Interaction between a novel intronic IVS3+172 variant and N29I mutation in PRSS1 gene is associated with pancreatitis in a Malaysian Chinese family

Pancreatology

Volumn 11, Issue 4, 2011, Pages 441-444

  Chua, Kek Heng ^a   Puah, Suat Moi ^a   Chew, Ching Hoong ^a   Wong, Choon Heng ^a   Goh, Khean Lee ^a  

^a UNIVERSITY OF MALAYA   (Malaysia)

Author keywords

Hereditary pancreatitis; Mutations; PRSS1 gene; SPINK1 gene; variants

Indexed keywords

APROTININ; GENOMIC DNA; TRYPSINOGEN;

ADULT; ARTICLE; CLINICAL ARTICLE; GENE INTERACTION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; PANCREATITIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 80054869986     PISSN: 14243903     EISSN: 14243911     Source Type: Journal    
DOI: 10.1159/000330943     Document Type: Article

References (23)

1. Grigorescu M, Grigorescu MD: Genetic factor in pancreatitis. Rom J Gastroenterol 2005; 14: 53-61.
2. Rosendahl J, Bödeker H, Mössner J, Teich N: Hereditary chronic pancreatitis. Orphanet J Rare Dis 2007; 2: 1-10.
3. Pandya A, Blanton SH, Landa B, Javaheri R, Melvin E, Nance WE, Markello T: Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q. Genomics 1996; 38: 227-230. (Pubitemid 26424603)
4. Puah SM, Lian LH, Chew CH, Chua KH, Tan SY: A study of association of the complement C4 mutations with systemic lupus erythematosus in the Malaysian population. Lupus 2007; 16: 750-754. (Pubitemid 47517873)
5. Chew CH, Chua KH, Lian LH, Tan SY: PCRRFLP genotyping of C1q mutations and single nucleotide polymorphisms in Malaysian patients with systemic lupus erythematosus. Hum Biol 2008; 80: 83-93. (Pubitemid 351600434)
6. Chua KH, Ida H, Ng CC, Eng TL, Lee WS, Shanthi P, Goh KL: The identification of NOD2/CARD15 mutations/variants in Malaysian patients with Crohn's disease. J Dig Dis 2009; 10: 124-130.
7. Teh CSJ, Chua KH, Thong KL: Simultaneous differentiation detection of human pathogenic and non-pathogenic Vibrio species using a multiplex PCR based on gyrB and pntA genes. J Appl Microbiol 2009; 108: 1940-1945.
8. Thong KL, Lai MY, Teh CSJ, Chua KH: Simultaneous detection of methicillin-resistant Staphylococcus aureus , Acinetobacter baumannii , Escherichia coli , Klebsiella pneumoniae and Pseudomonas aeruginosa by multiplex PCR. Trop Biomed 2011; 28: 21-31.
9. Chua KH, Puah SM, Chew CH, Tan SY and Lian LH: Study of the CTLA-4 Gene polymorphisms in systemic lupus erythematosus samples from Malaysia. Ann Hum Biol 2010; 37: 275-281.
10. Chua KH, Kee BP, Tan SY and Lian LH: An association between interleukin-6 promoter polymorphisms (-174 G/C) and systemic lupus erythematosus. Braz J Med Biol Res 2009; 42: 551-555.
11. Matys V, Kel-Margoulis OV, Fricke E, Liebich I, Land S, Barre-Dirrie A, Reuter I, Chekmeney D, Krull M, Hornischer K, Voss N, Stegmaier P, Lewicki-Potapov B, Saxel H, Kel AE, Wingender E: TRANSFAC and its module TRANSCompel: transcriptional gene regulation in eukaryotes. Nucleic Acids Res 2006; 34:D108-D110.
12. Gorry MC, Gabbaizedeh D, Furey W, Gates LKJ, Preston RA, Aston CE, Zhang Y, Ulrich C, Ehrlich GD, Whitcomb DC: Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 1997; 113: 1063-1068. (Pubitemid 27418957)
13. Teich N, Mössner J, Keim V: Mutations of the cationic trypsinogen in hereditary pancreatitis. Hum Mutat 1998; 12: 39-43. (Pubitemid 28262223)
14. Ferec C, Raguenes O, Salomon R, Roche C, Bernard J, Guillot M, Quere I, Faure C, Mercier B, Audrezet M, Guillausseau P, Dupont C, Munnich A, Bignon J, Le Bodic L: Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. J Med Genet 1999; 36: 228-232. (Pubitemid 29110455)
15. Nishimori I, Kamakura M, Fujikawa-Abachi K, Morita M, Onishi S, Yokoyama K, Makino I, Ishida H, Yamamoto M, Watanabe S, Ogawa M: Mutations in exons 2 and 3 of the cationic trypsinogen gene in Japanese families with hereditary pancreatitis. Gut 1999; 44: 259-263. (Pubitemid 29119371)
16. Shin JY, Oh DS, Rheu JM, Shim JO, Park JS, Ko JS, Seo JK: A case of hereditary pancreatitis with a N29I mutation in the cationic trypsinogen gene. Korean J Pediatrics 2006; 49: 1111-1115.
17. Sahin-Tóth M: Human cationic trypsinogen. Role of Asn-21 in zymogen activation and implications in hereditary pancreatitis. J Biol Chem 2000; 275: 22750-22755. (Pubitemid 30646157)
18. Szilágyi L, Kénesi E, Katona G, Kaslik G, Juhász G, Gráf L: Comparative in vitro studies on native and recombinant human cationic trypsins. Cathepsin B is a possible pathological activator of trypsinogen in pancreatitis. J Biol Chem 2001; 276: 24574-24580.
19. Teich N, Nemoda Z, Köhler H, Heinritz W, Mössner J, Keim V, Sahin-Tóth M: Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. Hum Mutat 2005; 25: 343-347. (Pubitemid 40524661)
20. Otsuki M, Nishimori I, Hayakawa T, Hirota M, Ogawa M, Shimosegawa T: Research Committee on Intractable Disease of the Pancreas. Hereditary pancreatitis: clinical characteristics and diagnostic criteria in Japan. Pancreas 2004; 28: 200-206. (Pubitemid 38269781)
21. Howes N, Lerch MM, Greenhalf W, Stocken DD, Ellis I, Simon P, Truninger K, Ammann R, Cavallini G, Charnley RM, Uomo G, Delhave M, Spicak J, Drumm B, Jansen J, Mountford R, Whitcomb DC, Neoptolemos JP: European Registry of Hereditary Pancreatitis and Pancreatic Cancer (EUROPAC): Clinical and genetic characteristics of hereditary pancreatitis in Europe. Clin Gastroenterol Hepatol 2004; 2: 252-261.
22. Liu QC, Gao F, Ou QS, Zhuang ZH, Lin ST, Yang B, Cheng ZJ: Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis. Chin Med J 2008; 121: 108-111. (Pubitemid 351247881)
23. Liu QC, Gao F, Cheng ZJ, Ou QS: Multisite mutations of the PRSS1 gene in a Chinese patient with chronic pancreatitis. Hepatobiliary Pancreat Dis Int 2008; 7: 331-332. (Pubitemid 351895399)