Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: Differential involvement of immune-related gene loci

Molecular Psychiatry

Volumn 20, Issue 2, 2015, Pages 207-214

  Andreassen, O A ^a,b,c   Harbo, H F ^a   Wang, Y ^a,b,d,e   Thompson, W K ^c   Schork, A J ^d,f   Mattingsdal, M ^a,g   Zuber, V ^a,b   Bettella, F ^a,b   Ripke, S ^h,i   Kelsoe, J R ^c   Kendler, K S ^j   O'Donovan, M C ^k   Sklar, P ^l   McEvoy, L K ^d,m   Desikan, R S ^d,m   Lie, B A ^b   Djurovic, S ^a,b   Dale, A M ^c,d,e,m  

^a UNIVERSITY OF OSLO   (Norway)

^b OSLO UNIVERSITY HOSPITAL   (Norway)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f University of California   (United States)

^g Sørlandet Hospital   (Norway)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^j VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^k CARDIFF UNIVERSITY   (United Kingdom)

^l MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^m UNIVERSITY OF CALIFORNIA   (United States)

more..

Author keywords

false discovery rate; HLA region; multiple sclerosis; polygenic pleiotropy; schizophrenia

Indexed keywords

HLA B ANTIGEN; HLA C ANTIGEN; HLA DQA1 ANTIGEN; HLA DQB1 ANTIGEN; HLA DRB1 ANTIGEN; HLA ANTIGEN;

ALLELE; ARTICLE; BIPOLAR DISORDER; CHROMOSOME 6; CONTROLLED STUDY; DEMYELINATING DISEASE; GENE FREQUENCY; GENE LOCUS; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MAJOR HISTOCOMPATIBILITY COMPLEX; MULTIPLE SCLEROSIS; PLEIOTROPY; PRIORITY JOURNAL; SCHIZOPHRENIA; SINGLE NUCLEOTIDE POLYMORPHISM; FEMALE; FOLLOW UP; GENETIC PREDISPOSITION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; MALE;

BIPOLAR DISORDER; FEMALE; FOLLOW-UP STUDIES; GENETIC PLEIOTROPY; GENETIC PREDISPOSITION TO DISEASE; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HLA ANTIGENS; HUMANS; MALE; MULTIPLE SCLEROSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA;

EID: 84926348812     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2013.195     Document Type: Article

References (39)

1. Murray CJL. Health HSOP, World Health Organization Bank W. The globals burden of disease: A comprehensive assessment of mortality, injuries, and risk factors in 1990 and projected to 2020, 1st edn. Harvard School of Public Health: Cambridge MA, 1996.
2. Olesen J, Leonardi M. The burden of brain diseases in Europe. Eur J Neurol 2003; 10: 471-477.
3. Craddock N, Owen MJ. The beginning of the end for the Kraepelinian dichotomy. Br J Psychiatry 2005; 186: 364-366.
4. Editorial. A decade for psychiatric disorders. Nature 2010; 463: 9.
5. Arias I, Sorlozano A, Villegas E, de Dios Luna J, McKenney K, Cervilla J et al. Infectious agents associated with schizophrenia: a meta-analysis. Schizophr Res 2012; 136: 128-136.
6. Hope S, Melle I, Aukrust P, Steen NE, Birkenaes AB, Lorentzen S et al. Similar immune profile in bipolar disorder and schizophrenia: selective increase in soluble tumor necrosis factor receptor I and von Willebrand factor. Bipolar Disord 2009; 11: 726-734.
7. Schizophrenia Psychiatric Genome-Wide Association Study (GWAS) Consortium. Genome-wide association study identifies five new schizophrenia loci. Nat Genet 2011; 43: 969-976.
8. Stefansson H, Ophoff RA, Steinberg S, Andreassen OA, Cichon S, Rujescu D et al. Common variants conferring risk of schizophrenia. Nature 2009; 460: 744-747.
9. Ripke S, O'Dushlaine C, Chambert K, Moran JL, Kähler AK, Akterin S et al. Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet 2013; 45: 1150-1159.
10. Purcell SM, Wray NR, Stone JL, Visscher PM, O'Donovan MC, Sullivan PF et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009; 460: 748-752.
11. Shatz CJ. MHC class I: an unexpected role in neuronal plasticity. Neuron 2009; 64: 40-45.
12. Goldstein BI, Kemp DE, Soczynska JK, McIntyre RS. Inflammation and the phenomenology, pathophysiology, comorbidity, and treatment of bipolar disorder: a systematic review of the literature. J Clin Psychiatry 2009; 70: 1078-1090.
13. Psychiatric GWAS Consortium Bipolar Disorder Working Group. Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4. Nat Genet 2011; 43: 977-983.
14. Andreassen OA, Thompson WK, Schork AJ, Ripke S, Mattingsdal M, Kelsoe JR et al. Improved detection of common variants associated with schizophrenia and bipolar disorder using pleiotropy-informed conditional false discovery rate. PLoS Genet 2013; 9: e1003455.
15. Gourraud P-A, Harbo HF, Hauser SL, Baranzini SE. The genetics of multiple sclerosis: an up-to-date review. Immunol Rev 2012; 248: 87-103.
16. International Multiple Sclerosis Genetics Consortium, Wellcome Trust Case Control Consortium 2, Sawcer S, Hellenthal G, Pirinen M, Spencer CCA, Patsopoulos NA, Moutsianas L et al. Genetic risk and a primary role for cellmediated immune mechanisms in multiple sclerosis. Nature 2011; 476: 214-219.
17. de Jager PL, Jia X, Wang J, de Bakker PIW, Ottoboni L, Aggarwal NT et al. Metaanalysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci. Nat Genet 2009; 41: 776-782.
18. Gourraud P-A, Sdika M, Khankhanian P, Henry RG, Beheshtian A, Matthews PM et al. A genome-wide association study of brain lesion distribution in multiple sclerosis. Brain 2013; 136: 1012-1024.
19. Patsopoulos NA, Bayer Pharma MS. Genetics Working Group, Steering Committees of Studies Evaluating IFNβ-1b and a CCR1-Antagonist, ANZgene Consortium, GeneMSA, International Multiple Sclerosis Genetics Consortium et al. Genomewide meta-analysis identifies novel multiple sclerosis susceptibility loci. Ann Neurol 2011; 70: 897-912.
20. Compston A, Coles A. Multiple sclerosis. Lancet 2008; 372: 1502-1517.
21. Takahashi N, Sakurai T, Davis KL, Buxbaum JD.. Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia. Prog Neurobiol 2011; 93: 13-24.
22. Sivakumaran S, Agakov F, Theodoratou E, Prendergast JG, Zgaga L, Manolio T et al. Abundant pleiotropy in human complex diseases and traits. Am J Hum Genet 2011; 89: 607-618.
23. Chambers JC, Zhang W, Sehmi J, Li X, Wass MN, van der Harst P et al. Genomewide association study identifies loci influencing concentrations of liver enzymes in plasma. Nat Genet 2011; 43: 1131-1138.
24. Andreassen OA, Djurovic S, Thompson WK, Schork AJ, Kendler KS, O'Donovan MC et al. Improved detection of common variants associated with schizophrenia by leveraging pleiotropy with cardiovascular-disease risk factors. Am J Hum Genet 2013; 92: 197-209.
25. Liu JZ, Hov JR, Folseraas T, Ellinghaus E, Rushbrook SM, Doncheva NT et al. Dense genotyping of immune-related disease regions identifies nine new risk loci for primary sclerosing cholangitis. Nat Genet 2013; 45: 670-675.
26. Major Depressive Disorder Working Group of the Psychiatric GWAS Consortium, Ripke S, Wray NR, Lewis CM, Hamilton SP, Weissman MM et al. A mega-analysis of genome-wide association studies for major depressive disorder. Mol Psychiatry 2013; 18: 497-511.
27. Cross-Disorder Group of the Psychiatric Genomics Consortium, Smoller JW, Craddock N, Kendler K, Lee PH, Neale BM et al. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet 2013; 381: 1371-1379.
28. Neale BM, Medland SE, Ripke S, Asherson P, Franke B, Lesch K-P et al. Metaanalysis of genome-wide association studies of attention-deficit/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry 2010; 49: 884-897.
29. Benjamini Y, Hochberg Y.. Controlling the False Discovery Rate: A Practical and Powerful Approach to Multiple Testing. J R Stat Soc Series B Stat Methodol 1995; 57: 289-300.
30. Schork AJ, Thompson WK, Pham P, Torkamani A, Roddey JC, Sullivan PF et al. All SNPs Are Not Created Equal: Genome-Wide Association Studies Reveal a Consistent Pattern of Enrichment among Functionally Annotated SNPs. PLoS Genet 2013; 9: e1003449.
31. Zheng X, Shen J, Cox C, Wakefield JC, Ehm MG, Nelson MR et al. HIBAG-HLA genotype imputation with attribute bagging. Pharmacogenomics J advance online publication, 28 May 2013; doi:10.1038/tpj.2013.18 (e-pub ahead of print).
32. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MAR, Bender D et al. PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses. Am J Hum Genet 2007; 81: 559-575.
33. Shi J, Levinson DF, Duan J, Sanders AR, Zheng Y, Pe'er I et al. Common variants on chromosome 6p22.1 are associated with schizophrenia. Nature 2009; 460: 753-757.
34. Hope S, Melle I, Aukrust P, Agartz I, Lorentzen S, Steen NE et al. Osteoprotegerin levels in patients with severe mental disorders. J Psychiatry Neurosci 2010; 35: 304-310.
35. Yolken RH, Torrey EF. Are some cases of psychosis caused by microbial agents? A review of the evidence. Mol Psychiatry 2008; 13: 470-479.
36. Karoutzou G, Emrich HM, Dietrich DE. The myelin-pathogenesis puzzle in schizophrenia: a literature review. Mol Psychiatry 2008; 13: 245-260.
37. Abi-Rached L, Jobin MJ, Kulkarni S, McWhinnie A, Dalva K, Gragert L et al. The shaping of modern human immune systems by multiregional admixture with archaic humans. Science 2011; 334: 89-94.
38. Sullivan PF, Daly MJ, O'Donovan M. Genetic architectures of psychiatric disorders: the emerging picture and its implications. Nat Rev Genet 2012; 13: 537-551.
39. Gershon ES, Alliey-Rodriguez N, Liu C. After GWAS: searching for genetic risk for schizophrenia and bipolar disorder. Am J Psychiatry 2011; 168: 253-256.