Analysis of transmission of novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene in patients with autism

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 121 B, Issue 1, 2003, Pages 100-104

  Lauritsen, Marlene B ^a   Nyegaard, Mette ^b   Betancur, Catalina ^c   Colineaux, Catherine ^c,d   Josiassen, Trine L ^a   Kruse, Torben A ^b   Leboyer, Marion ^c,e   Ewald, Henrik ^a  

^a AARHUS UNIVERSITY HOSPITAL   (Denmark)

^b ODENSE UNIVERSITY HOSPITAL   (Denmark)

^c INSERM   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e HENRI MONDOR HOSPITAL   (France)

Author keywords

Association; Autism; Polymorphisms; SSTR5; TDT

Indexed keywords

SOMATOSTATIN; SOMATOSTATIN RECEPTOR; SOMATOSTATIN RECEPTOR 5; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ALLELE; ARTICLE; AUTISM; CHILD; CHROMOSOME 16P; CHROMOSOME ABERRATION; CONTROLLED STUDY; DISEASE TRANSMISSION; DOPAMINERGIC TRANSMISSION; FEMALE; GENE IDENTIFICATION; GENE LINKAGE DISEQUILIBRIUM; GENE LOCATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; GROWTH HORMONE RELEASE; HORMONAL REGULATION; HORMONE ACTION; HORMONE RECEPTOR INTERACTION; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NEUROTRANSMISSION; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL; RECEPTOR BINDING; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 0042821645     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.20050     Document Type: Article

References (30)

1. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, Rutter M. 1995. Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol Med 25:63-77.
2. Bolton P, Macdonald H, Pickles A, Rios P, Goode S, Crowson M, Bailey A, Rutter M. 1994. A case-control family history study of autism. J Child Psychol Psychiatry 35:877-900.
3. Clayton D. 1999. A generalization of the transmission/disequilibrium test for uncertain-haplotype transmission. Am J Hum Genet 65:1170-1177.
4. Deloukas P, Schuler GD, Gyapay G, Beasley EM, Soderlund C, Rodriguez-Tome P, Hui L, Matise TC, McKusick KB, Beckmann JS, Bentolila S, Bihoreau M, Birren BB, Browne J, Butler A, Castle AB, Chiannilkulchai N, Clee C, Day PJ, Dehejia A, Dibling T, Drouot N, Duprat S, Fizames C, Bentley DR. 1998. A physical map of 30,000 human genes. Science 282:744-746.
5. Folstein SE, Rosen-Sheidley B. 2001. Genetics of autism: Complex aetiology for a heterogeneous disorder. Nat Rev Genet 2:943-955.
6. Gejman PV, Ram A, Gelernter J, Friedman E, Cao Q, Pickar D, Blum K, Noble EP, Kranzler HR, O'Malley S. 1994. No structural mutation in the dopamine D2 receptor gene in alcoholism or schizophrenia. Analysis using denaturing gradient gel electrophoresis. JAMA 271:204-208.
7. Gillies G. 1997. Somatostatin: The neuroendocrine story. Trends Pharmacol Sci 18:87-95.
8. Hebebrand J, Martin M, Korner J, Roitzheim B, de Braganca K, Werner W, Remschmidt H. 1994. Partial trisomy 16p in an adolescent with autistic disorder and Tourette's syndrome. Am J Med Genet 54:268-270.
9. Hollander E, Novotny S, Allen A, Aronowitz B, Cartwright C, DeCaria C. 2000. The relationship between repetitive behaviors and growth hormone response to sumatriptan challenge in adult autistic disorder. Neuropsychopharmacology 22:163-167.
10. IMGSAC (International Molecular Genetic Study of Autism Consortium). 2001. A genomewide screen for autism: Strong evidence for linkage to chromosomes 2q, 7q, and 16p. Am J Hum Genet 69:570-581.
11. Itokawa M, Arinami T, Futamura N, Hamaguchi H, Toru M. 1993. A structural polymorphism of human dopamine D2 receptor, D2(Ser311->Cys). Biochem Biophys Res Commun 196:1369-1375.
12. King BH. 2000. Pharmacological treatment of mood disturbances, aggression, and self-injury in persons with pervasive developmental disorders. J Autism Dev Disord 30:439-445.
13. Klein C, Brin MF, Kramer P, Sena-Esteves M, de Leon D, Doheny D, Bressman S, Fahn S, Breakefield XO, Ozelius LJ. 1999. Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. Proc Natl Acad Sci USA 96:5173-5176.
14. Lake CR, Ziegler MG, Murphy DL. 1977. Increased norepinephrine levels and decreased dopamine-beta-hydroxylase activity in primary autism. Arch Gen Psychiatry 34:553-556.
15. Lauritsen MB, Borglum AD, Betancur C, Philippe A, Kruse TA, Leboyer M, Ewald H. 2002. Investigation of two variants in the DOPA decarboxylase gene in patients with autism. Am J Med Genet 114:466-470.
16. Lauritsen MB, Ewald H. 2001. The genetics of autism. Acta Psychiatr Scand 103:411-427.
17. Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind D, Lord C, Iversen P, Hoh J, Ott J, Gilliam TC. 2001. A genomewide screen for autism susceptibility loci. Am J Hum Genet 69:327-340.
18. Lord C, Risi S, Lambrecht L, Cook EH Jr, Leventhal BL, DiLavore PC, Pickles A, Rutter M. 2000. The autism diagnostic observation schedule-generic: A standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord 30:205-223.
19. Lord C, Rutter M, Le Couteur 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 24:659-685.
20. Novotny S, Hollander E, Allen A, Mosovich S, Aronowitz B, Cartwright C, DeCaria C, Dolgoff-Kaspar R. 2000. Increased growth hormone response to sumatriptan challenge in adult autistic disorders. Psychiatry Res 94:173-177.
21. Nyegaard M, Borglum AD, Bruun TG, Collier DA, Russ C, Mors O, Ewald H, Kruse TA. 2002. Novel polymorphisms in the somatostatin receptor 5 (SSTR5) gene associated with bipolar affective disorder. Mol Psychiatry 7:745-754.
22. Patel YC, Greenwood MT, Panetta R, Demchyshyn L, Niznik H, Srikant CB. 1995. The somatostatin receptor family. Life Sci 57:1249-1265.
23. Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim E, Coleman M, Zappella M, Aschauer H, Van Maldergem L, Penet C, Feingold J, Brice A, Leboyer M, Paris Autism Research International Sibpair study. 1999. Genome-wide scan for autism susceptibility genes. Hum Mol Genet 8:805-812.
24. Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim C-H, Rutter M. 1995. Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: A twin and family history study of autism. Am J Hum Genet 57:717-726.
25. Povey S, Burley MW, Attwood J, Benham F, Hunt D, Jeremiah SJ, Franklin D, Gillett G, Malas S, Robson EB. 1994. Two loci for tuberous sclerosis: One on 9q34 and one on 16p13. Ann Hum Genet 58:107-127.
26. Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J, Kalaydjieva L, McCague P, Dimiceli S, Pitts T, Nguyen L, Yang J, Harper C, Thorpe D, Vermeer S, Young H, Hebert J, Lin A, Ferguson J, Chiotti C, Wiese-Slater S, Rogers T, Salmon B, Nicholas P, Myers RM. 1999. A genomic screen of autism: Evidence for a multilocus etiology. Am J Hum Genet 65:493-507.
27. Rocheville M, Lange DC, Kumar U, Patel SC, Patel RC, Patel YC. 2000. Receptors for dopamine and somatostatin: Formation of heterooligomers with enhanced functional activity. Science 288:154-157.
28. Smalley SL. 1998. Autism and tuberous sclerosis. J Autism Dev Disord 28:407-414.
29. Spielman RS, Ewens WJ. 1998. A sibship test for linkage in the presence of association: The sib transmission/disequilibrium test. Am J Hum Genet 62:450-458.
30. Takeda J, Fernald AA, Yamagata K, Le Beau MM, Bell GI. 1995. Localization of human somatostatin receptor 5 gene (SSTR5) to chromosome band 16p13.3 by fluorescence in situ hybridization. Genomics 26:638-639.