The role of K121Q ENPP1 polymorphism in diabetes mellitus and its complications

Brazilian Journal of Medical and Biological Research

Volumn 41, Issue 3, 2008, Pages 229-234

  Leitao C B ^a   Nabinger, G B ^a   Krahe, A L ^b   Bolson, P B ^a   Gerchman, F ^a   Friedman, R ^a   Gross, J L ^a   Canani, L H ^a  

^a HOSPITAL DE CLÍNICAS DE PORTO ALEGRE   (Brazil)

^b UNIVERSIDADE LUTERANA DO BRASIL   (Brazil)

Author keywords

ENPP1 polymorphism; Ethnicity; Type 2 diabetes mellitus

Indexed keywords

ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1; MEMBRANE PROTEIN;

ADULT; AFRICAN CARIBBEAN; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD DONOR; BRAZIL; CAUCASIAN; CONTROLLED STUDY; CROSS-SECTIONAL STUDY; DIABETES MELLITUS; DIABETIC PATIENT; DISEASE ASSOCIATION; ETHNIC GROUP; ETHNICITY; FEMALE; GENE FREQUENCY; GENOTYPE; GLUCOSE BLOOD LEVEL; HUMAN; INSULIN RESISTANCE; INSULIN SENSITIVITY; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; PREVALENCE; PROTEIN POLYMORPHISM; SELF REPORT;

EID: 44449121738     PISSN: 0100879X     EISSN: 1414431X     Source Type: Journal    
DOI: 10.1590/S0100-879X2006005000202     Document Type: Article

References (30)

1. Bollen M, Gijsbers R, Ceulemans H, Stalmans W, Stefan C. Nucleotide pyrophosphatases/phosphodiesterases on the move. Crit Rev Biochem Mol Biol 2000; 35: 393-432.
2. Frittitta L, Ercolino T, Bozzali M, Argiolas A, Graci S, Santagati MG, et al. A cluster of three single nucleotide polymorphisms in the 3-untranslated region of human glycoprotein PC-1 gene stabilizes PC-1 mRNA and is associated with increased PC-1 protein content and insulin resistance-related abnormalities. Diabetes 2001, 50: 1952-1955.
3. Meyre D, Bouatia-Naji N, Tounian A, Samson C, Lecoeur C, Vatin V, et al. Variants of ENPP1 are associated with childhood and adult obesity and increase the risk of glucose intolerance and type 2 diabetes. Nat Genet 2005; 37: 863-867.
4. Pizzuti A, Frittitta L, Argiolas A, Baratta R, Goldfine ID, Bozzali M, et al. A polymorphism (K121Q) of the human glycoprotein PC-1 gene coding region is strongly associated with insulin resistance. Diabetes 1999; 48: 1881-1884.
5. Gu HF, Almgren P, Lindholm E, Frittitta L, Pizzuti A, Trischitta V, et al. Association between the human glycoprotein PC-1 gene and elevated glucose and insulin levels in a paired-sibling analysis. Diabetes 2000: 49: 1601-1603.
6. Kubaszek A, Pihlajamaki J, Karhapaa P, Vauhkonen I, Laakso M. The K121Q polymorphism of the PC-1 gene is associated with insulin resistance but not with dyslipidemia. Diabetes Care 2003; 26: 464-467.
7. Rasmussen SK, Urhammer SA, Pizzuti A, Echwald SM. Ekstrom CT, Hansen L, et al. The K121Q variant of the human PC-1 gene is not associated with insulin resistance or type 2 diabetes among Danish Caucasians. Diabetes 2000; 49: 1608-1611.
8. Gonzalez-Sanchez JL, Martinez-Larrad MT, Fernandez-Perez C, Kubaszek A, Laakso M, Serrano-Rios M. K121Q PC-1 gene polymorphism is not associated with insulin resistance in a Spanish population, Obes Res 2003, 11: 603-605.
9. Bacci S, Ludovico O, Prudente S. Zhang YY, Di Paola R, Mangiacotti D, et al. The K121Q polymorphism of the ENPP1/PC-1 gene is associated with insulin resistance/atherogenic phenotypes, including earlier onset of type 2 diabetes and myocardial infarction. Diabetes 2005, 54: 3021-3025.
10. Kubaszek A, Markkanen A, Eriksson JG, Forsen T, Osmond C, Barker DJ, et al. The association of the K121Q polymorphism of the plasma cell glycoprotein-1 gene with type 2 diabetes and hypertension depends on size at birth. J Clin Endocrinol Metab 2004; 89: 2044-2047.
11. Canani LH, Ng DP, Smiles A, Rogus JJ, Warram JH, Krolewski AS. Polymorphism in ecto-nucleotide pyrophosphatase/phosphodiesterase 1 gene (ENPP1/PC-1) and early development of advanced diabetic nephropathy in type 1 diabetes. Diabetes 2002; 51: 1188-1193.
12. Hamaguchi K, Terao H, Kusuda Y, Yamashita T, Hazoury Bahles JA, Cruz LM, et al. The PC-1 Q121 allele is exceptionally prevalent in the Dominican Republic and is associated with type 2 diabetes. J Clin Endocrinol Metab 2004, 89: 1359-1364.
13. Morrison JA, Gruppo R, Glueck CJ, Stroop D, Fontaine RN, Wang P, et al. Population-specific alleles: the polymorphism (K121Q) of the human glycoprotein PC-1 gene is strongly associated with race but not with insulin resistance in black and white children. Metabolism 2004; 53: 465-468
14. Chandalia M, Grundy SM, Adams-Huet B, Abate N. Ethnic differences in the frequency of ENPP1/PC1 121Q genetic variant in the Dallas Heart Study cohort. J Diabetes Complications 2007, 21: 143-148.
15. Harris MI, Flegal KM, Cowie CC, Eberhardt MS, Goldstein DE, Little RR, et al. Prevalence of diabetes, impaired fasting glucose, and impaired glucose tolerance in U.S. adults. The Third National Health and Nutrition Examination Survey, 1988-1994. Diabetes Care 1998, 21: 518-524.
16. Carter JS, Pugh JA, Monterrosa A. Non-insulin-dependent diabetes mellitus in minorities in the United States. Ann Intern Med 1996: 125: 221-232.
17. IBGE. www.ibge.gov.br. Accessed February 22, 2007.
18. Costa LA, Canani LH, Lisboa HR, Tres GS, Gross JL. Aggregation of features of the metabolic syndrome is associated with increased prevalence of chronic complications in type 2 diabetes. Diabet Med 2004; 21: 252-255.
19. Zelmanovitz T, Gross JL. Oliveira JR, Paggi A, Tatsch M, Azevedo MJ. The receiver operating characteristics curve in the evaluation of a random urine specimen as a screening test for diabetic nephropathy. Diabetes Care 1997; 20: 516-519.
20. Bonora E, Targher G, Alberiche M, Bonadonna RC, Saggiani F, Zenere MB, et al. Homeostasis model assessment closely mirrors the glucose clamp technique in the assessment of insulin sensitivity: studies in subjects with various degrees of glucose tolerance and insulin sensitivity. Diabetes Care 2000; 23: 57-63.
21. Seligman BG, Biolo A, Polanczyk CA, Gross JL, Clausell N. Increased pfasma levels of endothelin 1 and von Willebrand factor in patients with type 2 diabetes and dyslipidemia. Diabetes Care 2000; 23: 1395-1400.
22. Sambrock JFE, Mariatis T. Molecular cloning: A manual laboratory. Cold Spring Harbor: Cold Spring Harbor Laboratory: 1990.
23. Factbook. www.cia.gov/cia/publications/factbook/geos/dr.html# People. Accessed December 17, 2005.
24. Jacobsen P, Grarup N, Tamow L, Parving HH, Pedersen O. PC-1 amino acid variant (K121Q) has no impacton progression of diabetic nephropathy in type 1 diabetic patients. Nephrol Dial Transplant 2002; 17: 1408-1412.
25. Abate N, Carulli L, Cabo-Chan A Jr. Chandalia M, Snell PG, Grundy SM. Genetic polymorphism PC-1 K121Q and ethnic susceptibility to insulin resistance. J Clin Endocrinol Metab 2003; 88: 5927-5934.
26. Abate N, Chandalia M, Satija P, Adams-Huet B, Grundy SM, Sandeep S, et al. ENPP1/PC-1 K121Q polymorphism and genetic susceptibility to type 2 diabetes. Diabetes 2005; 54: 1207-1213.
27. de Azevedo MJ, Dalmaz CA, Caramori ML, Pecis M, Esteves JF, Maia AL, et al. ACE and PC-1 gene polymorphisms in normoalbuminuric type 1 diabetic patients: a 10-year prospective study. J Diabetes Complications 2002; 16: 255-262
28. Geichman F, Burttet L, Nabinger G, Picon P, Zanatta C, Lisboa H, et al. High prevalence of macrovascular and microvascular disease among black patients with type 2 diabetes mellitus. Diabetes 2005: 54: A548.
29. Emoto M, Nishizawa Y. Maekawa K, Hiura Y, Kanda H, Kawagishi T, et al. Homeostasis model assessment as a clinical index of insulin resistance in type 2 diabetic patients treated with sulfonylureas. Diabetes Care 1999; 22: 818-822.
30. Wallace TM, Levy JC. Matthews DR. Use and abuse of HOMA modeling. Diabetes Care 2004; 27: 1487-1495.