relationship between N34S gene mutation of SPINK1 and chronic pancreatitis of different types[D].Jinan:Shangdong Univ, 2013. (in Chinese) 李鹏飞.SPINK1基因N34S突变与不同类型慢性胰腺炎发病的关系[D].济南:山东大学, 2013.
    [12]GABORIAUD C, SERRE L, GUY-CROTTE O, et al.Crystal structure of human trypsin 1:unexpected phosphorylation of Tyr151[J].J Mol Biol, 1996, 259 (5) :995-1010.
    [13]WITT H, LUCK W, BECKER M.A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis[J].Gastroenterology, 1999, 117 (1) :7-10.
    [14]TEICH N, OCKENGA J, HOFFMEISTER A, et al.Chronic pancreatitis associated with an activation peptide mutation that facilitates trypsin activation[J].Gastroenterology, 2000, 119 (2) :461.
    [15]FEREC C, RAGUENES O, SALOMON R, et al.Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis[J].J Med Genet, 1999, 36 (3) :228.
    [16]BOULLING A, MASSON E, ZOU WB, et al.Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser) -containing haplotype[J].Hum Mutat, 2017, 38 (8) :1014-1024.
    [17]WITT H, LUCK W, HENNIES HC, et al.Mutations in the gene encoding the serine protease inhibitor, Kazal type1 are associated with chronic pancreatitis[J].Nat Genet, 2000, 25 (2) :213.
    [18]OH HC, LEE TY, KWON S, et al.SPINK1 N34S mutation as a possible cause of chronic pancreatitis in a patient with familial background[J].Korean J Gastroenterol, 2007, 49 (6) :384-389.
    [19]PELAEZ LM, ROBLES DG, CANIZALES QS, et al.PRSS1 and SPINK1 mutations in idiopathic chronic and recurrent acute pancreatitis[J].World J Gastroenterol, 2014, 20 (33) :11788-11792.
    [20]WEISS FU, HALANGK W, LERCH MM.New advances in pancreatic cell physiology and pathophysiology[J].Best Pract Res Clin Gastroenterol, 2008, 22 (1) :3-15.
    [21]MOKMAK W, CHUNSRIVIROT S, ASSAWAMAKIN A, et al.Molecular dynamics simulations reveal structural instability of human trypsin inhibitor upon D50E and Y54H mutations[J].J Mol Model, 2013, 19 (2) :521-528.
    [22]FELDERBAUER P, KARAKAS E, FENDRICH V, et al.Pancreatitis risk in primary hyperparathyroidism:relation to mutations in the SPINK1 trypsin inhibitor (N34S) and the cystic fibrosis gene[J].Am J Gastroenterol, 2008, 103 (2) :368.
    [23]AOUN E, MUDDANA V, PAPACHRISTOU GI, et al.SPINK1N34S is strongly associated with recurrent acute pancreatitis but is not a risk factor for the first or sentinel acute pancreatitis event[J].Am J Gastroenterol, 2010, 105 (2) :446.
    [24]OOI CY, DORFMAN R, CIPOLLI M, et al.Type of CFTR mutation determines risk of pancreatitis in patients with cystic fibrosis[J].Gastroenterology, 2011, 140 (1) :153.
    [25]LODDO I, LIUZZO C, PROCOPIO V, et al.Potential role of ISV8-poly T variants of CFTR gene in recurrent idiopathic pancreatitis:a case series of four children[C].Eur J Hum Genet, 2013, 21 (S2) :502-503.
    [26]NI WH, JIANG L, FEI QJ, et al.The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens[J].Asian J Androl, 2012, 14 (5) :687-690.
    [27]MALATS N, CASALS T, PORTA M, et al.Cystic fibrosis transmembrane regulator (CFTR) ΔF508 mutation and 5T allele in patients with chronic pancreatitis and exocrine pancreatic cancer[J].Gut, 2001, 48 (1) :70.
    [28]LI D, LI J, WANG L, et al.Association between IL-1β, IL-8, and IL-10 polymorphisms and risk of acute pancreatitis[J].Genet Mol Res, 2015, 14 (2) :6635.
    [29]CHI DZ, CHEN J, HUANG DP.Influence of interleukin-1beta and interleukin-6 gene polymorphisms on the development of acute pancreatitis[J].Genet Mol Res, 2015, 14 (1) :975-980.
    [30]CHEN XQ, HUANG HG, ZHOU YN, et al.The study of the relationship between interleukin gene polymorphism and the morbidity of patients with acute pancreatitis[J].Chin Critical Care Med, 2009, 21 (2) :99-102. (in Chinese) 陈先强, 黄鹤光, 周一农, 等.白细胞介素基因多态性与急性胰腺炎病情程度的关系[J].中华危重病急救医学, 2009, 21 (2) :99-102.
    [31]YIN YW, SUN QQ, FENG JQ, et al.Influence of interleukin gene polymorphisms on development of acute pancreatitis:a systematic review and meta-analysis[J].Mol Biol Rep, 2013, 40 (10) :5931-5941.
    [32]BAO XB, MA Z, GU JB, et al.IL-8-251T/A polymorphism is associated with susceptibility to acute pancreatitis[J].Genet Mol Res, 2015, 14 (1) :1508.
    [33]TANG H, LIU CY, WANG XX, et al.The relationship of interleukin-8 gene-251A/T polymorphism and acute pancreatitis[J].Prog Mod Biomed, 2010, 10 (20) :3866-3868. (in Chinese) 唐华, 刘彩云, 王旭霞, 等.白细胞介素-8基因-251A/T多态性与急性胰腺炎的相关性研究[J].现代生物医学进展, 2010, 10 (20) :3866-3868.
    [34]CAO DQ, XIAO CZ.Association between an interleukin-8 promoter polymorphism (-251 A/T) and susceptibility to acute pancreatitis[J].World Chin J Dig, 2010, 18 (33) :3580-3583. (in Chinese) 曹德清, 肖春珍.白介素-8基因启动子区-251A/T多态性与急性胰腺炎的相关性[J].世界华人消化杂志, 2010, 18 (33) :3580-3583.
    [35]JIANG BZ, TANG L, XUE H, et al.Role of IL-10 gene polymorphisms in the development of acute pancreatitis[J].Genet Mol Res, 2016, 15 (2) :1-7.
    [36]CUI Y, ZHU JJ, MA CB, et al.Interleukin 10 gene-1082A/G polymorphism is associated with osteosarcoma risk and poor outcomes in the Chinese population[J].Tumour Biol, 2016, 37 (4) :4517-4522.
    [37]CAI F, CUI N, MA H, et al.Interleukin-10-1082A/G polymorphism is associated with the development of acute pancreatitis in a Chinese population[J].Int J Clin Exp Pathol, 2015, 8 (11) :15170-15176.
    [38]LIU K, CAO Y, KO TC.Gremlin mediates profibrogenic activity of TGF-beta in chronic pancreatitis[J].Pancreas, 2015, 44 (8) :1392.
    [39]BENDICHO MT, GUEDES JC, SILVA NN, et al.Polymorphism of cytokine genes (TGF-beta1, IFN-gamma, IL-6, IL-10, and TNF-alpha) in patients with chronic pancreatitis[J].Pancreas, 2005, 30 (4) :333.
    [40]YANG Z, QI X, WU Q, et al.Lack of association between TNF-αgene promoter polymorphisms and pancreatitis:a meta-analysis[J].Gene, 2012, 503 (2) :229-234.
    [41]OZHAN G, YANAR HT, ERTEKIN C, et al.Polymorphisms in tumour necrosis factor alpha (TNFalpha) gene in patients with acute pancreatitis[J].Mediators Inflamm, 2010, 2010 (1) :482950.
    [42]SCHNEIDER A, BARMADA MM, SLIVKA A, et al.Analysis of tumor necrosis factor-α, transforming growth factor-β1, interleukin-10, and interferon-γpolymorphisms in patients with alcoholic chronic pancreatitis[J].Alcohol, 2004, 32 (1) :19-24.
    [43]WANG YF, ZENG Y.Progress in the study of polymorphisms of acute pancreatitis related genes[J].Int J Dig Dis, 2012, 32 (6) :346-348. (in Chinese) 王一飞, 曾悦.急性胰腺炎相关基因多态性的研究进展[J].国际消化病杂志, 2012, 32 (6) :346-348.
    [44]PAPACHRISTOU GI, MUDDANA V, PAPACHRISTOU DJ, et al.Epidermal growth factor serum levels and the 61 G/A polymorphism in patients with acute pancreatitis[J].Dig Dis Sci, 2010, 55 (9) :2676-2680.
    [45]PAPACHRISTOU GI, MUDDANA V, CORRADO K, et al.S2093 epidermal growth factor+61 G/A polymorphism and serum levels in patients with acute pancreatitis[J].Gastroenterology, 2010, 134 (4) :314.
    [46]YANG YZ, XIAN LN, DENG XY, et al.Expession of MIP-1α, MIP-1βand MCP-1 levels in patients with acute pancreatitis and its clinical sibnificance[J].J Hainan Med Univ, 2017, 23 (9) :1217-1219. (in Chinese) 杨远征, 冼丽娜, 邓小彦, 等.MIP-1α、MIP-1β和MCP-1在急性胰腺炎中的表达及其临床意义[J].海南医学院学报, 2017, 23 (9) :1217-1219.
    [47]WEI C, CHEN WC, NIE JS.Genetic polymorphism of MCP-1-2518, IL-8-251and susceptibility to acute pancreatitis:A pilot study in population of Suzhou, China[J].World J Gastroenterol, 2008, 14 (37) :5744-5748.
    [48]BALOG A, GYULAI Z, BOROS LG, et al.Polymorphism of the TNF-alpha, HSP70-2, and CD14 genes increases susceptibility to severe acute pancreatitis[J].Pancreas, 2005, 30 (2) :46-50.
    [49]ZHANG CX, GUO LK, QIN YM, et al.Interaction between polymorphisms of TLR4 gene GII 367C in 3'untranslated region and IκB-αHae III in acute pancreatitis and the degree of severity[J].J Cent South Univ:Med Sci, 2016, 41 (3) :272-281. (in Chinese) 张超贤, 郭李柯, 秦咏梅, 等.TLR4基因3'未翻译区G11367C与IκB-αHae III位点多态性的交互作用和急性胰腺炎及其严重程度的关系[J].中南大学学报:医学版, 2016, 41 (3) :272-281.
    [50]ZHANG DL, ZHENG HM, YU BJ, et al.Association of polymorphisms of IL and CD14 genes with acute severe pancreatitis and septic shock[J].World J Gastroenterol, 2005, 11 (28) :4409-4413.
    [51]PADUREANU V, BOLDEANU MV, STREATAI, et al.Determination of VEGFR-2 (KDR) 604A>G polymorphism in pancreatic disorders[J].Int J Mol Sci, 2017, 18 (2) :439.
    [52]PADUREANU V, ENESCU A, SILOSI I, et al.The association between chronic pancreatitis and the i NOS-2087A>G polymorphism[J].Rom J Intern Med, 2017, 55 (2) :89-95.
    [53]CHANG YT, CHANG MC, SU TC, et al.Association of cystic fibrosis transmembrane conductance regulator (CFTR) mutation/variant/haplotype and tumor necrosis factor (TNF) promoter polymorphism in hyperlipidemic pancreatitis[J].Clin Chem, 2008, 54 (1) :131.
    [54]CHANG YT, CHANG MT.Lipoprotein lipase mutation S447X associated with pancreatic calcification and steatorrhea in hyperlipidemic pancreatitis[J].J Clin Gastroenterol, 2009, 43 (6) :591-596.
    [55]JAP TS, JENQ SF, WU YC, et al.Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in Taiwan[J].Pancreas, 2003, 27 (2) :122-126.
    [56] XU MY, WU K, WANG XP.Gene polymorphism of lipoprotein lipase inpatient with acute hyperlipidence pancreatitis[J].Chin J Dig, 2008, 28 (9) :600-604.徐铭益, 吴恺, 王兴鹏.高脂血症性急性胰腺炎脂蛋白脂酶基因多态性分析[J].中华消化杂志, 2008, 28 (9) :600-604.
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