The SPINK1 N34S mutation is not associated with Type 2 diabetes mellitus in a population of the USA

Diabetic Medicine

Volumn 22, Issue 6, 2005, Pages 744-748

  Schneider, A ^a   Lawrence, E C ^c   Barmada, M M ^c   Norris, J M ^d   Hamman, R F ^d   Marshall, J A ^d   Ferrell, R E ^c   Whitcomb, David C ^a,b,e  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

^d UNIVERSITY OF COLORADO   (United States)

^e PRESBYTERIAN UNIVERSITY HOSPITAL   (United States)

Author keywords

Chronic pancreatitis; Pancreatic secretory trypsin inhibitor; Serine protease inhibitor Kazal type 1; Type 2 diabetes mellitus

Indexed keywords

GENOMIC DNA; SERINE PROTEASE INHIBITOR KAZAL TYPE 1; SERINE PROTEINASE INHIBITOR; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; BANGLADESH; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE CLASSIFICATION; ETHNOLOGY; FLUORESCENCE POLARIZATION; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; IMPAIRED GLUCOSE TOLERANCE; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MUTATION RATE; NON INSULIN DEPENDENT DIABETES MELLITUS; NUCLEOTIDE SEQUENCE; ONSET AGE; UNITED STATES;

CHRONIC DISEASE; DIABETES MELLITUS, TYPE 2; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; PANCREATITIS; TRYPSIN INHIBITOR, KAZAL PANCREATIC;

EID: 20444380024     PISSN: 07423071     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1464-5491.2005.01513.x     Document Type: Article

References (33)

1. Mokdad AH, Ford ES, Bowman BA, Nelson DE, Engelgau MM, Vinicor F et al. Diabetes trends in the US: 1990-1998. Diabetes Care 2000; 23: 1278-1283.
2. Rosenbloom AL, Joe JR, Young RS, Winter WE. Emerging epidemic of type 2 diabetes in youth. Diabetes Care 1999; 22: 345-354.
3. Polonsky KS, Sturis J, Bell GI. Seminars in Medicine of the Beth Israel Hospital, Boston. Non-insulin-dependent diabetes mellitus-a genetically programmed failure of the β cell to compensate for insulin resistance. N Engl J Med 1996; 334: 777-783.
4. Boden G. Pathogenesis of type 2 diabetes. Insulin resistance. Endocrinol Metab Clin North Am 2001; 30: 801-815.
5. Turner RC, Hattersley AT, Shaw JT, Levy JC. Type II diabetes: clinical aspects of molecular biological studies. Diabetes 1995; 44: 1-10.
6. Abate N, Chandalia M. Ethnicity and type 2 diabetes: focus on Asian Indians. J Diabetes Complications 2001; 15: 320-327.
7. Permutt MA, Wasson JC, Suarez BK, Lin J, Thomas J, Meyer J et al. A genome scan for type 2 diabetes susceptibility loci in a genetically isolated population. Diabetes 2001; 50: 681-685.
8. Hanis CL, Boerwinkle E, Chakraborty R, Ellsworth DL, Concannon P, Stirling B et al. A genome-wide search for human non-insulin-dependent (type 2) diabetes genes reveals a major susceptibility locus on chromosome 2. Nat Genet 1996; 13: 161-166.
9. Ghosh S, Watanabe RM, Hauser ER, Valle T, Magnuson VL, Erdos MR et al. Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs. Proc Natl Acad Sci USA 1999; 96: 2198-2203.
10. Ghosh S, Watanabe RM, Valle TT, Hauser ER, Magnuson VL, Langefeld CD et al. The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes. Am J Hum Genet 2000; 67: 1174-1185.
11. Rinderknecht H. Pancreatic secretory enzymes. In: Go VL, DiMagno EP, Gardner JD, Lebenthal E, Reber HA, Scheele GA, eds. The Pancreas: Biology, Pathobiology, and Disease. New York: Raven, 1993: 219-251.
12. Witt H, Luck W, Hennies HC, Classen M, Kage A, Lass U et al. Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. Nat Genet 2000; 25: 213-216.
13. Pfützer RH, Barmada MM, Brunskill AP, Finch R, Hart PS, Neoptolemos J et al. SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. Gastroenterology 2000; 119: 615-623.
14. Chen JM, Mercier B, Audrezet MP, Raguenes O, Quere I, Ferec C. Mutations of the pancreatic secretory trypsin inhibitor (PSTI) gene in idiopathic chronic pancreatitis. Gastroenterology 2001; 120: 1061-1062.
15. Witt H, Luck W, Becker M, Böhmig M, Kage A, Truninger K et al. Mutation in the SPINK1 trypsin inhibitor gene, alcohol abuse, and chronic pancreatitis. J Am Med Assoc 2001; 285: 2716-2717.
16. Rossi L, Pfützer RH, Parvin S, Ali L, Sattar S, Azad Kahn AK et al. SPINK1/PSTI mutations are associated with tropical pancreatitis in Bangladesh: a preliminary report. Pancreatology 2001; 1: 242-245.
17. Threadgold J, Greenhalf W, Ellis I, Howes N, Lerch MM, Simon P et al. The N34S mutation of SPINK1 (PSTI) is associated with a familial pattern of idiopathic chronic pancreatitis but does not cause the disease. Gut 2002; 50: 675-681.
18. Drenth JP, te Morsche R, Jansen JB. Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis. Gut 2002; 50: 687-692.
19. Chandak GR, Idris MM, Reddy DN, Bhaskar S, Sriram PV, Singh L. Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/ SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. J Med Genet 2002; 39: 347-351.
20. Hassan Z, Mohan V, Ali L, Allotey R, Barakat K, Faruque O et al. SPINK1 is a susceptibility gene for fibrocalculous pancreatic diabetes in subjects from the Southern Indian sub-continent. Am J Hum Genet 2002; 71: 964-968.
21. Bhatia E, Choudhuri G, Sikora SS, Landt O, Kage A, Becker M et al. Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations. Gastroenterology 2002; 123: 1020-1025.
22. Schneider A, Suman A, Rossi L, Barmada MM, Parvin S, Sattar S et al. SPINK1/PSTI mutations are associated with tropical pancreatitis and type II diabetes mellitus in Bangladesh. Gastroenterology 2002; 123: 1026-1030.
23. Löhr JM. Exocrine pancreatic insufficiency in diabetes mellitus. In: Büchler MW, Friess H, Uhl W, Malfertheiner P, eds. Chronic Pancreatitis. Novel Concepts in Biology and Therapy. Berlin; Wien: Blackwell Wissenschafts-Verlag GmbH, 2002: 457-463.
24. Hamman RF, Marshall JA, Baxter J, Kahn LB, Mayer EJ, Orleans M et al. Methods and prevalence of non-insulin-dependent diabetes mellitus in a biethnic Colorado population. The San Luis Valley Diabetes Study. Am J Epidemiol 1989; 129: 295-311.
25. Chen X, Levine L, Kwok PY. Fluorescence polarization in homogeneous nucleic acid analysis. Genome Res 1999; 9: 492-498.
26. Martin ER, Monks SA, Warren LL, Kaplan NL. A test for linkage and association in general pedigrees: the pedigree disequilibrium test. Am J Hum Genet 2000; 67; 146-154.
27. Clayton D, Jones H. Transmission/disequilibrium tests for extended marker haplotypes. Am J Hum Genet 1999; 65: 1161-1169.
28. Horvath S, Xu X, Laird N. The family-based association test method: strategies for studying general genotype-phenotype associations. Eur J Hum Gen 2001; 9: 301-306.
29. Holmans P, Craddock N. Efficient strategies for genome scanning using maximum-likelihood affected-sib-pair analysis. Am J Hum Genet 1997; 60: 657-666.
30. Kong A, Cox NJ. Allele-sharing models: LOD scores and accurate linkage tests. Am J Hum Genet 1997; 61: 1179-1188.
31. Etemad B, Whitcomb DC. Chronic pancreatitis: diagnosis, classification, and new genetic developments. Gastroenterology 2001; 120: 682-707.
32. Bhatia E, Kordonouri O, Balasubramanium K, Rajeswari J, Landt O, Simon P et al. Absence of association between SPINK1 trypsin inhibitor mutations and type 1 or 2 diabetes mellitus in India and Germany. Diabetologia 2003; 46: 1710-1711.
33. Mather HM, Keen H. The Southall Diabetes Survey: prevalence of known diabetes in Asians and Europeans. Br Med J 1985; 291: 1081-1084.