Parent-of-origin effects of the serotonin transporter gene associated with autism

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 156, Issue 2, 2011, Pages 139-144

  Kistner Griffin, Emily ^a   Brune, Camille W ^b   Davis, Lea K ^b   Sutcliffe, James S ^c   Cox, Nancy J ^d   Cook Jr , Edwin H ^b  

^a MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^b UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

^c VANDERBILT UNIVERSITY   (United States)

^d UNIVERSITY OF CHICAGO   (United States)

Author keywords

5 HTTLPR; Association; Autism; Maternal effects; Parent of origin effects

Indexed keywords

SEROTONIN TRANSPORTER;

ADOLESCENT; ADULT; ALLELISM; ARTICLE; AUTISM; CHILD; FEMALE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN TISSUE; MALE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; ALLELES; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHILD, PRESCHOOL; FEMALE; GENOMIC IMPRINTING; GENOTYPE; HUMANS; MOTHERS; PHENOTYPE; POLYMORPHISM, GENETIC; SEROTONIN PLASMA MEMBRANE TRANSPORT PROTEINS; YOUNG ADULT;

EID: 79551707592     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.31146     Document Type: Article

References (43)

1. Abramson RK, Wright HH, Carpenter R, Brennan W, Lumpuy O, Cole E, Young SR. 1989. Elevated blood serotonin in autistic probands and their first-degree relatives. J Autism Dev Disord 19:397-407.
2. Bradley SL, Dodelzon K, Sandhu HK, Philibert RA. 2005. Relationship of serotonin transporter gene polymorphisms and haplotypes to mRNA transcription. Am J Med Genet Part B Neuropsychiatr Genet 5B:58-61.
3. Brune CW, Kim SJ, Salt J, Leventhal BL, Lord C, Cook EH Jr. 2006. 5-HTTLPR genotype-specific phenotype in children and adolescents with autism. Am J Psychiatry 163:2148-2156.
4. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B. 1995. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nat Genet 9:395-400.
5. Chandana SR, Behen ME, Juhasz C, Muzik O, Rothermel RD, Mangner TJ, Chakraborty PK, Chugani HT, Chugani DC. 2005. Significance of abnormalities in developmental trajectory and asymmetry of cortical serotonin synthesis in autism. Int J Dev Neurosci 23:171-182.
6. Cho IH, Yoo HJ, Park M, Lee YS, Kim SA. 2007. Family-based association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios. Brain Res 1139:34-41.
7. Cook EH, Leventhal BL. 1996. The serotonin system in autism. Curr Opin Pediatr 8:348-354.
8. Cook EH Jr, Leventhal BL, Heller W, Metz J, Wainwright M, Freedman DX. 1990. Autistic children and their first-degree relatives: Relationships between serotonin and norepinephrine levels and intelligence. J Neuropsychiatr Clin Neurosci 2:268-274.
9. Cook EH Jr, Courchesne R, Lord C, Cox NJ, Yan S, Lincoln A, Haas R, Courchesne E, Leventhal BL. 1997a. Evidence of linkage between the serotonin transporter and autistic disorder. Mol Psychiatry 2:247-250.
10. Cook EH Jr, Lindgren V, Leventhal BL, Courchesne R, Lincoln A, Shulman C, Lord C, Courchesne E. 1997b. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet 60:928-934.
11. Coon H, Dunn D, Lainhart J, Miller J, Hamil C, Battaglia A, Tancredi R, Leppert MF, Weiss R, McMahon W. 2005. Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2). Am J Med Genet Part B Neuropsychiatr Genet 135B:42-46.
12. Cote F, Fligny C, Bayard E, Launay JM, Gershon MD, Mallet J, Vodjdani G. 2007. Maternal serotonin is crucial for murine embryonic development. Proc Natl Acad Sci USA 104:329-334.
13. Devlin B, Cook EH Jr, Coon H, Dawson G, Grigorenko EL, McMahon W, Minshew N, Pauls D, Smith M, Spence MA, Rodier PM, Stodgell C, Schellenberg GD. CPEA Genetics Network. 2005. Autism and the serotonin transporter: The long and short of it. Mol Psychiatry 10:1110-1116.
14. Greenberg BD, Tolliver TJ, Huang SJ, Li Q, Bengel D, Murphy DL. 1999. Genetic variation in the serotonin transporter promoter region affects serotonin uptake in human blood platelets. Am J Med Genet 88:83-87.
15. Guhathakurta S, Sinha S, Ghosh S, Chatterjee A, Ahmed S, Gangopadhyay PK, Usha R. 2008. Population-based association study and contrasting linkage disequilibrium pattern reveal genetic association of SLC6A4 with autism in the Indian population from West Bengal. Brain Res 1240:12-21.
16. Heils A, Teufel A, Petri S, Stober G, Riederer P, Bengel D, Lesch KP. 1996. Allelic variation of human serotonin transporter gene expression. J Neurochem 66:2621-2624.
17. Hollander E, Phillips A, Chaplin W, Zagursky K, Novotny S, Wasserman S, Iyengar R. 2005. A placebo controlled crossover trial of liquid fluoxetine on repetitive behaviors in childhood and adolescent autism. Neuropsychopharmacology 30:582-589.
18. Hranilovic D, Stefulj J, Schwab S, Borrmann-Hassenbach M, Albus M, Jernej B, Wildenauer D. 2004. Serotonin transporter promoter and intron 2 polymorphisms: Relationship between allelic variants and gene expression. Biol Psychiatry 11:1090-1094.
19. Kistner EO, Infante-Rivard C, Weinberg CR. 2006. A method for using incomplete triads to test maternally mediated genetic effects and parent-of-origin effects in relation to a quantitative trait. Am J Epidemiol 163:255-261.
20. Klauck SM, Poustka F, Benner A, Lesch KP, Poustka A. 1997. Serotonin transporter (5-HTT) gene variants associated with autism? Hum Mol Genet 6:2233-2238.
21. Knoll JK, Nicholls RD, Lalande M. 1989. On the parental origin of the deletion in Angelman syndrome. Hum Genet 83:205-207.
22. Lesch KP, Balling U, Gross J, Strauss K, Wolozin BL, Murphy DL, Riederer P. 1994. Organization of the human serotonin transporter gene. J Neural Transm Gen Sect 95:157-162.
23. Lesch KP, Bengel D, Heils A, Sabol SZ, Greenberg BD, Petri S, Benjamin J, Muller CR, Hamer DH, Murphy DL. 1996. Association of anxiety related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 274:1527-1531.
24. Lim JE, Papp A, Pinsonneault J, Sadee W, Saffen D. 2006. Allelic expression of serotonin transporter (SERT) mRNA in human pons: Lack of correlation with the polymorphism SERTLPR. Mol Psychiatry 11:649-662.
25. Little KY, McLaughlin DP, Zhang L, Livermore CS, Dalack GW, McFinton PR, DelProposto ZS, Hill E, Cassin BJ, Watson SJ, Cook EH. 1998. Cocaine, ethanol and genotype effects on human midbrain serotonin transporter binding sites and mRNA levels. Am J Psychiatry 155:207-213.
26. Longo D, Schuler-Faccini L, Brandalize AP, dos Santos Riesgo R, Bau CH. 2009. Influence of the 5-HTTLPR polymorphism and environmental risk factors in a Brazilian sample of patients with autism spectrum disorders. Brain Res 1267:9-17.
27. Lord C, Rutter M, Le Coueur A. 1994. Autism diagnostic interview-revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24(5): 659-685.
28. McCauley JL, Olson LM, Dowd M, Amin T, Steele A, Blakely RD, Folstein SE, Haines JL, Sutcliffe JS. 2004. Linkage and association analysis at the serotonin transporter (SLC6A4) locus in a rigid-compulsive subset of autism. Am J Med Genet Part B Neuropsychiatr Genet 127B:104-112.
29. Mendelsohn D, Riedel WJ, Sambeth A. 2009. Effects of acute tryptophan depletion on memory, attention and executive functions: A systematic review. Neurosci Biobehav Rev 33:926-952.
30. Mortensen OV, Thomassen M, Larsen MB, Whittemore SR, Wiborg O. 1999. Functional analysis of a novel human serotonin transporter gene promoter in immortalized raphe cells. Brain Res Mol Brain Res 68:141-148.
31. Mulder EJ, Anderson GM, Kema IP, de Bildt A, van Lang ND, den Boer JA, Minderaa RB. 2004. Platelet serotonin levels in pervasive developmental disorders and mental retardation: Diagnostic group differences, within-group distribution, and behavioral correlates. J Am Acad Child Adolesc Psychiatry 43:491-499.
32. Nakamura M, Ueno S, Sano A, Tanabe H. 2000. The human serotonin transporter gene linked polymorphism (5-HTTLPR) shows ten novel allelic variants. Mol Psychiatry 5:32-38.
33. Nakamura K, Sekine Y, Ouchi Y, Tsujii M, Yoshikawa E, Futatsubashi M, Tsuchiya KJ, Sugihara G, Iwata Y, Suzuki K, Matsuzaki H, Suda S, Sugiyama T, Takei N, Mori N. 2010. Brain serotonin and dopamine transporter bindings in adults with high-functioning autism. Arch Gen Psychiatry 67:59-68.
34. Piven J, Tsai GC, Nehme E, Coyle JT, Chase GA, Folstein SE. 1991. Platelet serotonin, a possible marker for familial autism. J Autism Dev Disord 21:51-59.
35. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, Bender D, Maller J, Sklar P, de Bakker PI, Daly MJ, Sham PC. 2007. PLINK: A tool set for whole-genome association and population based linkage analyses. Am J Hum Genet 81(3): 559-575.
36. Schain RJ, Freedman DX. 1961. Studies on 5-hydroxyindole metabolism in autistic and other mentally retarded children. J Pediatr 58:315-320.
37. Schroer RJ, Phelan MC, Michaelis RC, Crawford EC, Skinner SA, Cuccaro M, Simensen RJ, Bishop J, Skinner C, Fender D, Stevenson RE. 1998. Autism and maternally derived aberrations on chromosome 15q. Am J Med Genet 76:327-336.
38. Sutcliffe JS, Delahanty RJ, Prasad HC, McCauley JL, Han Q, Jiang L, Li C, Folstein SE, Blakely RD. 2005. Allelic heterogeneity at the serotonin transporter locus (SLC6A4) confers susceptibility to autism and rigid-complusive behaviors. Am J Hum Genet 77:265-279.
39. Veenstra-VanderWeele J, Anderson GM, Cook EH Jr. 2000. Pharmacogenetics and the serotonin system: Initial studies and future directions. Eur J Pharmacol 410:165-181.
40. Wassink TH, Hazlett HC, Epping EA, Arndt S, Dager SR, Schellenberg GD, Dawson G, Piven J. 2007. Cerebral cortical gray matter overgrowth and functional variation of the serotonin transporter gene in autism. Arch Gen Psychiatry 64:709-717.
41. Weinberg CR. 1999. Allowing for missing parents in genetic studies of case-parent triads. Am J Hum Genet 64:1186-1193.
42. Weinberg CR, Wilcox AJ, Lie RT. 1998. A log-linear approach to case-parent triad data: Assessing effects of disease genes that act either directly or through maternal effects and that may be subject to parental imprinting. Am J Hum Genet 62:969-978.
43. Willeit M, Stastny J, Pirker W, Praschak-Rieder N, Neumeister A, Asenbaum S, Tauscher J, Fuchs K, Sieghart W, Hornik K, Aschauer HN, Brucke T, Kasper S. 2001. No evidence for in vivo regulation of midbrain serotonin transporter availability by serotonin transporter promoter gene polymorphism. Biol Psychiatry 50:8-12.