Comprehensive family-based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 156, Issue 4, 2011, Pages 472-477

  Samuels, Jack ^a   Wang, Ying ^a   Riddle, Mark A ^a   Greenberg, Benjamin D ^b   Fyer, Abby J ^c   Mccracken, James T ^d   Rauch, Scott L ^e   Murphy, Dennis L ^f   Grados, Marco A ^a   Knowles, James A ^g   Piacentini, John ^d   Cullen, Bernadette ^a   Bienvenu, O Joseph ^a   Rasmussen, Steven A ^b   Geller, Daniel ^e   Pauls, David L ^h   Liang, Kung Yee ⁱ   Shugart, Yin Y ^f   Nestadt, Gerald ^a  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b BUTLER HOSPITAL   (United States)

^c New York State Psychiatric Institute ^*  (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e HARVARD MEDICAL SCHOOL   (United States)

^f NATIONAL INSTITUTE OF MENTAL HEALTH   (United States)

^g UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Candidate gene; Glutamate transporter; Obsessive compulsive disorder

Indexed keywords

EXCITATORY AMINO ACID TRANSPORTER 3;

ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILY; FEMALE; GENE LINKAGE DISEQUILIBRIUM; GENETIC ASSOCIATION; GENETIC MARKER; GENOTYPE; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; OBSESSIVE COMPULSIVE DISORDER; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM;

EXCITATORY AMINO ACID TRANSPORTER 3; FAMILY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; MALE; OBSESSIVE-COMPULSIVE DISORDER; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79955113465     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.31184     Document Type: Article

References (41)

1. American Psychiatric Association. 1994. Diagnostic and Statistical Manual of Mental Disorders, 4th edition. Washington, DC: American Psychiatric Association. 886 p.
2. Arnold PD, Sicard T, Burroughs E, Richter MA, Kennedy JL. 2006. Glutamate transporter gene SLC1A1 associated with obsessive-compulsive disorder. Arch Gen Psychiatry 63: 769-776.
3. Alsobrook JP 2nd, Zohar AH, Leboyer M, Chabane N, Ebstein RP, Pauls DL. 2002. Association between the COMT locus and obsessive-compulsive disorder in females but not males. Am J Med Genet Part B 114B: 116-120.
4. Brune CW, Kim SJ, Hanna GL, Courchesne E, Lord C, Leventhal BL, Cook EH. 2008. Family-based association testing of OCD-associated SNPs of SLC1A1 in an autism sample. Autism Res 1: 108-113.
5. Camarena B, Rinetti G, Cruz C, Gomez A, de la Fuente JR, Nicolini H. 2001. Additional evidence that genetic variation of MAO-A gene supports a gender subtype in obsessive-compulsive disorder. Am J Med Genet Part B 105B: 279-282.
6. Carroll LS, Williams NM, Moskvina V, Russell E, Norton N, Williams HJ, Peirce T, Georgieva L, Dwyer S, Grozeva D, Greene E, Farmer A, McGuffin P, Morris DW, Corvin A, Gill M, Rujescu D, Sham P, Holmans P, Jones I, Kirov G, Craddock N, O'Donovan MC, Owen MJ. 2010. Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha. Mol Psychiatry 15: 1101-1011.
7. Dickel DE, Veenstra-VanderWeele J, Cox NJ, Wu X, Fischer DJ, Etten-Lee M, Himle JA, Leventhal BL, Cook EH Jr, Hanna GL. 2006. Association testing of the positional and functional candidate gene SLC1A1/EAAC1 in early-onset obsessive-compulsive disorder. Arch Gen Psychiatry 63: 778-785.
8. Douglas JA, Skol AD, Boehnke M. 2002. Probability of detection of genotyping errors and mutations as inheritance inconsistencies in nuclear-family data. Am J Hum Genet 70: 487-495.
9. First MB, Spitzer RL, Gibbon M, Williams JBW. 1996. Structured Clinical Interview for DSM-IV Axis I Disorders, Clinician Version (SCID-CV) Washington, D.C.: American Psychiatric Press.
10. Gadow KD, Roohi J, Devincent CJ, Kirsch S, Hatchwell E. 2010. Glutamate transporter gene (SLC1A1) single nucleotide polymorphism (r s301430) and repetitive behaviors and anxiety in children with autism spectrum disorder. J Autism Dev Disord 40: 1139-1145.
11. Goes FS, Willour VL, Zandi PP, Belmonte PL, MacKinnon DF, Mondimore FM, Schweizer B, National Institute of Mental Health Genetics Initiative Bipolar Disorder Consortium, DePaulo JR Jr, Gershon ES, McMahon FJ, Potash JB, 2010. Sex-specific genetic association of the Reelin gene with bipolar disorder. Am J Med Genet Part B 153B: 549-553.
12. Goodman WK, Price LH, Rasmussen SA, Mazure C, Fleischmann RL, Hill CL, Heninger GR, Charney DS. 1989. The Yale-Brown Obsessive Compulsive Scale: I. Development, use, and reliability. Arch Gen Psychiatry 46: 1006-1011.
13. Hanna GL, Veenstra-VanderWeele J, Cox NJ, Boehnke M, Himle JA, Curtis GC, Leventhal BL, Cook EH Jr. 2002. Genome-wide linkage analysis of families with obsessive-compulsive disorder ascertained through pediatric probands. Am J Med Genet Part B 114B: 541-552.
14. Harrison PJ, Tunbridge EM. 2008. Catechol-O-methyltransferase (COMT): A gene contributing to sex differences in brain function, and to sexual dimorphism in the predisposition to psychiatric disorders. Neuropsychopharmacol 33: 3037-3045.
15. Kanai Y, Hediger MA. 2004. The glutamate/neutral amino acid transporter family SL C1: Molecular, physiological and pharmacological aspects. Pflugers Arch 447: 469-479.
16. Kantojärvi K, Onkamo P, Vanhala R, Alen R, Hedman M, Sajantila A, Nieminen-von Wendt T, Järvelä I. 2010. Analysis of 9p24 and 11p12-13 regions in autism spectrum disorders: rs1340513 in the JMJD2C gene is associated with ASDs in Finnish sample. Psychiatr Genet 20: 102-108.
17. Karayiorgou M, Altemus M, Galke BL, Goldman D, Murphy DL, Ott J, Gogos JA. 1997. Genotype determining low catechol-O-methyltransferase activity as a risk factor for obsessive-compulsive disorder. Proc Nat Acad Sci 94: 4572-4575.
18. Karayiorgou M, Sobin C, Blundell ML, Galke BL, Malinova L, Goldberg P, Ott J, Gogos JA. 1999. Family-based association studies support a sexually dimorphic effect of COMT and MAOA on genetic susceptibility to obsessive-compulsive disorder. Biol Psychiatr 45: 1178-1189.
19. Lange C, DeMeo D, Silverman EK, Weiss ST, Laird NM. 2004. PBAT: Tools for family-based association studies. Am J Hum Genet 74: 367-369.
20. Leckman JF, Kim Y-S. 2006. A primary candidate gene for obsessive-compulsive disorder. Arch Gen Psychiatry 63: 719-720.
21. Liang K-Y, Wang Y, Shugart YY, Grados MA, Fyer AJ, Rauch SL, Murphy DL, McCracken JT, Rasmussen SA, Cullen B, Hoehn-Saric R, Greenberg BD, Pinto A, Knowles JA, Piacentini J, Pauls DL, Bienvenu OJ, Riddle M, Samuels JF, Nestadt G. 2008. Evidence for potential relationship between EAAC1 (SLC1A1) and a putative genetic linkage region on chromosome 14q to obsessive-compulsive disorder with compulsive hoarding. Am J Med Genet Part B 147B: 1000-1002.
22. Mannuzza S, Fyer AJ, Endicott J, Klein DF. 1985. Family informant schedule and criteria. New York: Anxiety Family Study Unit, New York State Psychiatric Institute. 31 p.
23. Mannuzza S, Fyer AJ, Klein DF, Endicott J. 1986. Schedule for affective disorders and schizophrenia-lifetime version modified for the study of anxiety disorders (SADS-LA): Rationale and conceptual development. J Psychiatric Res 20: 317-325.
24. Miguel EC, Leckman JF, Rauch S, Rosario-Campos MC, Hounie AG, Mercandante MT, Chacon P, Pauls DL. 2005. Obsessive-compulsive disorder phenotypes: Implications for genetic studies. Mol Psychiatry 10: 258-275.
25. Nestadt G, Grados M, Samuels JF. 2010. Genetics of obsessive-compulsive disorder. Psychiatr Clin North Am 33: 141-158.
26. Nestadt G, Lan T, Samuels J, Riddle M, Bienvenu OJ 3rd, Liang KY, Hoehn-Saric R, Cullen B, Grados M, Beaty TH, Shugart YY. 2000. Complex segregation analysis provides compelling evidence for a major gene underlying obsessive-compulsive disorder (OCD) and heterogeneity by gender. Am J Hum Genet 67: 1611-1616.
27. O'Connell JR, Weeks DE. 1998. PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63: 259-266.
28. Pfohl B, Zimmerman M, Blum N. 1997. Structured Interview for DSM-IV Personality (SIDP-IV). Washington, DC: American Psychiatric Association.
29. Pooley EC, Fineberg N, Harrison PJ. 2007. The met(158) allele of catechol-O-methyltransferase (COMT) is associated with obsessive-compulsive disorder in men: case-control study and meta-analysis. Mol Psychiatry 12: 556-561.
30. 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 set tool for whole-genome association population-based linkage analyses. Am J Hum Genet 81: 559-575.
31. Rosenberg DR, MacMaster FP, Keshavan MS, Fitzgerald KD, Stewart CM, Moore GJ. 2000. Decrease in caudate glutamatergic concentrations in pediatric obsessive-compulsive disorder patients taking paroxetine. J Am Acad Child Adolesc Psychiatry 39: 1096-1103.
32. Rosenberg DR, Mirza Y, Russell A, Tang J, Smith JM, Banerjee SP, Bhandari R, Rose M, Ivey J, Boyd C, Moore GJ. 2004. Reduced anterior cingulate glutamatergic concentrations in childhood OCD and major depression versus healthy controls. J Am Acad Child Adolesc Psychiatry 43: 1146-1153.
33. Samuels JF, Riddle MA, Greenberg BD, Fyer AJ, McCracken JT, Rauch SL, Murphy DL, Grados MA, Pinto A, Knowles JA, Piacentini J, Cannistraro PA, Cullen B, Bienvenu OJ III, Rasmussen SA, Pauls DL, Willour VL, Shugart YY, Liang KY, Hoehn-Saric R, Nestadt G. 2006. The OCD Collaborative Genetics Study: Methods and sample description. Am J Med Genet Part B 141B: 201-207.
34. Samuels J, Shugart YY, Grados MA, Willour VL, Bienvenu OJ, Greenberg BD, Knowles JA, McCracken JT, Rauch SL, Murphy DL, Wang Y, Pinto A, Fyer AJ, Piacentini J, Pauls DL, Cullen B, Rasmussen SA, Hoehn-Saric R, Valle D, Liang KY, Riddle MA, Nestadt G. 2007a. Significant linkage to compulsive hoarding on chromosome 14 in families with obsessive compulsive disorder. Am J Psychiatry 164: 493-499.
35. Samuels J, Shugart YY, Grados MA, Willour VL, Bienvenu OJ, Greenberg BD, Knowles JA, McCracken JT, Rauch SL, Murphy DL, Wang Y, Pinto A, Fyer AJ, Piacentini J, Pauls DL, Cullen B, Rasmussen SA, Hoehn-Saric R, Valle D, Liang KY, Riddle MA, Nestadt G. 2007b. Significant linkage to compulsive hoarding on chromosome 14 in families with obsessive-compulsive disorder: Results from the OCD Collaborative Genetics Study. Am J Psychiatry 164: 493-499.
36. Shugart YY, Wang Y, Samuels JF, Chang YC, Grados MA, Greenberg BD, Knowles JA, McCracken JT, Rauch SL, Murphy DL, Rasmussen SA, Cullen B, Hoehn-Saric R, Pinto A, Fyer AJ, Piacentini J, Pauls DL, Bienvenu OJ, Riddle MA, Liang KY, Nestadt G. 2009. A family based association study of the glutamate transporter gene SLC1A1 in obsessive-compulsive disorder. Am J Med Genet Part B 150B: 886-892.
37. Stewart SE, Fagerness JA, Platko J, Smoller JW, Scharf JM, Illmann C, Jenike E, Chabane N, Leboyer M, Delorme R, Jenike MA, Pauls DL. 2007. Association of the SLC1A1 glutamate transporter gene and obsessive-compulsive disorder. Am J Med Genet Part B 144B: 1027-1033.
38. Veenstra-VanderWeele J, Kim SJ, Gonen D, Hanna GL, Leventhal BL, Cook EH Jr. 2001. Genomic organization of the SLC1A1/EAAC1 gene and mutation screening in early-onset obsessive-compulsive disorder. Mol Psychiatry 6: 160-167.
39. Wang Y, Admaczyk A, Shugart YY, Samuels JF, Grados MA, Greenberg BD, Knowles JA, McCracken JT, Rauch SL, Murphy DL, Rasmussen SA, Cullen B, Pinto A, Fyer AJ, Piacentini J, Pauls DL, Bienvenu OJ, Riddle M, Liang KY, Valle D, Wang T, Nestadt G. 2010. A screen of SLC1A1 for OCD-related alleles. Am J Med Genet Part B 153B: 635-639.
40. Wendland JR, Moya PR, Timpano KR, Anavitarte AP, Kruse MR, Wheaton MG, Ren-Patterson RF, Murphy DL. 2009. A haplotype containing quantitative trait loci for SLC1A1 gene expression and its association with obsessive-compulsive disorder. Arch Gen Psychiatry 66: 408-416.
41. Willour VL, Yao SY, Samuels J, Grados M, Cullen B, Bienvenu OJ III, Wang Y, Liang KY, Valle D, Hoehn-Saric R, Riddle M, Nestadt G. 2004. Replication study supports evidence for linkage to 9p24 in obsessive-compulsive disorder. Am J Hum Genet 75: 508-513.