Psychiatric Genetics

^{Joel Gelernter* and David Goldman
Psychiatry 116A2
West Haven VA Medical Center
950 Campbell Avenue
West Haven, CT 06516
phone: (203) 932-5711 ext. 3599}
fax: (203) 937-3897
e-mail: gelernter-joel@cs.yale.edu

Aita VM, Liu J, Knowles JA, Terwilliger JD, Baltazar R, Grunn A, Loth JE, Kanyas K, Lerer B, Endicott J, Wang Z, Penchaszadeh G, Gilliam TC, and Baron M: A comprehensive linkage analysis of chromosome 21q22 supports prior evidence for a putative bipolar affective disorder locus. Am J Hum Genet 64: 210-217 1999.

Baron M, Freimer NF, Risch N, Lerer B, Alexander JR, Straub RE, Asokan S, Das K, Peterson A, Amos J, et al.: Diminished support for linkage between manic depressive illness and X-chromosome markers in three Israeli pedigrees. Nat Genet. 1993;3:49-55

Baron M, Risch N, Hamburger R, et al. Genetic linkage between X-chromosome markers and bipolar affective illness. Nature. 1987; 326:289-92.

Bassett AS, Hodgkinson K, Chow EWC, Correia S, Scutt LE, and Weksberg R: 22q11 deletion syndrome in adults with schizophrenia. Am J Med Genet 1998;81:328-337

Berrettini WH, Ferraro TN, Goldin LR, Weeks DE, Detera-Wadleigh S, Nurnberger JI, Jr. and Gershon ES (1994): Chromosome 18 DNA markers and manic-depressive illness: evidence for a susceptibility gene. Proc. Nat. Acad. Sci. 91: 5918-5921

Bertelsen A, Harvald B, and Hauge M: A Danish twin study of manic-depressive disorders. British Journal of Psychiatry 1977;130:330-351

Bierut LJ, Dinwiddie SH, Begleiter H, Crowe RR, Hesselbrock V, Nurnberger JI, Porjesz B, Schuckit MA, and Reich T: Familial transmission of substance dependence: alcohol, marijuana, and habitual smoking. Arch Gen Psychiatry 1998;55:982-988

Blouin J-L, Dombroski BA, Nath SK, Lasseter VK, Wolyniec PS, Nestadt G, Thornquist M, Ullrich G, McGrath J, Kasch L, Lamacz M, Thomas MG, Gehrig C, Radhakrishna U, Snyder SE, Balk KG, Neufeld K, Swartz KL, DeMarchi N, Papadimitriou GN, Dikeos DG, Stefanis CN, Chakravarti A, Childs B, Housman DE, Kazazian HH, Antonarakis SE, and Pulver AE: Schizophrenia susceptibility loci on chromosome 13q32 and 8p21. Nat Genet 1998;20:70-73

Botstein D, White RL, Skolnick M and Davis RW: Construction of a genetic linkage map in man using restriction fragment length polymorphism Am J Hum Genet 32: 314-331, 1980.

Brunner HG, Nelen M, Breakefield XO, Ropers HH, and van Oost BA (1993b): Abnormal behavior associated with a point mutation in the structural gene for monoamine oxidase A. Science 262:578-580

Cotton RGH, Rodrigues NR, Campbell RD: Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations. PNAS 85: 4397-4401, 1988.

Detera-Wadleigh SD, Badner JA, Goldin LR, Berrettini WH, Sanders AR, Rollins DY, Turner G, Moses T, Haerian H, Muniec D, Nurnberger JI Jr, and Gershon ES. Affected-sib-pair analyses reveal support of prior evidence for a susceptibility locus for bipolar disorder, on 21q. American Journal of Human Genetics. 1996;58:1279-85, 1996

Edenberg HJ, Foroud T, Koller DL, Goate A, Rice J, Van Eerdewegh P, Reich T, Cloninger CR, Nurnberger JI Jr, Kowalczuk M, Wu B, Li T-K, Conneally PM, Tischfield JA, Wu W, Shears S, Crowe R, Hesselbrock V, Schuckit M, Porjesz B, and Begleiter H (1998): A family-based analysis of the association of the dopamine D2 receptor (DRD2) with alcoholism. Alcohol Clin Exp Res 22:505-512

Egeland JA, Gerhard DS, Pauls DL, et al. Bipolar affective disorders linked to DNA markers on chromosome 11. Nature. 1987; 325:783-787.

Falk CT and Rubinstein P (1987): Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations. Ann Hum Genet 51:227-233

Fischer SF and Lerman LS: DNA fragments differing by a single base-pair substitution are separated in denaturing gradient gels: correspondence with melting theory. PNAS 80: 1579, 1983.

Freedman R, Coon H, Myles-Worsley M, Orr-Urtreger A, Olincy A, Davis A, Polymeropoulos M, Holik J, Hopkins J, Hoff M, Rosenthal J, Waldo MC, Reimherr F, Wender P, Yaw J, Young DA, Breese CR, Adams C, Patterson D, Adler LE, Kruglyak L, Leonard S, and Byerley W: Linkage of a neurophysiological deficit in schizophrenia to a chromosome 15 locus. Proc Natl Acad Sci USA 1997;94:587-592

Freimer NB, Reus VI, Escamilla MA, et al. Genetic mapping using haplotype, association and linkage methods suggests a locus for severe bipolar disorder (BPI) at 18q22-q23. Nat Genet. 1996; 12:436-441.

Gelernter J and Kranzler H: D2 dopamine receptor gene (DRD2) allele and haplotype frequencies in alcohol dependent and control subjects: no association with phenotype or severity of phenotype. In press, Neuropsychopharmacology

Gelernter J, Kranzler H, and Lacobelle J: Population studies of polymorphisms at loci of neuropsychiatric interest (tryptophan hydroxylase (TPH), dopamine transporter protein (SLC6A3), D3 dopamine receptor (DRD3), apolipoprotein E (APOE), μ opioid receptor (OPRM1), and ciliary neurotrophic factor (CNTF)). Genomics 1998;52:289-297

Gelernter J: Genetic factors in alcoholism: evidence and implications. In, Handbook of experimental pharmacology, Vol 114: the pharmacology of alcohol abuse. Kranzler H, ed. p. 297-313 (1995) Springer-Verlag Berlin Heidelberg

Gelernter J, Goldman D, and Risch N: The A1 allele at the D₂ dopamine receptor gene and alcoholism: a reappraisal (1993) JAMA 269:1673-1677

Gershon ES, Hamovit J, Guroff JJ, Dibble E, Leckman JF, Sceery W, Targum SD, Nurnberger JI, Goldin LR, and Bunney WE (1982): A family study of schizoaffective, bipolar I, bipolar II, unipolar, and normal control probands. Arch Gen Psychiatry 39:1157-1167

Gershon ES, Badner JA, Detera-Wadleigh SD, Ferraro TN, and Berrettini WH: Maternal inheritance and chromosome 18 allele sharing in unilineal bipolar illness pedigrees. Am J Med Genet (Neuropsych Genet) 1996;67:202-207

Gill M, Vallada H, Collier D, Sham P, Holmans P, Murray R, McGuffin P, Nanko S, Owen M, Antonarakis S, Housman D, Kazazian H, Nestadt G, Pulver AE, Straub RE, MacLean CJ, Walsh D, Kendler KS, DeLisi L, Polymeropoulos M, Coon H, Byerley W, Lofthouse R, Gershon E, Golden L, Crow T, Byerley W, Coon H, Freedman R, Laurent C, Bodeau-Pean S, d'Amato T, Jay M, Campion D, Mallet J, Wildenauer DB, Lerer B, Albus M, Ackenheil M, Ebstein RP, Hallmayer J, Maier W, Gurling H, Curtis D, Kalsi G, Brynjolfsson J, Sigmundson T, and Petursson H: A combined analysis of D22S278 marker alleles in affected sib-pairs: support for a susceptibility locus for schizophrenia at chromosome 22q12. Schizophrenia Collaborative Linkage Group (Chromosome 22). American Journal of Medical Genetics. 67:40-45, 1996

Goedde HW, Harada S, Agarwal DP: Racial differences in alcohol sensitivity: a new hypothesis. Hum. Genet. 1979;51:331-334

Goldman D, Urbanek M, Guenther D, Robin R, Long JC: Linkage and association of a functional DRD2 variant [Ser311Cys] and DRD2 markers to alcoholism, substance abuse and schizophrenia in Southwestern American Indians (1997): Am J Med Genet. 74:386-94

Goldman D and Bergen A: General and specific inheritance of substance abuse and alcoholism Archives of General Psychiatry. 1998;55:964-965

Hamer DH, Hu S, Magnuson VL, Hu N and Pattatucci AML (1993): A linkage between DNA markers on the X chromosome and male sexual orientation. Science 261: 321-327

Hansson JH, Nelson-Williams C, Suzuki H, Schild L, Shimkets R, Lu Y, Canessa C, Iwasaki T, Rossier B, and Lifton RP. Hypertension caused by a truncated epithelial sodium channel gamma subunit: genetic heterogeneity of Liddle syndrome. Nature Genetics. 1995;11:76-82

Hu S, Pattatucci AM, Patterson C, Li L, Fulker DW, Cherny SS, Kruglyak L, and Hamer DH: Linkage between sexual orientation and chromosome Xq28 in males but not in females. Nat Genet. 1995;11:248-256

Huber CG, Oefner PJ, Preuss E, Bonn GK: High resolution liquid chromatography of DNA fragments on non-porous poly(styrene-divinylbenzene) particles. Nucleic Acids Res 21:1061-1066, 1993.

Karayiorgou M, Morris MA, Morrow B, Shprintzen BJ, Goldberg R, Borrow J, Gos A, Nestadt G, Wolyniec PS, Lasseter VK et al: Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11. Proc Natl Acad Sci USA 1995;92:7612-7616

Kelsoe JR, Ginns EI, Egeland JA, et al. Re-evaluation of the linkage relationship between chromosome 11p loci and the gene for bipolar affective disorder in the Old Order Amish. Nature. 1989; 342:238-243.

Kendler KS, Heath AC, Neale MC, Kessler RC, and Eaves LJ (1992) A population-based twin study of alcoholism in women. JAMA 268:1877-1882

Kendler KS, Prescott CA, Neale MC, and Pedersen NL: Temperance board registration for alcohol abuse in a national sample of Swedish male twins, born 1902 to 1949. Arch Gen Psychiatry 1997;54:178-184

Lander ES: Array of hope. Nat Genet 1999;21:3-4

Lesch K-P, Bengel D, Heils A, Sabol SZ, Greenberg B, Petri S, Benjamin J, Müller CR, Hamer DH, and Murphy DL: Association of anxiety -related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 1996;274:1527-1531

Lishanski A, Ostrander EA, Rine : Mutation detection by mismatch binding protein, MutS, in amplified DNA: application to the cystic fibrosis gene. PNAS 91: 2674-2678, 1994.

Long JC, Knowler WC, Hanson RL, Robin RW, Urbanek M, Moore E, Bennett PH, and Goldman D: Evidence for genetic linkage to alcohol dependence on chromosomes 4 and 11 from an autosome-wide scan in an American Indian population. American Journal of Medical Genetics. 1998;81:216-221

Mansfield TA, Simon DB, Farfel Z, Bia M, Tucci JR, Lebel M, Gutkin M, Vialettes B, Christofilis MA, Kauppinen-Makelin R, Mayan H, Risch N, and Lifton RP. Multilocus linkage of familial hyperkalaemia and hypertension, pseudohypoaldosteronism type II, to chromosomes 1q31-42 and 17p11-q21. Nature Genetics. 1997;16:202-205

Mendlewicz J and Rainer JD: Adoption study supporting genetic transmission in manic--depressive illness. Nature. 1977;268:327-329.

Mendlewicz J, Linkowski P, Guroff JJ, and Van Praag HM: Colorblindness linkage to bipolar manic-depressive illness. Arch Gen Psychiatry 1979; 36:1442-1447

Merikangas KR, Stolar M, Stevens DE, Goulet J, Preisig MA, Fenton B, Zhang H, O'Malley SS, and Rounsaville BJ: Familial transmission of substance use disorders. Arch Gen Psychiatry 1998;55:973-979

Orita M, Iwahana H and Kanazawa H: Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms PNAS 86: 2766-2770, 1989

Ott J: Statistical properties of the haplotype relative risk. Genetic Epidemiology 1989;6:127-130

Pease AC, Solas EJ, Sullivan MT, Cronin CP, Holmes CP, Fodor SPA: Light-generated oligonucleotide arrays for rapid DNA sequence analysis. PNAS 91:5022-5026, 1994.

Pulver AE, Nestadt G, Goldberg R, Shprintzen RJ, Lamacz M, Wolyniec PS, Morrow B, Karayiorgou M, Antonarakis SE, Housman D, and Kucherlapati R: Psychotic illness in patients diagnosed with velo-cardio-facial syndrome and their relatives. J Nerv Ment Dis 1994;182:476-478

Reich T, Edenberg HJ, Goate A, Williams JT, Rice JP, Van Eerdewegh P, Foroud T, Hesselbrock V, Schuckit MA, Bucholz K, Porjesz B, Li T-K, Conneally PM, Nurnberger JI Jr, Tischfield JA, Crowe RR, Cloninger CR, Wu W, Shears S, Carr K, Crose C, Willig C, Begleiter H (1998) Genome-wide search for genes affecting the risk for alcohol dependence. Am J Med Genet (Neuropsychiat Genet) 81:207-215

Rice J: Genetic analysis of bipolar disorder: summary of GAW10. Genetic Epidemiology 1997;14:549-561

Risch N And Merikangas K (1996) The future of genetic studies of complex human diseases. Science 273:1516-1517

Risch N, Squires-Wheeler E, and Keats BJB: Male sexual orientation and genetic evidence. Science 1993;262:2063-2065

Risch N and Botstein DL: A manic depressive history. Nat Genet 1996;12:351-353

Sarkar G, Yoon HS, and Sommer SS: Dideoxy fingerprinting (ddF): A rapid and efficient screen for the presence of mutations. Genomics 13:441-443, 1992.

Schwab SG, Albus M, Hallmayer J, Hönig S, Borrman M, Lichtermann D, Ebstein RP, Ackenheil M, Lerer B, Risch N, Maier W, and Wildnauer DB (1995) Evaluation of a susceptibility gene for schizophrenia on chromosome 6p by multipoint affected sib-pair linkage analysis. Nature Genet. 11:325-327.

Smyth C, Kalsi G, Curtis D, Brynjolfsson J, O'Neill J, Rifkin L, Moloney E, Murphy P, Petursson H, and Gurling H: Two-locus admixture linkage analysis of bipolar and unipolar affective disorder supports the presence of susceptibility loci on chromosomes 11p15 and 21q22. Genomics 1997;39:271-278

Spielman RS, McGinnis RE, Ewens WJ (1993) Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am J Hum Genet 52:506-16.

Spielman RS, Ewens WJ. A sibship test for linkage in the presence of association: the sib transmission/disequilibrium test. Am J Hum Genet 1998; 62:450-458.

Spielman RS and Ewens WJ: The TDT and other family-based tests for linkage disequilibrium and association. Am J Hum Genet 1996;59:983-989

Stine OC, Xu J, Koskela R, et al. Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Am J Hum Genet. 1995; 57:1384-1394.

Straub RE, MacLean CJ, O'Neill FA, Burke J, Murphy B, Duke F, Shinkwin R, Webb BT, Zhang J, Walsh D, et al: A potential vulnerability locus for schizophrenia on chromosome 6p24-22: evidence for genetic heterogeneity. Nat Genet 1995 3:287-93

Straub RE, Lehner T, Luo Y, Loth JE, Shao W, Sharpe L, Alexander JR, Das K, Simon R, Fieve RR, Lerer B, Endicott J, Ott J, Gilliam TC and Baron M (1994): A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3. Nature Genet. 8: 291-296

Terwilliger JD and Ott J: A haplotype-based 'haplotype relative risk' approach to detecting allelic associations. Human Heredity. 1992;42:337-346

Thomasson HR, Edenberg HJ, Crabb DW, Mai XL, Jerome RE, Li TK, Wang SP, Lin YT, Lu RB, and Yin SJ: Alcohol and aldehyde dehydrogenase genotypes and alcoholism in Chinese men. Am J Hum Genet 1991;48:677-681

Tsuang MT, Lyons MJ, Meyer JM, Doyle T, Eisen SA, Goldberg J, True W, Lin N, Toomey R, and Eaves L: Co-occurrence of abuse of different drugs in men; the role of drug-specific and shared vulnerabilities. Arch Gen Psychiatry 1998;55:967-972

Tsuang, M.T., Lyons, M.J., Eisen, S.A., Goldberg, J, True, Lin N, W, Meyer, JM, Tooney R, Faraone SV, and Eaves, L. Genetic influences on DSM-III-R drug abuse and dependence: A study of 3,372 twin pairs. Am J Med Genet (Neuropsych. Genet) 1996;67:473-477

Wang S, Sun S-e, Walczak CA, Ziegle JS, Kipps BR, Goldin LR and Diehl SR: Evidence for a susceptibility locus for schizophrenia on chromosome 6pter-p22. Nat Genet 1995;10:41-46

Youil R, Kemper BW, and Cotton RGH: Screening for point mutations by enzyme mismatch cleavage with T4 endonuclease VII PNAS 92:87-90, 1995.

Back to Chapter

published 2000