Genetic polymorphisms of human β-adrenergic receptor genes and their association with obesity

Journal of Central South University (Medical Sciences)

Volumn 32, Issue 3, 2007, Pages 359-367

  Liu, Zhao Qian ^a   Mo, Wei ^a   Huang, Qiong ^a   Zhou, Hong Hao ^a  

^a Central South University   (China)

Author keywords

adrenergic receptor; Haplotype; Lipolysis; Obesity; Single nucleotide polymorphism

Indexed keywords

ADRENERGIC RECEPTOR; BETA 1 ADRENERGIC RECEPTOR; BETA 2 ADRENERGIC RECEPTOR; BETA 3 ADRENERGIC RECEPTOR;

GENETICS; HUMAN; MISSENSE MUTATION; OBESITY; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

HUMANS; MUTATION, MISSENSE; OBESITY; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, ADRENERGIC; RECEPTORS, ADRENERGIC, BETA-1; RECEPTORS, ADRENERGIC, BETA-2; RECEPTORS, ADRENERGIC, BETA-3;

EID: 34547326507     PISSN: 16727347     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (68)

1. Kopelman P G. Obesity as a medical problem[J]. Nature, 2000, 404 (6778) : 635-643.
2. Obesity : preventing and managing the global epidemic. Report of a WHO consultation[J]. World Health Organization technical report series, 2000, 894 : i-xii, 1-253.
3. Bouchard C. Long-term programming of body size [J]. Nutrition reviews, 1996, 54 (2 Pt 2) : S8-16.
4. Lafontan M, Berlan M. Fat cell adrenergic receptors and the control of white and brown fat cell function[J]. J Lipid Res, 1993, 34 (7) : 1057-1091.
5. Arch J R, Kaumann A J. Beta 3 and atypical beta-adrenoceptors [J]. Med Res Rev, 1993, 13(6) : 663-729. (Review)
6. Young J B, Macdonald I A. Sympathoadrenal activity in human obesity : heterogeneity of findings since 1980[J]. Int J Obes Relat Metab Disord, 1992, 16(12) : 959-967.
7. Spraul M, Ravussin E, Fontvieille A M, et al. Reduced sympathetic nervous activity. A potential mechanism predisposing to body weight gain[J]. J Clin Invest, 1993, 92(4) : 1730-1735.
8. Scherrer U, Randin D, Tappy L, et al. Body fat and sympathetic nerve activity in healthy subjects[J]. Circulation, 1994, 89(6) : 2634-2640.
9. Macdonald I A. Advances in our understanding of the role of the sympathetic nervous system in obesity[J]. Int J Obes Rélat Metab Disord, 1995, 19(Suppl 7) : S2-S7.
10. Rathz D A, Brown K M, Kramer L A, et al. Amino acid 49 polymorphisms of the human beta1-adrenergic receptor affect agonist-promoted trafficking[J]. J Cardiovasc Pharmacol, 2002, 39(2) : 155-160.
11. Carlsson M, Orho-Melander M, Hedenbro J, et al. Common variants in the beta2-(Gln27Glu) and beta3-(Trp64Arg) - adrenoceptor genes are associated with elevated serum NEFA concentrations and type II diabetes [J]. Diabetologia, 2001, 44 (5) : 629-636.
12. Dionne I J, Turner A N, Tcheraof A, et al. Identification of an interactive effect of beta3- and alpha2b-adrenoceptor gene polymorphisms on fat mass in Caucasian women[J]. Diabets, 2001, 50 (1) : 91-95.
13. Frielle T, Daniel K W, Caron M G, et al. Structural basis of beta-adrenergic receptor subtype specificity studied with chimeric beta 1/beta 2-adrenergic receptors [J]. Proc Nad Acad Sci USA, 1988, 85(24) : 9494-9498.
14. Liggett S B. Polymorphisms of the beta2-adrenergic receptor and asthma[J]. Am J Respir Crit Care Med, 1997, 156(4 Pt 2) : S156-162
15. Mason D A, Moore J D, Green S A, et al. A gain-of-function polymorphism in a G-protein coupling domain of the human beta1-adrenergic receptor [J]. J Biol Chem, 1999, 274 (18) : 12670-12674.
16. Green S A, Turki J, Innis M, et al. Amino-terminal polymorphisms of the human beta 2-adrenergic receptor impart distinct agonist-promoted regulatory properties [J]. Biochemistry, 1994, 33 (32) : 9414-9419.
17. Pietri-Rouxel F, St John Manning B, Gros J, et al. The biochemical effect of the naturally occurring Trp64-Arg mutation on human beta3-adrenoceptor activity[J]. Eur J Biochem/FEBS, 1997, 247 (3) : 1174-1179.
18. Frielle T, Collins S, Daniel K W, et al. Cloning of the cDNA for the human beta 1-adrenergic receptor [J]. Proc Natl Acad USA, 1987, 84(22) : 7920-7924.
19. Maqbool A, Hall A S, Ball S G, et al. Common polymorphisms of beta1-adrenoceptor : identification and rapid screening assay [J]. Lancet, 1999, 353(9156) : 897.
20. Podlowski S, Wenzel K, Luther HP, et al. Beta1-adrenoceptor gene variations: a role in idiopathic dilated cardiomyopathy? [J]. J Mol Med, 2000, 78(2) : 87-93.
21. Liu J, Liu Z Q, Tan ZR, et al. Gly389Arg polymorphism of beta1-adrenergic receptor is associated with the cardiovascular response to metoprolol [J]. Clin Pharmacol Ther, 2003, 74(4) : 372-379.
22. Johnson J A, Terra S G. Beta-adrenergic receptor polymorphisms: cardiovascular disease associations and pharmacogenetics [J]. Pharm Res, 2002, 19(12) : 1779-1787.
23. Arner P. Genetic variance and lipolysis regulation : implications for obesity[J]. Ann Med, 2001, 33(8) : 542-546.
24. Ryden M, Hoffstedt J, Eriksson P, et al. The Arg 389 Gly beta1-adrenergic receptor gene polymorphism and human fat cell lipolysis [J]. Int J Obes Relat Metab Disord, 2001, 25(11) : 1599-1603.
25. Dionne I J, Garant M J, Nolan A A, et al. Association between obesity and a polymorphism in the beta (1) -adrenoceptor gene (Gly389Arg ADRB1) in Caucasian women[J]. Int J Obes Relat Metab Disord, 2002, 26(5) : 633-639.
26. Liggett SB. Polymorphisms of the beta2-adrenergic receptor and asthma[J]. Am J Respir Crit Care Med, 1997, 156(4 Pt 2) : S156-162.
27. Green S A, Turki J, Bejarano P, et al. Influence of beta 2-adrenergic receptor genotypes on signal transduction in human airway smooth muscle cells[J]. Am J Res Cell Mol Biol, 1995, 13(1) : 25-33.
28. 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]. J Clin Invest, 1997, 100(12) : 3005-3013.
29. Chong L K, Chowdry J, Ghahramani P, et al. Influence of genetic polymorphisms in the beta2-adrenoceptor on desensitization in human lung mast cells[J]. Pharmacogenetics, 2000, 10(2) : 153-162.
30. Green S A, Cole G, Jacinto M, et al. A polymorphism of the human beta 2-adrenergic receptor within the fourth transmembrane domain alters ligand binding and functional properties of the receptor [J]. J Biol Chem, 1993, 268(31) : 23116-23121.
31. McGraw D W, Forbes S L, Kramer LA, et al. Polymorphisms of the 5′ leader cistron of the human beta2-adrenergic receptor regulate receptor expression[J]. J Clin Invest, 1998, 102(11) : 1927-1932.
32. Scott M G, Mougey E B, David C J, et al. Identification of novel polymorphisms within the promoter region of the human beta2 adrenergic receptor gene [J] . Am J Pharmacogenomics, 1999, 126 (4) : 841-844.
33. Wang J, Mougey E B, David CJ, et al. Determination of human beta(2)-adrenoceptor haplotypes by denaturation selective amplification and subtractive genotyping [J]. Am J Pharmacogenomics, 2001, 1(4) : 315-322.
34. Drysdale C M, McGraw D W, Stack C B, et al. Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness [J]. Proc Natl Acad Sci USA, 2000, 97(19) : 10483-10488.
35. Dewar J C, Wheatley A P, Venn A, et al. Beta2-adrenoceptor polymorphisms are in linkage disequilibrium, but are not associated with asthma in an adult population[J]. Clin Exp Allergy, 1998, 28(4) : 442448.
36. Xie H G, Stein C M, Kim RB, et al. Frequency of functionally important beta-2 adrenoceptor polymorphisms varies markedly among African-American, Caucasian and Chinese individuals [J]. Pharmacogenetics, 1999, 9(4) : 511-516.
37. 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]. J Internal Med, 2000, 247(6) : 651-656.
38. Hellstrom L, Large V, Reynisdottir S, et al. The different effects of a Gln27Glu beta 2-adrenoceptor gene polymorphism on obesity in males and in females[J]. J Intern Med, 1999, 245(3) : 253-259.
39. Ishiyama-Shigemoto S, Yamada K, Yuan X, et al. Association of polymorphisms in the beta2-adrenergic receptor gene with obesity, hypertriglyceridaemia, and diabetes mellitus [J]. Diabetologia, 1999, 42(1) : 98-101.
40. Mori Y, Kim-Motoyama H, Ito Y, et al. The Gln27Glu beta2-adrenergic receptor variant is associated with obesity due to subcutaneous fat accumulation in Japanese men[J]. Biochem Biophys Res Commun, 1999, 258(1) : 138-140.
41. Meirhaeghe A, Helbecque N, Cottel D, et al. Beta2-adrenoceptor gene polymorphism, body weight, and physical activity [J]. Lancet, 1999, 353(9156) : 896.
42. Corbalan M S, Marti A, Forga L, et al. The 27Glu polymorphism of the beta2-adrenergic receptor gene interacts with physical activity influencing obesity risk among female subjects [J]. Clin Genet, 2002, 61(4) : 305-307.
43. Hayakawa T, Nagai Y, Kahara T, et al. Gln27Glu and Arg16Gly polymorphisms of the beta2-adrenergic receptor gene are not associated with obesity in Japanese men [J]. Metabolism, 2000, 49 (9) : 1215-1218.
44. Ellsworth D L, Coady S A, Chen W, et al. Influence of the beta2-adrenergic receptor Arg16Gly polymorphism on longitudinal changes in obesity from childhood through young adulthood in a biracial cohort : the Bogalusa Heart Study [J]. Int J Obes Relat Metab Disord, 2002, 26(7) : 928-937.
45. Mo W, Zhang G G, Yang T L, et al. The genetic polymorphisms of beta3-adrenergic receptor (AR) Trp64Arg and beta2-AR Gln27Glu are associated with obesity in Chinese male hypertensive patients[J]. Clin Chem Lab Med, 2007, 45(4) : 493498.
46. Mo W, LIU J, ZHOU H H, et al. Study on the relationship between genetic polymorphisms of the β2-adrenoceptor and obesity in hypertensive patients [J]. Chin Pharmacol Bull, 2006, 22 (2) : 154-159.
47. 3-adrenoceptor and obesity and hypertension[J]. Chinese Modern Medicine, 2006, 16(12) : 1811-1814.
48. Granneman J G, Lahners K N, Chaudhry A. Characterization of the human beta 3-adrenergic receptor gene[J]. Mol Pharmacol, 1993, 44(2) : 264-270.
49. Thomas R F, Holt B D, Schwinn D A, et al. Long-term agonist exposure induces upregulation of beta 3-adrenergic receptor expression via multiple cAMP response elements[J]. Proc Natl Acad Sci USA, 1992, 89(10) : 4490-4494.
50. Walston J, Silver K, Bogardus C, et al. Time of onset of non-insulin-dependent diabetes mellitus and genetic variation in the beta 3-adrenergic-receptor gene[J]. N Engl J Med, 1995, 333(6) : 343-347.
51. Candelore M R, Deng L, Tota LM, et al. Pharmacological characterization of a recently described human beta 3-adrenergic receptor mutant[J]. Endocrinology, 1996, 137(6) : 2638-2641.
52. Pietri-Rouxel F, St John Manning B, Gros J, et al. The biochemical effect of the naturally occurring Trp64-Arg mutation on human beta3-adrenoceptor activity[J]. Eur J Biochem/FEBS, 1997, 247 (3) : 1174-1179.
53. Hoffstedt J, Poirier O, Thorne A, et al. Polymorphism of the human beta3-adrenoceptor gene forms a well-conserved haplotype that is associated with moderate obesity and altered receptor function [J]. Diabetes, 1999, 48(1) : 203-205.
54. Umekawa T, Yoshida T, Sakane N, et al. Trp64Arg mutation of beta3-adrenoceptor gene deteriorates lipolysis induced by beta3-adrenoceptor agonist in human omental adipocytes [J]. Diabetes, 1999, 48(1) : 117-120.
55. Sipilainen R, Uusitupa M, Heikkinen S, et al. Polymorphism of the beta3-adrenergic receptor gene affects basal metabolic rate in obese Finns[J]. Diabetes, 1997, 46(1) : 77-80.
56. Tchernof A, Starling R D, Walston J D, et al. Obesity-related phenotypes and the beta3-adrenoceptor gene variant in postmenopausal women [J]. Diabetes, 1999, 48(7) : 1425-1428.
57. Lafontan M, Berlan M. Fat cell adrenergic receptors and the control of white and brown fat cell function[J]. J Lipid Res, 1993, 34(7) : 1057-1091.
58. Clement K, Vaisse C, Manning B S, et al. Fat cell adrenergic receptors and the control of white and brown fat cell function increased capacity to gain weight in patients with morbid obesity[J]. N Engl J Med, 1995, 333 : 352-354.
59. Zhang Y, Wat N, Stratton I M, et al. UKPDS 19 : heterogeneity in NIDDM: separate contributions of IRS-1 and beta 3-adrenergic-receptor mutations to insulin resistance and obesity respectively with no evidence for glycogen synthase gene mutations. UK Prospective Diabetes Study[J]. Diabetologia, 1996, 39(12) : 1505-1511.
60. Yoshioka K, Yoshida T, Sakane N, et al. Association of Trp64Arg mutation of the beta 3-adrenergic receptor gene with NIDDM, current and maximal body mass index[J]. Diabetologia, 1996, 39 (11) : 1410-1411.
61. Strazzullo P, Iacone R, Siani A, et al. Relationship of the Trp64Arg polymorphism of the beta3-adrenoceptor gene to central adiposity and high blood pressure : interaction with age. Cross-sectional and longitudinal findings of the Olivetti Prospective Heart Study[J]. J Hyperten, 2001, 19(3) : 399-406.
62. Arashiro R, Katsuren K, Fukuyama S, et al. Effect of Trp64Arg mutation of the beta3-adrenergic receptor gene and C161T substitution of the peroxisome proliferator activated receptor gamma gene on obesity in Japanese children[J]. Pediatr Int, 2003, 45(2) : 135-141.
63. Gagnon J, Mauriege P, Roy S, et al. The Trp64Arg mutation of the beta3 adrenergic receptor gene has no effect on obesity phenotypes in the Quebec Family Study and Swedish Obese Subjects cohorts [J]. J Clin Invest, 1996, 98(9) : 2086-2093.
64. Xinli W, Xiaomei T, Meihua P, et al. Association of a mutation in the beta3-adrenergic receptor gene with obesity and response to dietary intervention in Chinese children[J]. Acta Paediatr, 2001, 90(11) : 1233-1237.
65. Garenc C, Perusse L, Rankinen T, et al. The Trp64Arg polymorphism of the beta3-adrenergic receptor gene is not associated with training-induced changes in body composition : The HERITAGE Family Study[J]. Obes Res, 2001, 9(6) : 337-341.
66. Ito M, Grujic D, Abel E D, et al. Mice expressing human but not murine beta3-adrenergic receptors under the control of human gene regulatory elements[J]. Diabetes, 1998, 47(9) : 1464-1471.
67. Marti A, Corbalan M S, Martinez-Gonzalez M A, et al. Trp64Arg polymorphism of the beta 3-adrenergic receptor gene and obesity risk : effect modification by a sedentary lifestyle[J]. Diabetes Obes Metab, 2002, 4(6) : 428-430.
68. Malczewska-Malec M, Wybranska I, Leszczynska-Golabek I, et al. An analysis of the link between polymorphisms of the beta2 and beta3 adrenergic receptor gene and metabolic parameters among Polish Caucasians with familial obesity[J]. Med Sci Monit, 2003, 9(6) : CR225-234.