SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Indian subcontinent

American Journal of Human Genetics

Volumn 71, Issue 4, 2002, Pages 964-968

  Hassan, Zahid ^a   Mohan, Viswananthan ^b   Ali, Liaquat ^c   Allotey, Rebecca ^d   Barakat, Khalid ^e   Faruque, M Omar ^f   Deepa, Raj ^a   McDermott, Michael F ^b   Jackson, Alan E ^c   Cassell, Paul ^d   Curtis, David ^e   Gelding, Susan V ^a   Vijayaravaghan, Shanti ^b   Gyr, Niklaus ^c   Whitcomb, David C ^d   Khan, A K Azad ^e   Hitman, Graham A ^a,f  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b MADRAS DIABETES RESEARCH FOUNDATION   (India)

^c Bangladesh Institute of Research and Rehabilitation in Diabetes Endocrine and Metabolic Disorders   (Bangladesh)

^d UNIVERSITY HOSPITAL BASEL   (Switzerland)

^e UNIVERSITY OF PITTSBURGH   (United States)

^f ROYAL LONDON HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

APROTININ; TRYPSIN INHIBITOR;

ARTICLE; CHRONIC DISEASE; DIABETES MELLITUS; FEMALE; GENETIC PREDISPOSITION; GENETICS; HUMAN; INDIA; MALE; METABOLISM; MUTATION; PANCREATITIS; PEDIGREE;

CHRONIC DISEASE; DIABETES COMPLICATIONS; DIABETES MELLITUS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INDIA; MALE; MUTATION; PANCREATITIS; PEDIGREE; TRYPSIN INHIBITOR, KAZAL PANCREATIC; TRYPSIN INHIBITORS;

EID: 19044400563     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/342731     Document Type: Article

References (30)

1. Alberti KG, Zimmer PZ (1998) Definition, diagnosis and classification of diabetes mellitus and its complications. Part 1: diagnosis and classification of diaberes mellitus provisional report of a WHO consultation. Diabet Med 15:539-553
2. Chandak GR, Idris MM, Reddy DN, Bhaskar S, Sriram PV, Singh L (2002) Mutations in the pancreatic secretory trypsin inhibitor gene (PSTUSPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. J Med Genet 39:347-351
3. Chen JM, Mercier B, Audrezet MP, Ferec C (2000) Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. J Med Genet 37:67-69
4. Chowdhury ZM, McDermott MF, Davey S, Hassan Z, Sinnott PJ, Hemmatpour SK, Sherwin S, Ali L, Aganna E, Allotey RA, North BV, Cassell PG, Azad Khan AK, Hitman GA (2002) Genetic susceptibility to fibrocalculous pancreatic diabetes in Bangladeshi subjects: a family study. Genes Immun 3:5-8
5. Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS (1998) Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med 339:653-658
6. Gorry MC, Gabbaizedeh D, Furey W, Gates LK Jr, Preston RA, Aston CE, Zhang Y, Ulrich C, Ehrlich GD, Whitcomb DC (1997) Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. Gastroenterology 113:1063-1068
7. Hassan Z, Mohan V, McDermott MF, Ali L, Ogunkolade WB, Aganna E, Cassell PG, Deepa R, Khan AK, Hitman GA (2000) Pancreatitis in fibrocalculous pancreatic diabetes mellitus is not associated with common mutations in the trypsinogen gene. Diabetes Metab Res Rev 16:454-457
8. Kambo PK, Hitman GA, Mohan V, Ramachandran A, Snehalatha C, Suresh S, Metcalfe K, Ryait BK, Viswanathan M (1989) The genetic predisposition to fibrocalculous pancreatic diabetes. Diabetologia 32:45-51
9. Mohan V, Chari ST, Hitman GA, Suresh S, Madanagopalan N, Ramachandran A, Viswanathan M (1989) Familial aggregation in tropical fibrocalculous pancreatic diabetes. Pancreas 4:690-693
10. Mohan V, Nagalotimath SJ, Yajnik CS, Tripathy BB (1998) Fibrocalculous pancreatic diabetes. Diabetes Metab Rev 14:153-170
11. Noone PG, Zhou Z, Silverman LM, Jowell PS, Knowles MR, Cohn JA (2001) Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology 121:1310-1319
12. Ockenga J, Stuhrmann M, Ballmann M, Teich N, Keim V, Dork T, Manns MP (2000) Mutations of the cystic fibrosis gene, but not cationic trypsinogen gene, are associated with recurrent or chronic idiopathic pancreatitis. Am J Gastroenterol 95:2061-2067
13. Pfützer RH, Barmada MM, Brunskill AP, Finch R, Hart PS, Neoptolemos J, Furey WF, Whitcomb DC (2000) SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 119:615-623
14. Pfützer R, Myers E, Applebaum-Shapiro S, Finch R, Ellis I, Neoptolemos J, Kant JA, Whitcomb DC (2002) Novel cationic trypsinogen (PRSS1) N29T and R122C mutations cause autosomal dominant hereditary pancreatitis. Gut 50:271-272
15. Plendl H, Siebert R, Steinemann D, Grote W (2001) High frequency of the N34S mutation in the SPINK1 gene in chronic pancreatitis detected by a new PCR-RFLP assay. Am J Med Genet 100:252-253
16. Ramachandran A, Snehalatha C, Dharmaraj D, Viswanathan M (1992) Prevalence of glucose intolerance in Asian Indians. Urban-rural difference and significance of upper body adiposity. Diabetes Care 15:1348-1355
17. Rossi L, Pfützer RH, Parvin S, Ali, L, Sattar S, Azad Khan AK, Whitcomb DC (2001) SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh. Pancreatology 1:242-245
18. Rossi L, Whitcomb DC, Ehrlich GD, Gorry MC, Parvin S, Sattar S, Ali L, Azad Khan AK, Gyr N (1998) Lack of R117H mutation in the cationic trypsinogen gene in patients with tropical pancreatitis from Bangladesh. Pancreas 17:278-280
19. Sanjeevi CB, Kanungo A, Shtauvere A, Samal KG, Tripathi BB (1999) Association of HLA class II alleles with different subgroups of diabetes mellitus in Eastern India identify different associations with IDDM and malnutrition-related diabetes. Tissue Antigens 54:83-87
20. Schneider A, Suman A, Rossi L, Barmada MM, Beglinger C, Parvin S, Sattar S, Ali L, Azad Khan AK, Gyr N, Whitcomb DC. SPINK1/PST1 mutations are associated with tropical pancreatitis and type II diabetes in Bangladesh. Gastroenterology (in press)
21. Sharer N, Schwarz M, Malone G, Howarth A, Painter J, Super M, Braganza J (1998) Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. N Engl J Med 339:645-652
22. Teich N, Monssner J, Keim V (2002) Systemic overview of genetic variants of cationic trypsinogen and SPINK1 in pancreatitis patients. In: Durie P, Lerch MM, Lowenfles AB, Masisonneuve P, Ulrich CD, Whitcomb DC (eds) Genetic disorders of exocrine pancreas: an overview and update. Karger, Basel, pp 20-22
23. Threadgold J, Greenhalf W, Ellis I, Howes N, Lerch MM, Simon P, Jansen J, Charnley R, Laugier R, Frulloni L, Olah A, Delhaye M, Ihse I, Schaffalitzky de Muckadell OB, Andren-Sandberg A, Imrie CW, Martinek J, Gress TM, Mountford R, Whitcomb D, Neoptolemos JP (2002) The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease. Gut 50:675-681
24. Truninger K, Ammann RW, Blum HE, Witt H (2001) Genetic aspects of chronic pancreatitis: insights into aetiopathogenesis and clinical implications. Swiss Med Wkly 131:565-574
25. Whitcomb DC (1999) Hereditary pancreatitis: new insights into acute and chronic pancreatitis. Gut 45:317-322
26. _ (2000) Genetic predispositions to acute and chronic pancreatitis. Med Clin North Am 84:531-547
27. _ (2002) How to think about SPINK and pancreatitis. Am J Gastroenterol 97:1085-1088
28. Whitcomb DC, Gorry MC, Preston RA, Furey W, Sossenheimer MJ, Ulrich CD, Martin SP, Gates LK Jr, Amann ST, Toskes PP, Liddle R, McGrath K, Uomo G, Post JC, Ehrlich GD (1996) Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. Nat Genet 14:141-145
29. Witt H (2002) The SPINK in chronic pancreatitis: similar finds, different minds. Gut 50:590-591
30. Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U, Landt O, Becker M (2000) Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 25:213-216