Complex HTR2C linkage disequilibrium and promoter associations with body mass index and serum leptin

Human Genetics

Volumn 117, Issue 6, 2005, Pages 545-557

  McCarthy, Shane ^a   Mottagui Tabar, Salim ^a   Mizuno, Yumi ^a   Sennblad, Bengt ^a,c   Hoffstedt, Johan ^b   Arner, Peter ^b   Wahlestedt, Claes ^a   Andersson, Björn ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^c STOCKHOLM UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

LEPTIN; NUCLEOTIDE; SEROTONIN 2C RECEPTOR;

ADULT; AGED; ANIMAL CELL; ARTICLE; BODY FAT; BODY MASS; DNA FLANKING REGION; EATING DISORDER; EXON; GENE; GENE EXPRESSION; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HTR2C GENE; HUMAN; HUMAN EXPERIMENT; MALE; MICROSATELLITE MARKER; MOUSE; NONHUMAN; NORMAL HUMAN; OBESITY; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SEROTONINERGIC SYSTEM; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; BODY MASS INDEX; HUMANS; LEPTIN; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; OBESITY; POLYMORPHISM, SINGLE NUCLEOTIDE; PROMOTER REGIONS (GENETICS); RECEPTOR, SEROTONIN, 5-HT2C;

ANIMALIA;

EID: 27544454031     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00439-005-1328-6     Document Type: Article

References (70)

1. Andolfatto P, Nordborg M (1998) The effect of gene conversion on intralocus associations. Genetics 148:1397-1399
2. Ardlie KG, Kruglyak L, Seielstad M (2002) Patterns of linkage disequilibrium in the human genome. Nat Rev Genet 3:299-309
3. Atmaca M, Kuloglu M, Tezcan E, Ustundag B (2003) Serum leptin and triglyceride levels in patients on treatment with atypical antipsychotics. J Clin Psychiatr 64:598-604
4. Buckland PR, Hoogendoorn B, Guy CA, Smith SK, Coleman SL, O'Donovan M C (2005) Low gene expression conferred by association of an allele of the 5-HT2C receptor gene with antipsychotic-induced weight gain. Am J Psychiatry 162:613-615
5. Burnet PW, Harrison PJ, Goodwin GM, Battersby S, Ogilvie AD, Olesen J, Russell MB (1997) Allelic variation in the serotonin 5-HT2C receptor gene and migraine. Neuroreport 8:2651-2653
6. Burnet PW, Smith KA, Cowen PJ, Fairburn CG, Harrison PJ (1999) Allelic variation of the 5-HT2C receptor (HTR2C) in bulimia nervosa and binge eating disorder. Psychiatr Genet 9:101-104
7. Cardon LR, Bell JI (2001) Association study designs for complex diseases. Nat Rev Genet 2:91-99
8. Clark AG, Weiss KM, Nickerson DA, Taylor SL, Buchanan A, Stengard J, Salomaa V, Vartiainen E, Perola M, Boerwinkle E, Sing CF (1998) Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet 63:595-612
9. Deckert J, Meyer J, Catalano M, Bosi M, Sand P, DiBella D, Ortega G, Stober G, Franke P, Nothen MM, Fritze J, Maier W, Beckmann H, Propping P, Bellodi L, Lesch KP (2000) Novel 5'-regulatory region polymorphisms of the 5-HT2C receptor gene: association study with panic disorder. Int J Neuropsychopharmacol 3:321-325
10. Drysdale CM, McGraw DW, Stack CB, Stephens JC, Judson RS, Nandabalan K, Arnold K, Ruano G, Liggett SB (2000) Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness. Proc Natl Acad Sci USA 97:10483-10488
11. Ewens WJ (1972) The sampling theory of selectively neutral alleles. Theor Popul Biol 3:87-112
12. Ewing B, Green P (1998) Base-calling of automated sequencer traces using phred. II. Error probabilities. Genome Res 8:186-194
13. Ewing B, Hillier L, Wendl MC, Green P (1998) Base-calling of automated sequencer traces using phred I accuracy assessment. Genome Res 8: 175-185
14. Finn PD, Cunningham MJ, Rickard DG, Clifton DK, Steiner RA (2001) Serotonergic neurons are targets for leptin in the monkey. J Clin Endocrinol Metab 86:422-426
15. Frisse L, Hudson RR, Bartoszewicz A, Wall JD, Donfack J, Di Rienzo A (2001) Gene conversion and different population histories may explain the contrast between polymorphism and linkage disequilibrium levels. Am J Hum Genet 69:831-843
16. Fu YX (1997) Statistical tests of neutrality of mutations against population growth, hitchhiking and background selection. Genetics 147: 915-925
17. Fu YX, Li WH (1993) Statistical tests of neutrality of mutations. Genetics 133:693-709
18. Gauderman WJ (2002) Sample size requirements for matched case-control studies of gene-environment interaction. Stat Med 21:35-50
19. Glatt CE, DeYoung JA, Delgado S, Service SK, Giacomini KM, Edwards RH, Risch N, Freimer NB (2001) Screening a large reference sample to identify very low frequency sequence variants:cOmparisons between two genes. Nat Genet 27:435-438
20. Glatt CE, Tampilic M, Christie C, DeYoung J, Freimer NB (2004) Re-screening serotonin receptors for genetic variants identifies population and molecular genetic complexity. Am J Med Genet 124B: 92-100
21. Gordon D, Abajian C, Green P (1998) Consed: A graphical tool for sequence finishing. Genome Res 8:195-202
22. Gutierrez B, Fananas L, Arranz MJ, Valles V, Guillamat R, van Os J, Collier D (1996) Allelic association analysis of the 5-HT2C receptor gene in bipolar affective disorder. Neurosci Lett 212:65-67
23. DL Hartl AG Clark 1997 Principles of population genetics 3 Sinauer Sunderland
24. Hill W, Robertson A (1968) Linkage disequilibrium in finite populations. Theor Appl Genet 38:226-239
25. Howell WM, Jobs M, Gyllensten U, Brookes AJ (1999) Dynamic allele-specific hybridization A new method for scoring single nucleotide polymorphisms. Nat Biotechnol 17:87-88
26. Huang XF, Huang X, Han M, Chen F, Storlien L, Lawrence AJ (2004) 5-HT(2A/ 2C) receptor and 5-HT transporter densities in mice prone or resistant to chronic high-fat diet-induced obesity: A quantitative autoradiography study. Brain Res 1018:227-235
27. Hudson RR (1987) Estimating the recombination parameter of a finite population model without selection. Genet Res 50:245-250
28. Hudson RR, Kaplan NL (1985) Statistical properties of the number of recombination events in the history of a sample of DNA sequences. Genetics 111:147-164
29. Jaruzelska J, Zietkiewicz E, Batzer M, Cole DE, Moisan JP, Scozzari R, Tavare S, Labuda D (1999) Spatial and temporal distribution of the neutral polymorphisms in the last ZFX intron: Analysis of the haplotype structure and genealogy. Genetics 152:1091-1101
30. Lappalainen J, Long JC, Virkkunen M, Ozaki N, Goldman D, Linnoila M (1999) HTR2C Cys23Ser polymorphism in relation to CSF monoamine metabolite concentrations and DSM-III-R psychiatric diagnoses. Biol Psychiatr 46:821-826
31. Lappalainen J, Zhang L, Dean M, Oz M, Ozaki N, Yu DH, Virkkunen M, Weight F, Linnoila M, Goldman D (1995) Identification, expression, and pharmacology of a Cys23-Ser23 substitution in the human 5-HT2c receptor gene (HTR2C). Genomics 27:274-279
32. Lentes KU, Hinney A, Ziegler A, Rosenkranz K, Wurmser H, Barth N, Jacob K, Coners H, Mayer H, Grzeschik KH, Schafer H, Remschmidt H, Pirke KM, Hebebrand J (1997) Evaluation of a Cys23Ser mutation within the human 5-HT2C receptor gene: No evidence for an association of the mutant allele with obesity or underweight in children, adolescents and young adults. Life Sci 61:PL9-16
33. Lewontin RC (1964) The interaction of selection and linkage. I. General considerations; heterotic models. Genetics 49:49-67
34. Lindstrom M, Isacsson SO, Merlo J (2003) Increasing prevalence of overweight, obesity and physical inactivity: Two population-based studies 1986 and 1994. Eur J Public Health 13:306-312
35. Meyer J, Saam W, Mossner R, Cangir O, Ortega GR, Tatschner T, Riederer P, Wienker TF, Lesch KP (2002) Evolutionary conserved microsatellites in the promoter region of the 5-hydroxytryptamine receptor 2C gene (HTR2C) are not associated with bipolar disorder in females. J Neural Trans 109:939-946
36. Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215
37. Nachman MW, Bauer VL, Crowell SL, Aquadro CF (1998) DNA variability and recombination rates at X-linked loci in humans. Genetics 150:1133-1141
38. M Nei 1987 Molecular evolutionary genetics Columbia University Press New York
39. Nickerson DA, Taylor SL, Weiss KM, Clark AG, Hutchinson RG, Stengard J, Salomaa V, Vartiainen E, Boerwinkle E, Sing CF (1998) DNA sequence diversity in a 9.7-kb region of the human lipoprotein lipase gene. Nat Genet 19:233-240
40. Nonogaki K, Strack AM, Dallman MF, Tecott LH (1998) Leptin-independent hyperphagia and type 2 diabetes in mice with a mutated serotonin 5-HT2C receptor gene. Nat Med 4:1152-1156
41. Parsian A, Cloninger CR (2001) Serotonergic pathway genes and subtypes of alcoholism: Association studies. Psychiatr Genet 11:89-94
42. Pooley EC, Fairburn CG, Cooper Z, Sodhi MS, Cowen PJ, Harrison PJ (2004) A 5-HT2C receptor promoter polymorphism (HTR2C-759C/T) is associated with obesity in women, and with resistance to weight loss in heterozygotes. Am J Med Genet 126B:124-127
43. Quested DJ, Whale R, Sharpley AL, McGavin CL, Crossland N, Harrison PJ, Cowen PJ (1999) Allelic variation in the 5-HT2C receptor (HTR2C) and functional responses to the 5-HT2C receptor agonist, m-chlorophenylpiperazine. Psychopharmacology (Berl) 144:306-307
44. Reynolds GP, Zhang Z, Zhang X (2003) Polymorphism of the promoter region of the serotonin 5-HT(2C) receptor gene and clozapine-induced weight gain. Am J Psychiatry 160:677-679
45. Rieder MJ, Taylor SL, Clark AG, Nickerson DA (1999) Sequence variation in the human angiotensin converting enzyme. Nat Genet 22:59-62
46. Rozas J, Gullaud M, Blandin G, Aguade M (2001) DNA variation at the rp49 gene region of Drosophila simulans: evolutionary inferences from an unusual haplotype structure. Genetics 158:1147-1155
47. Rozas J, Rozas R (1999) DnaSP version 3: An integrated program for molecular population genetics and molecular evolution analysis. Bioinformatics 15:174-175
48. Rozas J, Sanchez-DelBarrio JC, Messeguer X, Rozas R (2003) DnaSP, DNA polymorphism analyses by the coalescent and other methods. Bioinformatics 19:2496-2497
49. J Sambrook W Russell David 2001 Molecular cloning : A laboratory manual 3 Cold Spring Harbor Laboratory Press Cold Spring Harbor
50. Sandelin A, Alkema W, Engstrom P, Wasserman WW, Lenhard B (2004) JASPAR: an open-access database for eukaryotic transcription factor binding profiles. Nucleic Acids Res 32, database issue:D91-94
51. Sargent PA, Sharpley AL, Williams C, Goodall EM, Cowen PJ (1997) 5-HT2C receptor activation decreases appetite and body weight in obese subjects. Psychopharmacology (Berl) 133:309-312
52. Schaffhauser AO, Madiehe AM, Braymer HD, Bray GA, York DA (2002) Effects of a high-fat diet and strain on hypothalamic gene expression in rats. Obes Res 10:1188-1196
53. Slatkin M, Excoffier L (1996) Testing for linkage disequilibrium in genotypic data using the expectation-maximization algorithm. Heredity 76:377-383
54. Stephens M, Donnelly P (2003) A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet 73:1162-1169
55. Stephens M, Smith NJ, Donnelly P (2001) A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 68:978-989
56. Strobeck C (1987) Average number of nucleotide differences in a sample from a single subpopulation: A test for population subdivision. Genetics 117:149-153
57. Taillon-Miller P, Bauer-Sardina I, Saccone NL, Putzel J, Laitinen T, Cao A, Kere J, Pilia G, Rice JP, Kwok PY (2000) Juxtaposed regions of extensive and minimal linkage disequilibrium in human Xq25 and Xq28. Nat Genet 25:324-328
58. Tajima F (1989) Statistical method for testing the neutral mutation hypothesis by DNA polymorphism. Genetics 123:585-595
59. Tecott LH, Sun LM, Akana SF, Strack AM, Lowenstein DH, Dallman MF, Julius D (1995) Eating disorder and epilepsy in mice lacking 5-HT2c serotonin receptors. Nature 374:542-546
60. Watterson GA (1975) On the number of segregating sites in genetical models without recombination. Theor Popul Biol 7:256-76
61. Weiss KM, Clark AG (2002) Linkage disequilibrium and the mapping of complex human traits. Trends Genet 18:19-24
62. Westberg L, Bah J, Rastam M, Gillberg C, Wentz E, Melke J, Hellstrand M, Eriksson E (2002) Association between a polymorphism of the 5-HT2C receptor and weight loss in teenage girls. Neuropsychopharmacology 26:789-793
63. Vickers SP, Clifton PG, Dourish CT, Tecott LH (1999) Reduced satiating effect of d-fenfluramine in serotonin 5-HT(2C) receptor mutant mice. Psychopharmacology (Berl) 143:309-314
64. Vickers SP, Dourish CT, Kennett GA (2001) Evidence that hypophagia induced by d-fenfluramine and d-norfenfluramine in the rat is mediated by 5-HT2C receptors. Neuropharmacology 41:200-209
65. Vincent JB, Masellis M, Lawrence J, Choi V, Gurling HM, Parikh SV, Kennedy JL (1999) Genetic association analysis of serotonin system genes in bipolar affective disorder. Am J Psychiatry 156:136-138
66. von Meyenburg C, Langhans W, Hrupka BJ (2003) Evidence for a role of the 5-HT2C receptor in central lipopolysaccharide-, interleukin-1 beta-, and leptin-induced anorexia. Pharmacol Biochem Behav 74:1025-1031
67. Xie E, Zhu L, Zhao L, Chang LS (1996) The human serotonin 5-HT2C receptor: complete cDNA, genomic structure, and alternatively spliced variant. Genomics 35:551-561
68. Yamada J, Sugimoto Y, Hirose H, Kajiwara Y (2003) Role of serotonergic mechanisms in leptin-induced suppression of milk intake in mice. Neurosci Lett 348:195-197
69. Yuan X, Yamada K, Ishiyama-Shigemoto S, Koyama W, Nonaka K (2000) Identification of polymorphic loci in the promoter region of the serotonin 5-HT2C receptor gene and their association with obesity and type II diabetes. Diabetologia 43:373-376
70. Zuker M (2003) Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res 31:3406-3415