Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples

American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics

Volumn 150, Issue 4, 2009, Pages 560-569

  Talkowski, Michael E ^a,b,c   McClain, Lora ^a   Allen, Trina ^d   Bradford, L DiAnne ^e   Calkins, Monica ^f   Edwards, Neil ^g   Georgieva, Lyudmila ^h   Go, Rodney ⁱ   Gur, Ruben ^f   Gur, Raquel ^f   Kirov, George ^h   Chowdari, Kodavali ^a   Kwentus, Joseph ^j   Lyons, Paul ^k   Mansour, Hader ^a   McEvoy, Joseph ^d   O'Donovan, Michael C ^h   O'Jile, Judith ^j   Owen, Michael J ^h   Santos, Alberto ^l   Savage, Robert ⁱ   Toncheva, Draga ^m   Vockley, Gerard ^a   Wood, Joel ^a   Devlin, Bernie ^a,b   Nimgaonkar, Vishwajit L ^a,b   more..

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c HARVARD UNIVERSITY   (United States)

^d DUKE UNIVERSITY MEDICAL CENTER   (United States)

^e MOREHOUSE SCHOOL OF MEDICINE   (United States)

^f UNIVERSITY OF PENNSYLVANIA   (United States)

^g UNIVERSITY OF TENNESSEE   (United States)

^h CARDIFF UNIVERSITY SCHOOL OF MEDICINE   (United Kingdom)

ⁱ UNIVERSITY OF ALABAMA AT BIRMINGHAM   (United States)

^j UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^k UNIVERSITY OF VIRGINIA   (United States)

^l MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^m MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

more..

Author keywords

Phenylalanine hydroxylase; Polymorphism; Schizophrenia

Indexed keywords

AFRICAN AMERICAN; ALLELE; ARTICLE; BULGARIA; CASE CONTROL STUDY; CAUCASIAN; CONTROLLED STUDY; EUROPEAN AMERICAN; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PAH GENE; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MUTATION; PHENYLALANINE HYDROXYLASE; PHENYLKETONURIAS; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA;

EID: 66649099684     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/ajmg.b.30862     Document Type: Article

References (45)

1. Aliyu MH, Calkins ME, Swanson CL Jr, Lyons PD, Savage RM, May R, Wiener H, Devlin B, Nimgaonkar VL, Ragland JD, Gur RE, Gur RC, Bradford LD, Edwards N, Kwentus J, McEvoy JP, Santos AB, McCleod-Bryant S, Tennison C, Go RC. 2006. Project among African-Americans to explore risks for schizophrenia (PAARTNERS): Recruitment and assessment methods. Schizophr Res 87(1-3):32-44. (Pubitemid 44428138)
2. Bacanu SA, Devlin B, Chowdari KV, DeKosky ST, Nimgaonkar VL, Sweet RA. 2002. Linkage analysis of Alzheimer disease with psychosis. Neurology 59(1):118-120. (Pubitemid 34742805)
3. Cares RM. 1956. Absence of phenylketonuria in adult psychotics; a survey of 4246 inmates of a state mental hospital. Am J Psychiatry 112(11):938-939.
4. Carlsson A. 1988. The current status of the dopamine hypothesis of schizophrenia. Neuropsychopharmacology 1(3):179-186. (Pubitemid 19126130)
5. Chao HM, Richardson MA. 2002. Aromatic amino acid hydroxylase genes and schizophrenia. Am J Med Genet 114(6):626-630.
6. Conneely KN, Boehnke M. 2007. So many correlated tests, so little time! Rapid adjustment of P values for multiple correlated tests. Am J Hum Genet 81(6):1158-1168. (Pubitemid 350211447)
7. Corcoran C, Whitaker A, Coleman E, Fried J, Feldman J, Goudsmit N, Malaspina D. 2005. Olfactory deficits, cognition and negative symptoms in early onset psychosis. Schizophr Res 80(2/3):283-293. (Pubitemid 41713654)
8. Devlin B, Roeder K. 1999. Genomic control for association studies. Biometrics 55:997-1004.
9. Devlin B, Klei L, Myles-Worsley M, Tiobech J, Otto C, Byerley W, Roeder K. 2007. Genetic liability to schizophrenia in Oceanic Palau: A search in the affected and maternal generation. Hum Genet 121(6):675-684. (Pubitemid 46916966)
10. Diamond A, Ciaramitaro V, Donner E, Djali S, Robinson MB. 1994. An animal model of early-treated PKU. J Neurosci 14(5Pt 2): 3072-3082. (Pubitemid 24138994)
11. Donlon J, Levy H, Scriver CR. 2004. The metabolic and molecular bases of inherited disease. Hyperphenylalaninemia: Phenylalanine hydroxylase deficiency. New York: McGraw-Hill.
12. Fernstrom JD, Fernstrom MH. 2007. Tyrosine, phenylalanine, and catecholamine synthesis and function in the brain. J Nutr 137(6 Suppl 1):1539S-1547S [discussion 1548S]. (Pubitemid 46855503)
13. Fisch RO, Hosfield WB, Chang PN, Barranger J, Hastings DW. 1979. An adult phenylketonuric with schizophrenia. Clinical and biochemical similarities and possible genetic connection between the two diseases. Minn Med 62(4):243-246.
14. Fisher RA. 1948. Combining independent tests of significance. Am Stat 2(5):30.
15. Følling A. 1934. Ueber Ausscheidung von Phenylbrenztraubensaeure in den Harn als Stoffwechselanomalie in Verbindung mit Imbezillitaet. Hoppe-Seyler's Zeitschrift Fuer Physiologische Chemie 227:169-176.
16. Greenwood TA, Braff DL, Light GA, Cadenhead KS, Calkins ME, Dobie DJ, Freedman R, Green MF, Gur RE, Gur RC, Mintz J, Nuechterlein KH, Olincy A, Radant AD, Seidman LJ, Siever LJ, Silverman JM, Stone WS, Swerdlow NR, Tsuang DW, Tsuang MT, Turetsky BI, Schork NJ. 2007. Initial heritability analyses of endophenotypic measures for schizophrenia: The consortium on the genetics of schizophrenia. Arch Gen Psychiatry 64(11):1242-1250. (Pubitemid 350074822)
17. Gur RE, Nimgaonkar VL, Almasy L, Calkins ME, Ragland JD, Pogue-Geile MF, Kanes S, Blangero J, Gur RC. 2007. Neurocognitive endophenotypes in a multiplex multigenerational family study of schizophrenia. Am J Psychiatry 164:813-819. (Pubitemid 46808537)
18. HapMap. 2003. The international HapMap project. Nature 426(6968):789-796.
19. Jeste DV, Doongaji DR, Panjwani D, Datta M, Potkin SG, Karoum F, Thatte S, Sheth AS, Apte JS, Wyatt RJ. 1981. Cross-cultural study of a biochemical abnormality in paranoid schizophrenia. Psychiatry Res 5(3):341-352.
20. Kirov G, Ivanov D, Williams NM, Preece A, Nikolov I, Milev R, Koleva S, Dimitrova A, Toncheva D, O'Donovan MC, Owen MJ. 2004. Strong evidence for association between the dystrobrevin binding protein 1 gene (DTNBP1) and schizophrenia in 488 parent-offspring trios from Bulgaria. Biol Psychiatry 55(10):971-975. (Pubitemid 38581911)
21. Laird NM, Horvath S, Xu X. 2000. Implementing a unified approach to family-based tests of association. Genet Epidemiol 19(Suppl 1):S36-42.
22. Mansour HA, Talkowski ME, Wood J, Pless L, Bamne M, Chowdari KV, Allen M, Bowden CL, Calabrese J, El-Mallakh RS, Fagiolini A, Faraone SV, Fossey MD, Friedman ES, Gyulai L, Hauser P, Ketter TA, Loftis JM, Marangell LB, Miklowitz DJ, Nierenberg AA, Patel J, Sachs GS, Sklar P, Smoller JW, Thase ME, Frank E, Kupfer DJ, Nimgaonkar VL. 2005. Serotonin gene polymorphisms and bipolar I disorder: Focus on the serotonin transporter. Ann Med 37(8):590-602. (Pubitemid 41780147)
23. Nurnberger JI Jr, Blehar MC, Kaufmann CA, York-Cooler C, Simpson SG, Harkavy-Friedman J, Severe JB, Malaspina D, Reich T. 1994. Diagnostic interview for genetic studies. Rationale, unique features, and training. NIMH genetics initiative. Arch Gen Psychiatry 51(11):849-859; [discussion 863-4].
24. O'Connell JR, Weeks DE. 1998. PedCheck: A program for identification of genotype incompatibilities in linkage analysis. Am J Hum Genet 63(1):259-266.
25. O'Reilly RL, Davis BA. 1994. Phenylethylamine and schizophrenia. Prog Neuropsychopharmacol Biol Psychiatry 18(1):63-75. (Pubitemid 24010269)
26. Pardridge WM, Choi TB. 1986. Neutral amino acid transport at the human blood-brain barrier. Fed Proc 45(7):2073-2078. (Pubitemid 16065963)
27. Penrose LS. 1935. The detection of autosomal linkage in data which consists of pairs of brothers and sisters of unspecified parentage. Ann Eugen 6:133-138.
28. Poisner AM. 1960. Serum phenylalanine in schizophrenia: Biochemical genetic aspects. J Nerv Ment Dis 131:74-76.
29. Raymond M, Rousset F. 1995. GENEPOP (version 1.2): Population genetics software for exact tests and ecumenicism. J Hered 86:248-249.
30. Richardson MA, Guttler F, Guldberg P, Read L, Clelland J, Chao H, Reilly M, Suckow R. 1999. Functional and psychiatric associations of the phenylalanine hydroxylase gene. Mol Psychiatry 4:S41.
31. Richardson MA, Read LL, Clelland JD, Chao HM, Reilly MA, Romstad A, Suckow RF. 2003. Phenylalanine hydroxylase gene in psychiatric patients: Screening and functional assay of mutations. Biol Psychiatry 53(6):543-553. (Pubitemid 36331894)
32. Rinaldo A, Bacanu SA, Devlin B, Sonpar V, Wasserman L, Roeder K. 2005. Characterization of multilocus linkage disequilibrium. Genet Epidemiol 28:193-206. (Pubitemid 40404574)
33. Scriver CR, Hurtubise M, Konecki D, Phommarinh M, Prevost L, Erlandsen H, Stevens R, Waters PJ, Ryan S, McDonald D, Sarkissian C. 2003. PAHdb 2003: What a locus-specific knowledgebase can do. Hum Mutat 21(4):333-344. (Pubitemid 36389823)
34. Seeman P, Lee T, Chau-Wong M, Wong K. 1976. Antipsychotic drug doses and neuroleptic/dopamine receptors. Nature 261(5562):717-719.
35. Shiwach RS, Sheikha S. 1998. Delusional disorder in a boy with phenylketonuria and amine metabolites in the cerebrospinal fluid after treatment with neuroleptics. J Adolesc Health 22(3):244-246. (Pubitemid 28110174)
36. Snyder SH. 1973. Amphetamine psychosis: A "model" schizophrenia mediated by catecholamines. Am J Psychiatry 130(1):61-67.
37. Sobell JL, Heston LL, Sommer SS. 1993. Novel association approach for determining the genetic predisposition to schizophrenia: Case-control resource and testing of a candidate gene. Am J Med Genet 48(1):28-35. (Pubitemid 23119954)
38. Talkowski ME, Kirov G, Bamne M, Georgieva L, Torres G, Mansour H, Chowdari KV, Milanova V, Wood J, McClain L, Prasad K, Shirts B, Zhang J, O'Donovan MC, Owen MJ, Devlin B, Nimgaonkar VL. 2008. A network of dopaminergic gene variations implicated as risk factors for schizophrenia. Hum Mol Genet 17(5):747-758.
39. Thony B, Blau N. 2006. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase. Hum Mutat 27(9):870-878. (Pubitemid 44336936)
40. Tobler AR, Short S, Andersen MR, Paner TM, Briggs JC, Lambert SM, Wu PP, Wang Y, Spoonde AY, Koehler RT, Peyret N, Chen C, Broomer AJ, Ridzon DA, Zhou H, Hoo BS, Hayashibara KC, Leong LN, Ma CN, Rosenblum BB, Day JP, Ziegle JS, De La Vega FM, Rhodes MD, Hennessy KM, Wenz HM. 2005. The SNPlex genotyping system: A flexible and scalable platform for SNP genotyping. J Biomol Technol 16(4):398-406.
41. Weglage J, Grenzebach M, Pietsch M, Feldmann R, Linnenbank R, Denecke J, Koch HG. 2000. Behavioural and emotional problems in early-treated adolescents with phenylketonuria in comparison with diabetic patients and healthy controls. J Inherit Metab Dis 23(5):487-496. (Pubitemid 30487880)
42. Welsh MC, Pennington BF, Ozonoff S, Rouse B, McCabe ER. 1990. Neuropsychology of early-treated phenylketonuria: Specific executive function deficits. Child Dev 61(6):1697-1713.
43. Wilcox MA, Faraone SV, Su J, Van Eerdewegh P, Tsuang MT. 2002. Genome scan of three quantitative traits in schizophrenia pedigrees. Biol Psychiatry 52(9):847-854. (Pubitemid 35223427)
44. Wing JK BT, Brugha T, Burke J, Cooper JE, Giel R, Jablenski A, Regier D, Sartorius N. 1990. SCAN. Schedules for clinical assessment in neuropsychiatry. Arch Gen Psychiatry 47(6):589-593.
45. Yu CE, Seltman H, Peskind ER, Galloway N, Zhou PX, Rosenthal E, Wijsman EM, Tsuang DW, Devlin B, Schellenberg GD. 2007. Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: Patterns of linkage disequilibrium and disease/ marker association. Genomics 89(6):655-665. (Pubitemid 46719797)