Protein tyrosine phosphatase-1B gene PTPN1: Selection of tagging single nucleotide polymorphisms and association with body fat, insulin sensitivity, and the metabolic syndrome in a normal female population

Diabetes

Volumn 54, Issue 11, 2005, Pages 3296-3304

  Spencer Jones, Nicola J ^a   Wang, Xiaoling ^b   Snieder, Harold ^b,c   Spector, Tim D ^c   Carter, Nicholas D ^a   O'Dell, Sandra D ^a,d  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b MEDICAL COLLEGE OF GEORGIA   (United States)

^c ST THOMAS HOSPITAL   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; INSULIN; LEPTIN; PROTEIN TYROSINE PHOSPHATASE 1B; TRIACYLGLYCEROL;

ADULT; ALLELE; ARTICLE; BODY FAT; CONTROLLED STUDY; FEMALE; GENE MAPPING; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; GLUCOSE BLOOD LEVEL; HAPLOTYPE; HUMAN; INSULIN BLOOD LEVEL; INSULIN SENSITIVITY; METABOLIC SYNDROME X; NORMAL HUMAN; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTOLIC BLOOD PRESSURE; TRIACYLGLYCEROL BLOOD LEVEL; TWINS; WAIST CIRCUMFERENCE;

ADIPOSE TISSUE; ADULT; FASTING; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; INSULIN RESISTANCE; LEPTIN; METABOLIC SYNDROME X; MIDDLE AGED; PHYSICAL CHROMOSOME MAPPING; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN-TYROSINE-PHOSPHATASE; REGISTRIES;

EID: 33644686604     PISSN: 00121797     EISSN: 00121797     Source Type: Journal    
DOI: 10.2337/diabetes.54.11.3296     Document Type: Article

References (37)

1. Schwartz MW, Woods SC, Porte D, Seeley RJ, Baskin DG: Central nervous system control of food intake. Nature 404:661-671, 2000
2. Byon JC, Kusari AB, Kusari J: Protein-tyrosine phosphatase-1B acts as a negative regulator of insulin signal transduction. Mol Cell Biochem 182:101-108, 1998
3. Lund IK, Hansen JA, Andersen HS, Moller NP, Billestrup N: Mechanism of protein tyrosine phosphatase 1B-mediated inhibition of leptin signalling. J Mol Endocrinol 34:339-351, 2005
4. Zabolotny JM, Bence-Hanulec KK, Stricker-Krongrad A, Haj F, Wang Y, Minokoshi Y, Kim YB, Elmquist JK, Tartaglia LA, Kahn BB, Neel BG: PTP-1B regulates leptin signal transduction in vivo. Dev Cell 2:489-495, 2002
5. Elchebly M, Payette P, Michaliszyn E, Cromlish W, Collins S, Loy AL, Normandin D, Cheng A, Himms-Hagen J, Chan CC, Ramachandran C, Gresser MJ, Tremblay ML, Kennedy BP: Increased insulin sensitivity and obesity resistance in mice lacking the protein tyrosine phosphatase-1B gene. Science 283:1544-1548, 1999
6. Cheng A, Uetani N, Simoncic PD, Chaubey VP, Lee-Loy A, McGlade CJ, Kennedy BP, Tremblay ML: Attenuation of leptin action and regulation of obesity by protein tyrosine phosphatase 1B. Dev Cell 2:497-503, 2002
7. Maffei M, Halaas J, Ravussin E, Pratley RE, Lee GH, Zhang Y, Fei H, Kim S, Lallone R, Ranganathan S, et al.: Leptin levels in human and rodent: measurement of plasma leptin and ob RNA in obese and weight-reduced subjects. Nat Med 1:1155-1161, 1995
8. Lembertas AV, Perusse L, Chagnon YC, Fisler JS, Warden CH, Purcell-Huynh DA, Dionne FT, Gagnon J, Nadeau A, Lusis AJ, Bouchard C: Identification of an obesity quantitative trait locus on mouse chromosome 2 and evidence of linkage to body fat and insulin on the human homologous region 20q. J Clin Invest 100:1240-1247, 1997
9. Ji L, Malecki M, Warram JH, Yang Y, Rich SS, Krolewski AS: New susceptibility locus for NIDDM is localized to human chromosome 20q. Diabetes 46:876-881, 1997
10. Lee JH, Reed DR, Li WD, Xu W, Joo EJ, Kilker RL, Nanthakumar E, North M, Sakul H, Bell C, Price RA: Genome scan for human obesity and linkage to markers in 20q13. Am J Hum Genet 64:196-209, 1999
11. Echwald SM, Bach H, Vestergaard H, Richelsen B, Kristensen K, Drivsholm T, Borch-Johnsen K, Hansen T, Pedersen O: A P387L variant in protein tyrosine phosphatase-1B (PTP-1B) is associated with type 2 diabetes and impaired serine phosphorylation of PTP-1B in vitro. Diabetes 51:1-6, 2002
12. Mok A, Cao H, Zinman B, Hanley AJ, Harris SB, Kennedy BP, Hegele RA: A single nucleotide polymorphism in protein tyrosine phosphatase PTP-1B is associated with protection from diabetes or impaired glucose tolerance in Oji-Cree. J Clin Endocrinol Metab 87:724-727, 2002
13. Di Paola R, Frittitta L, Miscio G, Bozzali M, Baratta R, Centra M, Spampinato D, Santagati MG, Ercolino T, Cisternino C, Soccio T, Mastroianno S, Tassi V, Almgren P, Pizzuti A, Vigneri R, Trischitta V: A variation in 3′ UTR of hPTP1-B increases specific gene expression and associates with insulin resistance. Am J Hum Genet 70:806-812, 2002
14. Kipfer-Coudreau S, Eberle D, Sahbatou M, Bonhomme A, Guy-Grand B, Froguel P, Galan P, Basdevant A, Clement K: Single nucleotide polymorphisms of protein tyrosine phosphatase 1B gene are associated with obesity in morbidly obese French subjects. Diabetologia 47:1278-1284, 2004
15. Palmer ND, Bento JL, Mychaleckyj JC, Langefeld CD, Campbell JK, Norris JM, Haffner SM, Bergman RN, Bowden DW; Insulin Resistance Atherosclerosis Study (IRAS) Family Study: Association of protein tyrosine phosphatase 1B gene polymorphisms with measures of glucose homeostasis in Hispanic Americans: the Insulin Resistance Atherosclerosis Study (IRAS) family study. Diabetes 53:3013-3019, 2004
16. de Ferranti SD, Gauvreau K, Ludwig DS, Neufeld EJ, Newburger JW, Rifai N: Prevalence of the metabolic syndrome in American adolescents: findings from the Third National Health and Nutrition Examination Survey. Circulation 110:2494-2497, 2004
17. Olivier M, Hsiung CA, Chuang LM, Ho LT, Ting CT, Bustos VI, Lee TM, De Witte A, Chen YD, Olshen R, Rodriguez B, Wen CC, Cox DR: Single nucleotide polymorphisms in protein tyrosine phosphatase 1β (PTPN1) are associated with essential hypertension and obesity. Hum Mol Genet 13:1885-1892, 2004
18. Neale BM, Sham PC: The future of association studies: gene-based analysis and replication. Am J Hum Genet 75:353-362, 2004
19. Chapman JM, Cooper JD, Todd JA, Clayton DG: Detecting disease associations due to linkage disequilibrium using haplotype tags: a class of tests and the determinants of statistical power. Hum Hered 56:18-31, 2003
20. Stram DO, Haiman CA, Hirschhorn JN, Altshuler D, Kolonel LN, Henderson BE, Pike MC: Choosing haplotype-tagging SNPs based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Hum Hered 55:27-36, 2003
21. Spector TD, MacGregor AJ: The St. Thomas' U.K. Adult Twin Registry. Twin Res 5:440-443, 2002
22. Andrew T, Hart D, Snieder H, de Lange M, Spector TD, MacGregor AJ: Are twins and singletons comparable? A study of disease-related and lifestyle characteristics in adult women. Twin Res 4:464-477, 2001
23. Samaras K, Spector TD, Nguyen TV, Baan K, Campbell LV, Kelly PJ: Independent genetic factors determine the amount and distribution of fat in women after the menopause. J Clin Endocrinol Metab 82:781-785, 1997
24. de Lange M, Snieder H, Ariens RA, Andrew T, Grant PJ, Spector TD: The relation between insulin resistance and hemostasis: pleiotropic genes and common environment. Twin Res 6:152-161, 2003
25. Middelberg RP, Spector TD, Swaminathan R, Snieder H: Genetic and environmental influences on lipids, lipoproteins, and apolipoproteins: effects of menopause. Arterioscler Thromb Vasc Biol 22:1142-1147, 2002
26. Thompson D, Stram D, Goldgar D, Witte JS: Haplotype tagging single nucleotide polymorphisms and association studies. Hum Hered 56:48-55, 2003
27. Trégouët D-A, Ducimetère P, Tiret L: Testing association between candidate-gene markers and phenotype in related individuals, by use of estimating equations. Am J Hum Genet 61:189-199, 1997
28. Dong Y, Zhu H, Wang X, Dalageorgou C, Carter N, Spector TD, Snieder H: Obesity reveals an association between blood pressure and the G-protein beta3-subunit gene: a study of female dizygotic twins. Pharmacogenetics 14:419-427, 2004
29. Zaykin DV, Westfall PH, Young SS, Karnoub MA, Wagner MJ, Ehm MG: Testing association of statistically inferred haplotypes with discrete and continuous traits in samples of unrelated individuals. Hum Hered 53:79-91, 2002
30. Stephens M, Donnelly P: A comparison of Bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73:1162-1169, 2003
31. Avignon A, Boegner C, Mariano-Goulart D, Colette C, Monnier L: Assessment of insulin sensitivity from plasma insulin and glucose in the fasting or post oral glucose-load state. Int J Obes Relat Metab Disord 23:512-517, 1999
32. Hanley AJ, Williams K, Gonzalez C, D'Agostino RB Jr, Wagenknecht LE, Stern MP, Haffner SM: Prediction of type 2 diabetes using simple measures of insulin resistance: combined results from the San Antonio Heart Study, the Mexico City Diabetes Study, and the Insulin Resistance Atherosclerosis Study. Diabetes 52:463-469, 2003
33. Abecasis GR, Cookson WO: GOLD: graphical overview of linkage disequilibrium. Bioinformatics 16:182-183, 2000
34. Tabor HK, Risch NJ, Myers RM: Candidate-gene approaches for studying complex genetic traits: practical considerations (Opinion). Nat Rev Genet 3:391-397, 2002
35. Comuzzie AG, Hixson JE, Almasy L, Mitchell BD, Mahaney MC, Dyer TD, Stern MP, MacCluer JW, Blangero J: A major quantitative trait locus determining serum leptin levels and fat mass is located on human chromosome 2. Nat Genet 15:273-276, 1997
36. Sham PC, Cherny SS, Purcell S, Hewitt JK: Power of linkage versus association analysis of quantitative traits, by use of variance-components models, for sibship data. Am J Hum Genet 66:1616-1630, 2000
37. Bento JL, Palmer ND, Mychaleckyj JC, Lange LA, Langefeld CD, Rich SS, Freedman BI, Bowden DW: Association of protein tyrosine phosphatase 1B gene polymorphisms with type 2 diabetes. Diabetes 53:3007-3012, 2004