Recessive inheritance of obesity in familial non-insulin-dependent diabetes mellitus, and lack of linkage to nine candidate genes

American Journal of Human Genetics

Volumn 61, Issue 3, 1997, Pages 668-677

  Hasstedt, Sandra J ^a   Hoffman, Michael ^b   Leppert, Mark F ^a   Elbein, Steven C ^a,b,c  

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

^b VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; BODY MASS; DIABETES MELLITUS; FEMALE; GENE LOCUS; GENE SEGREGATION; GENETIC LINKAGE; HUMAN; MAJOR CLINICAL STUDY; MALE; NON INSULIN DEPENDENT DIABETES MELLITUS; OBESITY; PEDIGREE ANALYSIS; PRIORITY JOURNAL; RISK FACTOR;

AGOUTI;

EID: 0030846804     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/515509     Document Type: Article

References (83)

1. Ahn YI, Kamboh MI, Hamman RF, Cole SA, Ferrell RE (1993) Two DNA polymorphisms in the lipoprotein lipase gene and their associations with factors related to cardiovascular disease. J Lipid Res 34:421-428
2. Bjørbæk C, Echwald SM, Hubricht P, Vestergaard H, Hansen T, Zierath J, Pedersen O (1994) Genetic variants in promoters and coding regions of the muscle glycogen synthase and the insulin-responsive GLUT4 genes in NIDDM. Diabetes 43:976-983
3. Boyle CR, Elston RC (1979) Multifactorial genetic models for quantitative traits in humans. Biometrics 35:55-68
4. Borecki IB, Bonney GE, Rice T, Bouchard C, Rao DC (1993) Influence of genotype-dependent effects of covariates on the outcome of segregation analysis of the body mass index. Am J Hum Genet 53:676-687
5. Bouchard C (1995) Genetics of obesity: an update on molecular markers. Int J Obes Relat Metab Disord 19 Suppl:S10-S13
6. Brunzell JD (1995) Familial lipoprotein lipase deficiency and other causes of the chylomicronemia syndrome. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic and molecular basis of inherited disease, 7th ed. McGraw-Hill, New York, pp 1913-1932
7. Bruskiewich R, Everson T, Ma L, Chan L, Schertzer M, Giacobino J-P, Muzzin P, et al (1996) Analysis of CA repeat polymorphisms places three human gene loci on the 8p linkage map. Cytogenet Cell Genet 73:331-333
8. Candelore MR, Deng L, Tota LM, Kelly LJ, Cascieri MA, Strader CD (1996) Pharmacological characterization of a recently described human β3-adrenergic receptor mutant. Endocrinology 137:2638-2641
9. Clement K, Garner C, Hager J, Philippi A, LeDuc C, Carey A, Harris TJ, et al (1996) Indication for linkage of the human OB gene region with extreme obesity. Diabetes 45: 687-690
10. 3-adrenergic receptor and an increased capacity to gain weight in patients with morbid obesity. N Engl J Med 333: 352-354
11. Comuzzie AG, Blangero J, Mahaney MC, Mitchell BD, Hixson JE, Samollow PB, Stern MP, et al (1995) Major gene with sex-specific effects influences fat mass in Mexican Americans. Genet Epidemiol 12:475-488
12. Considine RV, Considine EL, Williams CJ, Hyde TM, Caro JF (1996a) The hypothalamic leptin receptor in humans: identification of incidental sequence polymorphisms and absence of the db/db mouse and fa/fa rat mutations. Diabetes 45:992-994
13. Considine RV, Considine EL, Williams CJ, Nyce MR, Zhang P, Opentanova I, Ohannesian JP, et al (1996b) Mutation screening and identification of a sequence variation in the human OB gene coding region. Biochem Biophys Res Commun 220:735-739
14. Curtis D, Gurling H (1993) A procedure for combining two-point lod scores into a summary multipoint map. Hum Hered 43:173-185
15. Donaldson MDC, Chu CE, Cooke A, Wilson A, Greene SA, Stephenson JBP (1994) The Prader-Willi syndrome. Arch Dis Child 70:58-63
16. Duggirala R, Stern MP, Mitchell BD, Reinhart LJ, Shipman PA, Uresandi OC, Chung WK, et al (1996) Quantitative variation in obesity-related traits and insulin precursors linked to the OB gene region on human chromosome 7. Am J Hum Genet 59:694-703
17. Eckel RH (1989) Lipoprotein lipase: a multifunctional enzyme relevant to common metabolic diseases. N Engl J Med 320: 1060-1068
18. Elbein SC, Chiu KC, Hoffman MD, Mayorga RA, Bragg KL, Leppert MF (1995) Linkage analysis of 19 candidate regions for insulin resistance in familial NIDDM. Diabetes 44: 1259-1265
19. 3-adrenergic receptor locus in obesity and noninsulin-dependent diabetes among members of Caucasian families with a diabetic sibling pair. J Clin Endocrinol Metab 81:4422-4427
20. Elbein SC, Hoffman M, Ridinger D, Otterud B, Leppert M (1994a) Description of a second microsatellite marker and linkage analysis of the muscle glycogen synthase locus in familial NIDDM. Diabetes 43:1061-1065
21. Elbein SC, Yeager C, Kwong LK, Lingam A, Inoue I, Lalouel JM, Wilson DE (1994b) Molecular screening of the lipoprotein lipase gene in hypertriglyceridemic members of familial noninsulin-dependent diabetes mellitus families. J Clin Endocrinol Metab 79:1450-1456
22. Elston RC, Stewart J (1971) A general model for the genetic analysis of pedigree data. Hum Hered 21:523-542
23. 3-adrenoceptor: the search for a physiological function. Trends Pharmacol Sci 15:3-7
24. Felber JP, Haesler E, Jequier E (1993) Metabolic origin of insulin resistance in obesity with and without type 2 (non-insulin-dependent) diabetes mellitus. Diabetologia 36: 1221-1229
25. Ferrannini E (1995) Physiological and metabolic consequences of obesity. Metabolism 44 Suppl 3:15-17
26. Fujisawa T, Ikegami H, Yamato E, Takekawa K, Nakagawa Y, Hamada Y, Oga T, et al (1996) Association of Trp64Arg mutation of the β3-adrenergic receptor with NIDDM and body weight gain. Diabetologia 39:349-352
27. Gasser T, Ziegler P, Seifert B, Molinari L, Largo RH, Prader A (1995) Prediction of adult skinfolds and body mass from infancy through adolescence. Ann Hum Biol 22:217-233
28. Gill PE, Murray W, Saunders MA, Wright MH (1986) NPSOL: a fortran package for nonlinear programming. Tech rep SOL 86-2, Department of Operations Research, Stanford University, Stanford
29. Groop LC, Kankuri M, Schalin-Jäntti C, Ekstrand A, Nikula-Ijäs P, Widén E, Kuismanen E, et al (1993) Association between polymorphism of the glycogen synthase gene and non-insulin-dependent diabetes mellitus. N Engl J Med 328:10-14
30. Hamada Y, Ikegami H, Fujioka Y, Yamato E, Takekawa K, Fujisawa T, Nakagawa Y, et al (1995) The glycogen synthase gene in NIDDM and hypertension. Diabetologia 38: 1249-1250
31. Hamann A, Mantzoros C, Vidal-Puig A, Flier JS (1995) Genetic variability in the TNF-α promoter is not associated with type II diabetes mellitus (NIDDM). Biochem Biophys Res Commun 211:833-839
32. Hansen BC (1995) Obesity, diabetes, and insulin resistance: implications from molecular biology, epidemiology, and experimental studies in humans and animals. Synopsis of the American Diabetes Association's 29th Research Symposium and Satellite Conference of the 7th International Congress on Obesity, Boston, Massachusetts. Diabetes Care 18 Suppl 2:A2-A9
33. Hasstedt SJ (1993) Variance components/major locus likelihood approximation for quantitative, polychotomous, and multivariate data. Genet Epidemiol 10:145-158
34. _ (1994) PAP: pedigree analysis package, rev 4. Department of Human Genetics, University of Utah, Salt Lake City
35. Hasstedt SJ, Moll PP (1989) Estimation of genetic model parameters: variables correlated with a quantitative phenotype exhibiting major locus inheritance. Genet Epidemiol 6:319-332
36. Hegele RA, Little JA, Vezina C, Maguire GF, Tu L, Wolever TS, Jenkins DJA, et al (1993) Hepatic lipase deficiency: clinical, biochemical, and molecular genetic characteristics. Arterioscler Thromb 13:720-728
37. Hotamisligil GS, Spiegelman BM (1994) Tumor necrosis factor α: a key component of the obesity-diabetes link. Diabetes 43:1271-1278
38. Jemaa R, Tuzet S, Portos C, Betoulle D, Apfelbaum M, Fumeron F (1995) Lipoprotein lipase gene polymorphisms: associations with hypertriglyceridemia and body mass index in obese people. Int J Obes Relat Metab Disord 19:270-274
39. 3-adrenergic receptor gene is associated with obesity and hyperinsulinemia in Japanese subjects. Biochem Biophys Res Commun 215:555-560
40. Kadowaki T, Kadowaki H, Yazaki Y (1993) Polymorphism of the glycogen synthase gene and non-insulin-dependent diabetes mellitus. N Engl J Med 328:1568-1569
41. Kruglyak L, Lander ES (1995) Complete multipoint sib-pair analysis of qualitative and quantitative traits. Am J Hum Genet 57:439-454
42. 3-adrenergic receptor gene Trp64Arg mutation is overrepresented in obese women: effects on weight, BMI, abdominal fat, blood pressure, and reproductive history in an elderly Australian population. Diabetes 45:1358-1363
43. Kuroyama H, Sanke T, Ohagi S, Furuta M, Furuta H, Nanjo K (1994) Simple tandem repeat DNA polymorphism in the human glycogen synthase gene is associated with NIDDM in Japanese subjects. Diabetologia 37:536-539
44. Kwon HY, Bultman SJ, Löffler C, Chen WJ, Furdon PJ, Powell JG, Usala AL, et al (1994) Molecular structure and chromosomal mapping of the human homolog of the agouti gene. Proc Natl Acad Sci USA 91:9760-9764
45. Lalouel JM, Rao DC, Morton NE, Elston RC (1983) A unified model for complex segregation analysis. Am J Hum Genet 35:816-826
46. Lee GH, Proenca R, Montez JM, Carroll KM, Darvishzadeh JG, Lee JI, Friedman JM (1996) Abnormal splicing of the leptin receptor in diabetic mice. Nature 379:632-635
47. Lehto M, Stoffel M, Groop L, Espinosa R III, Le Beau MM, Bell GI (1993) Assignment of the gene encoding glycogen synthase (GYS) to human chromosome 19, band q13.3. Genomics 15:461-463
48. 3-adrenergic receptor gene in normal weight and obese subjects. Diabetologia 39:857-860
49. Maffei M, Stoffel M, Barone M, Moon B, Dammerman M, Ravussin E, Bogardus C, et al (1996) Absence of mutations in the human OB gene in obese/diabetic subjects. Diabetes 45:679-682
50. Magenis RE, Toth-Fejel S, Allen LJ, Black M, Brown MG, Budden S, Cohen R, et al (1990) Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. Am J Med Genet 35:333-349
51. Miesenböck G, Hölzl B, Föger B, Brandstätter E, Paulweber B, Sandhofer F, Patsch JR (1993) Heterozygous lipoprotein lipase deficiency due to a missense mutation as the cause of impaired triglyceride tolerance with multiple lipoprotein abnormalities. J Clin Invest 91:448-455
52. Moll PP, Burns TL, Lauer RM (1991) The genetic and environmental sources of body mass index variability: the Muscatine ponderosity family study. Am J Hum Genet 49:1243-1255
53. Morton NE, MacLean CJ (1974) Analysis of family resemblance. III. Complex segregation of quantitative traits. Am J Hum Genet 26:489-503
54. Nedwin GE, Naylor SL, Sakaguchi AY, Smith D, Jarrett-Nedwin J, Pennica D, Goeddel DV, et al (1985) Human lymphotoxin and tumor necrosis factor genes: structure, homology and chromosomal localization. Nucleic Acids Res 13:6361-6373
55. Ness R, Laskarzewski P, Price RA (1991) Inheritance of extreme overweight in black families. Hum Biol 63:39-52
56. Niki T, Mori H, Tamori Y, Kishimoto-Hashirmoto M, Ueno H, Araki S, Masugi J, et al (1996) Human obese gene: molecular screening in Japanese and Asian Indian NIDDM patients associated with obesity. Diabetes 45:675-678
57. Norman RA, Bogardus C, Ravussin E (1995) Linkage between obesity and a marker near the tumor necrosis factor-α locus in Pima Indians. J Clin Invest 96:158-162
58. Norman RA, Leibel RL, Chung WK, Power-Kehoe L, Chua SC Jr, Knowler WC, Thompson DB, et al (1996) Absence of linkage of obesity and energy metabolism to markers flanking homologues of rodent obesity genes in Pima Indians. Diabetes 45:1229-1232
59. Ott J (1983) Linkage analysis and family classification under heterogeneity. Ann Hum Genet 47:311-320
60. Price RA, Charles MA, Pettitt DJ, Knowler WC (1994) Obesity in Pima Indians: genetic segregation analyses of body mass index complicated by temporal increases in obesity. Hum Biol 66:251-274
61. Price RA, Ness R, Laskarzewski P (1990) Common major gene inheritance of extreme overweight. Hum Biol 62:747-765
62. Reed DR, Ding Y, Xu W, Gather C, Green ED, Price RA (1996) Extreme obesity may be linked to markers flanking the human OB gene. Diabetes 45:691-694
63. Reed DR, Ding Y, Xu W, Gather C, Price RA (1995) Human obesity does not segregate with the chromosomal regions of Prader-Willi, Bardet-Biedl, Cohen, Borjeson or WilsonTurner syndromes. Int J Obes Relat Metab Disord 19:599-603
64. Schalin-Jäntti C, Nikula-Ijäs P, Huang X, Lehto M, Knudsen P, Syvänne M, Lehtovirta MT, et al (1996) Polymorphism of the glycogen synthase gene in hypertensive and normotensive subjects. Hypertension 27:67-71
65. Schumacher MC, Hasstedt SJ, Hunt SC, Williams RR, Elbein SC (1992) Major gene effect for insulin levels in familial NIDDM pedigrees. Diabetes 41:416-423
66. Shimokawa K, Kadowaki H, Sakura H, Otabe S, Hagura R, Kosaka K, Yazaki Y, et al (1994) Molecular scanning of the glycogen synthase and insulin receptor substrate-1 genes in Japanese subjects with non-insulin-dependent diabetes mellitus. Biochem Biophys Res Commun 202:463-469
67. Smith CAB (1961) Homogeneity test for linkage data. Proc Sec Int Congr Hum Genet 1:212-213
68. Sparkes RS, Zollman S, Klisak I, Kirchgessner TG, Komaromy MC, Mohandas T, Schotz MC, et al (1987) Human genes involved in lipolysis of plasma lipoproteins: mapping of loci for lipoprotein lipase to 8p22 and hepatic lipase to 15q21. Genomics 1:138-144
69. Stern MP, Mitchell BD, Blangero J, Reinhart L, Kammerer CM, Harrison CR, Shipman PA, et al (1996) Evidence for a major gene for type II diabetes and linkage analyses with selected candidate genes in Mexican-Americans. Diabetes 45:563-568
70. Stirling B, Cox NJ, Bell GI, Hanis CL, Spielman RS, Concannon P (1995) Identification of microsatellite markers near the human ob gene and linkage studies in NIDDM-affected sib pairs. Diabetes 44:999-1001
71. Tartaglia LA, Dembski M, Weng X, Deng N, Culpepper J, Devos R, Richards GJ, et al (1995) Identification and expression cloning of a leptin receptor, OB-R. Cell 83:1263-1271
72. Tenkanen H, Taskinen M-R, Antikainen M, Ulmanen I, Kontula K, Ehnholm C (1994) A novel amino acid substitution (His183→Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state. J Lipid Res 35:220-228
73. Tiret L, André J-L, Ducimetière P, Herbeth B, Rakotovao R, Guegen R, Spyckerelle Y, et al (1992) Segregation analysis of height-adjusted weight with generation- and age-dependent effects: the Nancy family study. Genet Epidemiol 9:398-403
74. Ukkola O, Savolainen MJ, Salmela PI, von Dickhoff K, Kesaniemi YA (1995) DNA polymorphisms at the lipoprotein lipase gene are associated with macroangiopathy in type 2 (non-insulin-dependent) diabetes mellites. Atherosclerosis 115:99-105
75. 3-adrenergic-receptor gene. N Engl J Med 333:343-347
76. Wang XL, McCredie RM, Wilcken DEL (1996) Common DNA polymorphisms at the lipoprotein lipase gene: association with severity of coronary artery disease and diabetes. Circulation 93:1339-1345
77. 3-adrenergic-receptor gene with features of the insulin resistance syndrome in Finns. N Engl J Med 333:348-351
78. Wilson DE, Emi M, Iverius P-H, Hata A, Wu LL, Hillas E, Williams RR, et al (1990) Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation. J Clin Invest 86:735-750
79. Xu W, Reed DR, Ding Y, Price RA (1995) Absence of linkage between human obesity and the mouse agouti homologous region (20q11.2) or other markers spanning chromosome 20q. Obes Res 3:559-562
80. vy/-mice: ectopic expression of the agouti gene. FASEB J 8:479-488
81. Young MR, Boehnke M, Moll PP (1988) Correcting for single ascertainment by truncation for a quantitative trait. Am J Hum Genet 43:705-708
82. Zhang Y, Proenca R, Maffei M, Barone M, Leopold L, Friedman JM (1994) Positional cloning of the mouse obese gene and its human homologue. Nature 372:425-432
83. Zouali H, Velho G, Froguel P (1993) Polymorphism of the glycogen synthase gene and non-insulin-dependent diabetes mellitus. N Engl J Med 328:1568