Association of β2 adrenergic receptor polymorphisms and related haplotypes with triglyceride and LDL-cholesterol levels

European Journal of Human Genetics

Volumn 14, Issue 1, 2006, Pages 94-100

  Petrone, Antonio ^a   Zavarella, Sara ^a   Iacobellis, Gianluca ^a   Zampetti, Simona ^a   Vania, Andrea ^a   Di Pietro, Sergio ^b   Galgani, Andrea ^a   Leonetti, Frida ^a   Di Mario, Umberto ^a   Buzzetti, Raffaella ^a  

^a SAPIENZA UNIVERSITY OF ROME   (Italy)

^b INRCA   (Italy)

Author keywords

Adrenergic receptor 2 gene; Body mass index; Haplotype; LDL cholesterol; Obesity; Triglycerides

Indexed keywords

ARGININE; BETA 2 ADRENERGIC RECEPTOR; CYSTEINE; GLUTAMIC ACID; GLUTAMINE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL;

ADULT; ARTICLE; BODY MASS; CONTROLLED STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC CODE; GENOTYPE; HAPLOTYPE; HOMOZYGOSITY; HUMAN; LINEAR REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MALE; METABOLIC DISORDER; OBESITY; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM; BLOOD; COHORT ANALYSIS; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC POLYMORPHISM; GENETICS; ITALY;

CHOLESTEROL, LDL; COHORT STUDIES; FEMALE; GENE FREQUENCY; HAPLOTYPES; HUMANS; ITALY; LINKAGE DISEQUILIBRIUM; MALE; OBESITY; OVERWEIGHT; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); RECEPTORS, ADRENERGIC, BETA-2; TRIGLYCERIDES;

EID: 29644442452     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201521     Document Type: Article

References (39)

1. Insel PA: Seminars in medicine of the Beth Israel Hospital, Boston. Adrenergic receptors evolving concepts and clinical implications (Review). N Engl J Med 1996; 334: 580-585.
2. Yamada K, Ishiyama-Shigemoto S, Ichikawa F et al: Polymorphism in the 5′-leader cistron of the beta2-adrenergic receptor gene associated with obesity and type 2 diabetes. J Clin Endocrinol Metab 1999; 84: 1754-1757.
3. Ishiyama-Shigemoto S, Yamada K, Yuan X, Ichikawa F, Nonaka K: Association of polymorphisms in the beta2-adrenergic receptor gene with obesity, hypertriglyceridaemia, and diabetes mellitus. Diabetologia 1999; 42: 98-101.
4. Dallongeville J, Helbecque N, Cottel D, Amouyel P, Meirhaeghe A: The Gly16 → Arg16 and Gln27 → Glu27 polymorphisms of beta2-adrenergic receptor are associated with metabolic syndrome in men. J Clin Endocrinol Metab 2003; 88: 4862-4866.
5. Bray MS, Boerwinkle E: The role of beta(2)-adrenergic receptor variation in human hypertension (Review). Curr Hypertens Rep 2000; 2: 39-43.
6. Pereira AC, Floriano MS, Mota GF et al: Beta2 adrenoceptor functional gene variants, obesity, and blood pressure level interactions in the general population. Hypertension 2003; 42: 685-692.
7. Liggett SB: Pharmaconenetics of beta1 and beta2 adrenergic receptors. Pharmacology 2000; 61: 167-173.
8. Green SA, Cole G, Jacinto M, Innis M, Liggett SB: A polymorphism of the human beta 2-adrenergic receptor within the fourth transmembrane domain alters ligand binding and functional properties of the receptor. J Biol Chem 1993; 268: 23116-23121.
9. Green SA, Liggett SB: A proline-rich region of the third intracellular loop imparts phenotypic beta 1-versus beta 2-adrenergic receptor coupling and sequestration. J Biol Chem 1994; 269: 26215-26219.
10. Green SA, Turki J, Bejarano P, Hall IP, Liggett SB: Influence of beta2-adrenergic receptor genotypes on signal trasduction in human airway smooth muscle cells. Am J Respir Cell Mol Biol 1995; 13: 25-33.
11. McGraw DW, Forbes SL, Kramer LA, Liggett SB: Polymorphisms of the 5′ leader cistron of the human beta2-adrenergic receptor regulate receptor expression. J Clin Invest 1998; 102: 1927-1932.
12. Moore PE, Laporte JD, Abraham JH et al: Polymorphism of the beta(2)-adrenergic receptor gene and desensitization in human airway smooth muscle. Am J Respir Crit Care Med 2000; 162: 2117-2124.
13. Echwald SM, Sorensen TI, Tybjaerg-Hansen A, Andersen T, Pedersen O: Gln27Glu variant of the human beta2-adrenoreceptor gene is not associated with early-onset obesity in Danish men. Diabetes 1998; 47: 1657-1658.
14. Hellstrom L, Large V, Reynisdottir S, Wahrenberg H, Arner P: The different effects of a Gln27Glu beta 2-adrenoceptor gene polymorphism on obesity in males and in females. J Intern Med 1999; 245: 253-259.
15. Kortner B, Wolf A, Wendt D, Beisiegel U, Evans D: Lack of association between a human beta-2 adrenoceptor gene polymorphism (gln27glu) and morbid obesity (Short Communication). Int J Obes 1999; 23: 1099-1100.
16. Hayacawa T, Nagai Y, Kahara T et al: Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene are not associated with obesity in Japanese man. Metabolism 2000; 49: 1215-1218.
17. Oberkofler H, Esterbauer H, Hell E, Krempler F, Patsch W: The Gln27Glu polymorphism in the beta2 adrenergic receptor gene is not associated with morbid obesity in Austrian women. Int J Obes Rel Met Disord 2000; 24: 388-390.
18. Ukkola O, Rankinen T, Weisnagel SJ et al: Interactions among the alpha2-, beta2-, and beta3-adrenergic receptor genes and obesity-related phenotypes in the Quebec Family Study. Metabolism 2000; 49: 1063-1070.
19. Carlsson M, Orho-Melander M, Hedenbro J, Groop LC: Common variants in the beta2-(Gln27Glu) and beta3-(Trp64Arg) adrenoceptor genes are associated with elevated serum NEFA concentrations and type 2 diabetes. Diabetologia 2001; 44: 629-636.
20. 2-adrenergic receptor gene is not associated with obesity and diabetes in Japanese-Americans. Metabolism 2001; 50: 443-446.
21. Expert Committee on the Diagnosis and Classification of Diabetes Mellitus: Report of the Expert Committee on the Diagnosis and Classification of Diabetes Mellitus. Diabetes Care 2000; 1 (Suppl 23): S4-S19.
22. Friedewald WT, Levy RJ, Fredrickson DS: Estimation of the concentration of low-density-lipoprotein cholesterol in plasma without use of the preparative ultracentrifuge. Clin Chem 1972; 18: 499-502.
23. Gorden P, Lesniak MA, Hendricks CM, Roth J: 'Big' growth hormone components from human plasma: Decreased reactivity demonstrated by radioreceptor assay. Science 1973; 182: 829-831.
24. Matthews DR, Hosker JP, Rudenski AS, Naylor BA, Treacher DF, Turner RC: Homeostasis model assessment: Insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985; 28: 412-419.
25. Treégouet DA, Escolano S, Tiret L, Mallet A, Golmard JL: New algorithm for haplotype based association analysis: The Stochastic-EM algorithm. Ann Hum Gen 2004; 68: 165-177.
26. Trégouet DA, Barbaux S, Escolano S et al: Specific haplotypes of the P Selectin gene are associated with myocardial infarction. Hum Mol Genet 2002; 11: 2015-2023.
27. Meirhaeghe A, Helbecque N, Cottel D, Amouyel P: Impact of polymorphisms of the human beta2-adrenoceptor gene on obesity in a French population. Int J Obes Relat Metab Disord 2000; 24: 382-387.
28. Corbalan MS, Marti A, Forga L, Martinez-Gonzalez MA, Martinez JA: b2-Adrenergic receptor mutation and abdominal obesity risk: Effect modification by gender and HDL- cholesterol. Eur J Nutr 2002; 41: 114-118.
29. 2-adrenoceptor gene is associated with abdominal obesity and greater risk of impaired glucose tolerance in men but not in women: A population-based study Spain. Clin Endocrinol 2003; 59: 476-481.
30. 2-adrenargic receptor variant is associated with hypetriglyceridaemia and the development of fatty liver. Clinica Chimica Acta 2001; 314: 85-91.
31. Ehrenborg E, Skogsberg J, Ruotolo G et al: The Q/E27 polymorphism in the beta2-adrenoceptor gene is associated with increased body weight and dyslipoproteinaemia involving triglyceride-rich lipoproteins. J Intern Med 2000; 247: 651-656.
32. Tomaszewski M, Charchar FJ, Lacka B et al: Epistatic interaction between beta2-adrenergic receptor and neuropeptide Y genes influences LDL-cholesterol in hypertension. Hypertension 2004; 44: 689-694.
33. Eriksson P, Dahlman I, Ryden M, Hoffstedt J, Arner P: Relationship between b-2 adrenoceptor gene haplotypes and adipocyte lipolysis in women. Int J Obes 2004; 28: 185-190.
34. Drysdale CM, Mc Graw DW, Stephans JC et al: Complex promoter and coding region beta2-adrenergic receptor haplotype alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci USA 2000; 97: 10483-10488.
35. Parola AL, Kobilka BK: The peptide product of a 5′ leader cistron in the beta 2 adrenergic receptor mRNA inhibits receptor synthesis. J Biol Chem 1994; 269: 4497-4505.
36. Large V, Hellstrom L, Reynisdottir S et al: Human beta-2 adrenoceptor gene polymorphisms are highly frequent in obesity and associate with altered adipocyte beta-2 adrenoceptor function. J Clin Invest 1997; 100: 3005-3013.
37. Arner P, Wahrenberg H, Lonnqvist F, Angelin B: Adipocyte beta-adrenoceptor sensitivity influences plasma lipid levels. Arterioscler Thromb 1993; 13: 967-972.
38. Chong LK, Chowdry J, Ghahramani P, Peachell PT: Influence of genetic polymorphisms in the beta2-adrenoceptor on desensitization in human lung mast cells. Pharmacogenetics 2000; 10: 153-162.
39. Petraglia A, Scarpitta M, Ansalone D et al: Negligible metabolic effects of long-term oral treatment with a new beta 2-agonist: Broxaterol. Int J Clin Pharmacol Res 1990; 10: 299-304.