Association with tryptophan hydroxylase 2 gene polymorphisms and autism spectrum disorders in Korean families

Neuroscience Research

Volumn 73, Issue 4, 2012, Pages 333-336

  Yang, So Young ^a   Yoo, Hee Jeong ^b   Cho, In Hee ^c   Park, Mira ^a   Kim, Soon Ae ^a  

^a Eulji University   (South Korea)

^b Seoul National University Bundang Hospital   (South Korea)

^c Gachon University   (South Korea)

Author keywords

Association; Autism spectrum disorder; Single nucleotide polymorphism; Tryptophan hydroxylase 2 gene

Indexed keywords

TRYPTOPHAN HYDROXYLASE 2;

ARTICLE; AUTISM; CHILD; DNA POLYMORPHISM; FAMILY STUDY; FEMALE; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; SOUTH KOREA;

ASIAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; KOREA; LINKAGE DISEQUILIBRIUM; POLYMORPHISM, SINGLE NUCLEOTIDE; TRYPTOPHAN HYDROXYLASE;

EID: 84863839548     PISSN: 01680102     EISSN: 18728111     Source Type: Journal    
DOI: 10.1016/j.neures.2012.05.012     Document Type: Article

References (28)

1. Barrett J.C., Fry B., Maller J., Daly M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 2005, 21(2):263-265.
2. Buitelaar J.K., Willemsen-Swinkels S.H. Autism: current theories regarding its pathogenesis and implications for rational pharmacotherapy. Paediatr. Drugs 2000, 2(1):67-81.
3. Cartegni L., Chew S.L., Krainer A.R. Listening to silence and understanding nonsense: exonic mutations that affect splicing. Nat. Rev. Genet. 2002, 3(4):285-298.
4. Cho I.H., Yoo H.J., Park M., Lee Y.S., Kim S.A. Family-based association study of 5-HTTLPR and the 5-HT2A receptor gene polymorphisms with autism spectrum disorder in Korean trios. Brain Res. 2007, 1139:34-41.
5. Chugani D.C., Muzik O., Rothermel R., Behen M., Chakraborty P., Mangner T., da Silva E.A., Chugani H.T. Altered serotonin synthesis in the dentatothalamocortical pathway in autistic boys. Ann. Neurol. 1997, 42(4):666-669.
6. Cook E.H., Leventhal B.L. The serotonin system in autism. Curr. Opin. Pediatr. 1996, 8(4):348-354.
7. Cook E.H., Leventhal B.L., Freedman D.X. Serotonin and measured intelligence. J. Autism Dev. Disord. 1988, 18(4):553-559.
8. Coon H., Dunn D., Lainhart J., Miller J., Hamil C., Battaglia A., Tancredi R., Leppert M.F., Weiss R., McMahon W. Possible association between autism and variants in the brain-expressed tryptophan hydroxylase gene (TPH2). Am. J. Med. Genet. B: Neuropsychiatr. Genet. 2005, 135B(1):42-46.
9. Croonenberghs J., Delmeire L., Verkerk R., Lin A.H., Meskal A., Neels H., Van der Planken M., Scharpe S., Deboutte D., Pison G., Maes M. Peripheral markers of serotonergic and noradrenergic function in post-pubertal, Caucasian males with autistic disorder. Neuropsychopharmacology 2000, 22(3):275-283.
10. Folstein S.E., Rosen-Sheidley B. Genetics of autism: complex aetiology for a heterogeneous disorder. Nat. Rev. Genet. 2001, 2(12):943-955.
11. Gutknecht L., Jacob C., Strobel A., Kriegebaum C., Muller J., Zeng Y., Markert C., Escher A., Wendland J., Reif A., Mossner R., Gross C., Brocke B., Lesch K.P. Tryptophan hydroxylase-2 gene variation influences personality traits and disorders related to emotional dysregulation. Int. J. Neuropsychopharmacol. 2007, 10(3):309-320.
12. Hollander E., Novotny S., Allen A., Aronowitz B., Cartwright C., DeCaria C. The relationship between repetitive behaviors and growth hormone response to sumatriptan challenge in adult autistic disorder. Neuropsychopharmacology 2000, 22(2):163-167.
13. Horvath S., Xu X., Laird N.M. The family based association test method: strategies for studying general genotype-phenotype associations. Eur. J. Hum. Genet. 2001, 9(4):301-306.
14. Lim J.E., Pinsonneault J., Sadee W., Saffen D. Tryptophan hydroxylase 2 (TPH2) haplotypes predict levels of TPH2 mRNA expression in human pons. Mol. Psychiatry 2007, 12(5):491-501.
15. Lord C., Risi S., Lambrecht L., Cook E.H., Leventhal B.L., DiLavore P.C., Pickles A., Rutter M. The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism. J. Autism Dev. Disord. 2000, 30(3):205-223.
16. McDougle C.J., Naylor S.T., Cohen D.J., Aghajanian G.K., Heninger G.R., Price L.H. Effects of tryptophan depletion in drug-free adults with autistic disorder. Arch. Gen. Psychiatry 1996, 53(11):993-1000.
17. McDougle C.J., Kresch L.E., Posey D.J. Repetitive thoughts and behavior in pervasive developmental disorders: treatment with serotonin reuptake inhibitors. J. Autism Dev. Disord. 2000, 30(5):427-435.
18. Mössner R., Walitza S., Geller F., Scherag A., Gutknecht L., Jacob C., Bogusch L., Remschmidt H., Simons M., Herpertz-Dahlmann B., Fleischhaker C., Schulz E., Warnke A., Hinney A., Wewetzer C., Lesch K.P. Transmission disequilibrium of polymorphic variants in the tryptophan hydroxylase-2 gene in children and adolescents with obsessive-compulsive disorder. Int. J. Neuropsychopharmacol. 2006, 9(4):437-442.
19. Novotny S., Hollander E., Allen A., Mosovich S., Aronowitz B., Cartwright C., DeCaria C., Dolgoff-Kaspar R. Increased growth hormone response to sumatriptan challenge in adult autistic disorders. Psychiatry Res. 2000, 94(2):173-177.
20. Patel P.D., Pontrello C., Burke S. Robust and tissue-specific expression of TPH2 versus TPH1 in rat raphe and pineal gland. Biol. Psychiatry 2004, 55(4):428-433.
21. Ramoz N., Cai G., Reichert J.G., Corwin T.E., Kryzak L.A., Smith C.J., Silverman J.M., Hollander E., Buxbaum J.D. Family-based association study of TPH1 and TPH2 polymorphisms in autism. Am. J. Med. Genet. B: Neuropsychiatr. Genet. 2006, 141B(8):861-867.
22. Sacco R., Papaleo V., Hager J., Rousseau F., Moessner R., Militerni R., Bravaccio C., Trillo S., Schneider C., Melmed R., Elia M., Curatolo P., Manzi B., Pascucci T., Puglisi-Allegra S., Reichelt K.L., Persico A.M. Case-control and family-based association studies of candidate genes in autistic disorder and its endophenotypes: TPH2 and GLO1. BMC Med. Genet. 2007, 8:11.
23. Scheuch K., Lautenschlager M., Grohmann M., Stahlberg S., Kirchheiner J., Zill P., Heinz A., Walther D.J., Priller J. Characterization of a functional promoter polymorphism of the human tryptophan hydroxylase 2 gene in serotonergic raphe neurons. Biol. Psychiatry 2007, 62(11):1288-1294.
24. Shiroiwa K., Hishimoto A., Mouri K., Fukutake M., Supriyanto I., Nishiguchi N., Shirakawa O. Common genetic variations in TPH1/TPH2 genes are not associated with schizophrenia in Japanese population. Neurosci. Lett. 2010, 472(3):194-198.
25. Warren R.P., Singh V.K. Elevated serotonin levels in autism: association with the major histocompatibility complex. Neuropsychobiology 1996, 34(2):72-75.
26. Yoo H.J., Lee S.K., Park M., Cho I.H., Hyun S.H., Lee J.C., Yang S.Y., Kim S.A. Family- and population-based association studies of monoamine oxidase A and autism spectrum disorders in Korean. Neurosci. Res. 2009, 63(3):172-176.
27. Yoon H.K., Kim Y.K. TPH2-703G/T SNP may have important effect on susceptibility to suicidal behavior in major depression. Prog. Neuropsychopharmacol. Biol. Psychiatry 2009, 33(3):403-409.
28. Zhang C., Li Z., Shao Y., Xie B., Du Y., Fang Y., Yu S. Association study of tryptophan hydroxylase-2 gene in schizophrenia and its clinical features in Chinese Han population. J. Mol. Neurosci. 2011, 43(3):406-411.