Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia

被引:119
作者
Mansour, Hader A. [1 ]
Talkowski, Michael E. [1 ,2 ]
Wood, Joel [1 ]
Chowdari, KodavaliV [1 ]
McClain, Lora [1 ]
Prasad, Konasale [1 ]
Montrose, Debra [1 ]
Fagiolini, Andrea [3 ]
Friedman, Edward S. [1 ]
Allen, Michael H. [4 ]
Bowden, Charles L. [5 ]
Calabrese, Joseph [6 ]
El-Mallakh, Rif S. [7 ]
Escamilla, Michael [5 ]
Faraone, Stephen V. [8 ]
Fossey, Mark D. [9 ]
Gyulai, Laszlo [10 ]
Loftis, Jennifer M. [11 ,12 ]
Hauser, Peter [9 ,11 ,13 ]
Ketter, Terence A. [14 ]
Marangell, Lauren B. [15 ]
Miklowitz, David J. [16 ]
Nierenberg, Andrew A. [17 ]
Patel, Jayendra [18 ,19 ]
Sachs, Gary S. [20 ]
Sklar, Pamela [21 ]
Smoller, Jordan W. [22 ]
Laird, Nan [23 ]
Keshavan, Matcheri [1 ]
Thase, Michael E. [24 ]
Axelson, David [1 ]
Birmaher, Boris [1 ]
Lewis, David [1 ]
Monk, Tim [1 ]
Frank, Ellen [1 ]
Kupfer, David J. [1 ]
Devlin, Bernie [1 ]
Nimgaonkar, Vishwajit L. [1 ,2 ]
机构
[1] Univ Pittsburgh, Western Psychiat Inst & Clin, Sch Med, Dept Psychiat, Pittsburgh, PA 15213 USA
[2] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15213 USA
[3] Univ Siena, Sch Med, Dept Neurosci, I-53100 Siena, Italy
[4] Univ Colorado, Depress Ctr, Dept Psychiat, Denver, CO 80202 USA
[5] Univ Texas Hlth Sci Ctr San Antonio, Dept Psychiat, San Antonio, TX 78229 USA
[6] Case Western Reserve Univ, Univ Hosp Cleveland, Sch Med, Dept Psychiat,Mood Disorders Program, Cleveland, OH 44106 USA
[7] Univ Louisville, Sch Med, Dept Psychiat & Behav Sci, Louisville, KY 40292 USA
[8] SUNY Upstate Med Univ, Dept Psychiat & Human Behav, Syracuse, NY USA
[9] Univ Oklahoma, Dept Psychiat, Tulsa, OK USA
[10] Univ Penn, Med Ctr, Dept Psychiat, Philadelphia, PA 19104 USA
[11] Oregon Hlth & Sci Univ, Behav Hlth & Clin Neurosci Div, Portland VA Med Ctr, Portland, OR 97201 USA
[12] Oregon Hlth & Sci Univ, Dept Psychiat, Portland, OR 97201 USA
[13] Oregon Hlth & Sci Univ, Dept Behav Neurosci, Portland, OR 97201 USA
[14] Stanford Univ, Sch Med, Dept Psychiat & Behav Sci, Bipolar Disorders Clin, Stanford, CA 94305 USA
[15] Eli Lilly & Co, US Med Div, Indianapolis, IN 46285 USA
[16] Univ Colorado, Dept Psychol, Boulder, CO 80309 USA
[17] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Psychiat,Clin Depress & Res Program, Boston, MA USA
[18] Univ Massachusetts, Sch Med, Schizophrenia Res Program, Bipolar Disorder Program, Worcester, MA USA
[19] Univ Massachusetts, Sch Med, Dept Psychiat, Ctr Psychopharmacol Res & Treatment, Worcester, MA 01655 USA
[20] Harvard Univ, Massachusetts Gen Hosp, Sch Med, Dept Psychiat,Bipolar Clin & Res Program, Boston, MA USA
[21] Massachusetts Gen Hosp, Dept Psychiat, Ctr Human Genet Res, Psychiat & Neurodev Genet Unit, Boston, MA 02114 USA
[22] Massachusetts Gen Hosp, Dept Psychiat, Psychiat Genet Program Mood & Anxiety Disorders, Boston, MA 02114 USA
[23] Harvard Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA
[24] Univ Penn, Sch Med, Philadelphia VA Med Ctr, Philadelphia, PA 19104 USA
基金
美国国家卫生研究院;
关键词
association; bipolar disorder; circadian; gene; schizoaffective disorder; schizophrenia; GENOME-WIDE ASSOCIATION; SINGLE-NUCLEOTIDE-POLYMORPHISM; GLYCOGEN-SYNTHASE; MUTATIONAL ANALYSIS; SUGGESTIVE EVIDENCE; EUROPEAN-ANCESTRY; CANDIDATE GENES; CLOCK; LINKAGE; LITHIUM;
D O I
10.1111/j.1399-5618.2009.00756.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Objective: Published studies suggest associations between circadian gene polymorphisms and bipolar I disorder (BPI), as well as schizoaffective disorder (SZA) and schizophrenia (SZ). The results are plausible, based on prior studies of circadian abnormalities. As replications have not been attempted uniformly, we evaluated representative, common polymorphisms in all three disorders. Methods: We assayed 276 publicly available 'tag' single nucleotide polymorphisms (SNPs) at 21 circadian genes among 523 patients with BPI, 527 patients with SZ/SZA, and 477 screened adult controls. Detected associations were evaluated in relation to two published genome-wide association studies (GWAS). Results: Using gene-based tests, suggestive associations were noted between EGR3 and BPI (p = 0.017), and between NPAS2 and SZ/SZA (p = 0.034). Three SNPs were associated with both sets of disorders (NPAS2: rs13025524 and rs11123857; RORB: rs10491929; p < 0.05). None of the associations remained significant following corrections for multiple comparisons. Approximately 15% of the analyzed SNPs overlapped with an independent study that conducted GWAS for BPI; suggestive overlap between the GWAS analyses and ours was noted at ARNTL. Conclusions: Several suggestive, novel associations were detected with circadian genes and BPI and SZ/SZA, but the present analyses do not support associations with common polymorphisms that confer risk with odds ratios greater than 1.5. Additional analyses using adequately powered samples are warranted to further evaluate these results.
引用
收藏
页码:701 / 710
页数:10
相关论文
共 64 条
[1]   Genetic Mapping in Human Disease [J].
Altshuler, David ;
Daly, Mark J. ;
Lander, Eric S. .
SCIENCE, 2008, 322 (5903) :881-888
[2]   TESTS FOR LINEAR TRENDS IN PROPORTIONS AND FREQUENCIES [J].
ARMITAGE, P .
BIOMETRICS, 1955, 11 (03) :375-386
[3]   The power of genomic control [J].
Bacanu, SA ;
Devlin, B ;
Roeder, K .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 66 (06) :1933-1944
[4]   Meta-analysis of whole-genome linkage scans of bipolar disorder and schizophrenia [J].
Badner, JA ;
Gershon, ES .
MOLECULAR PSYCHIATRY, 2002, 7 (04) :405-411
[5]   A genome-wide association study implicates diacylglycerol kinase η (DGKH) and several other genes in the etiology of bipolar disorder [J].
Baum, A. E. ;
Akula, N. ;
Cabanero, M. ;
Cardona, I. ;
Corona, W. ;
Klemens, B. ;
Schulze, T. G. ;
Cichon, S. ;
Rietschel, M. ;
Noethen, M. M. ;
Georgi, A. ;
Schumacher, J. ;
Schwarz, M. ;
Abou Jamra, R. ;
Hoefels, S. ;
Propping, P. ;
Satagopan, J. ;
Detera-Wadleigh, S. D. ;
Hardy, J. ;
McMahon, F. J. .
MOLECULAR PSYCHIATRY, 2008, 13 (02) :197-207
[6]   A glycogen synthase kinase 3-β promoter gene single nucleotide polymorphism is associated with age at onset and response to total sleep deprivation in bipolar depression [J].
Benedetti, F ;
Serretti, A ;
Colombo, C ;
Lorenzi, C ;
Tubazio, V ;
Smeraldi, B .
NEUROSCIENCE LETTERS, 2004, 368 (02) :123-126
[7]   Review of bipolar molecular linkage and association studies. [J].
Berrettini W. .
Current Psychiatry Reports, 2002, 4 (2) :124-129
[8]  
BOSCH F, 1986, J BIOL CHEM, V261, P6927
[9]   Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].
Burton, Paul R. ;
Clayton, David G. ;
Cardon, Lon R. ;
Craddock, Nick ;
Deloukas, Panos ;
Duncanson, Audrey ;
Kwiatkowski, Dominic P. ;
McCarthy, Mark I. ;
Ouwehand, Willem H. ;
Samani, Nilesh J. ;
Todd, John A. ;
Donnelly, Peter ;
Barrett, Jeffrey C. ;
Davison, Dan ;
Easton, Doug ;
Evans, David ;
Leung, Hin-Tak ;
Marchini, Jonathan L. ;
Morris, Andrew P. ;
Spencer, Chris C. A. ;
Tobin, Martin D. ;
Attwood, Antony P. ;
Boorman, James P. ;
Cant, Barbara ;
Everson, Ursula ;
Hussey, Judith M. ;
Jolley, Jennifer D. ;
Knight, Alexandra S. ;
Koch, Kerstin ;
Meech, Elizabeth ;
Nutland, Sarah ;
Prowse, Christopher V. ;
Stevens, Helen E. ;
Taylor, Niall C. ;
Walters, Graham R. ;
Walker, Neil M. ;
Watkins, Nicholas A. ;
Winzer, Thilo ;
Jones, Richard W. ;
McArdle, Wendy L. ;
Ring, Susan M. ;
Strachan, David P. ;
Pembrey, Marcus ;
Breen, Gerome ;
St Clair, David ;
Caesar, Sian ;
Gordon-Smith, Katherine ;
Jones, Lisa ;
Fraser, Christine ;
Green, Elain K. .
NATURE, 2007, 447 (7145) :661-678
[10]   Association and linkage analyses of RGS4 polymorphisms in schizophrenia [J].
Chowdari, KV ;
Mirnics, K ;
Semwal, P ;
Wood, J ;
Lawrence, E ;
Bhatia, T ;
Deshpande, SN ;
K, TB ;
Ferrell, RE ;
Middleton, FA ;
Devlin, B ;
Levitt, P ;
Lewis, DA ;
Nimgaonkar, VL .
HUMAN MOLECULAR GENETICS, 2002, 11 (12) :1373-1380