Identification of autoimmune gene signatures in autism

Translational Psychiatry

Volumn 1, Issue , 2011, Pages

  Jung, J Y ^a   Kohane, I S ^a,b,c   Wall, D P ^a,d  

^a Harvard Medical School Center for Biomedical Informatics   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c I2b2 National Center for Biomedical Computing   (United States)

^d BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

Author keywords

autism spectrum disorder; autoimmune disorder; cross disease analysis; genetic variation score; polygenic score

Indexed keywords

ADULT; ARTICLE; AUTISM; AUTOIMMUNE DISEASE; CHILD; COHORT ANALYSIS; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; GENETICS; HUMAN; IMMUNOLOGY; MALE; MULTIFACTORIAL INHERITANCE; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AUTOIMMUNE DISEASES; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; COHORT STUDIES; FEMALE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; MALE; MULTIFACTORIAL INHERITANCE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 83755167956     PISSN: None     EISSN: 21583188     Source Type: Journal    
DOI: 10.1038/tp.2011.62     Document Type: Article

References (51)

1. Fombonne E. Epidemiology of pervasive developmental disorders. Pediatr Res 2009; 65: 591-598.
2. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E et al. Autism as a strongly genetic disorder: Evidence from a British twin study. Psychol Med 1995; 25: 63-77.
3. Ronald A, Hoekstra RA. Autism spectrum disorders and autistic traits: A decade of new twin studies. Am J Med Genet B Neuropsychiatr Genet 2011; 156: 255-274.
4. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS et al. Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 2009; 459: 528-533.
5. Weiss LA, Arking DE, Daly MJ, Chakravarti A, Arking DE, Brune CW et al. A genome-wide linkage and association scan reveals novel loci for autism. Nature 2009; 461: 802-808.
6. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR et al. A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 2010; 19: 4072-4082.
7. Sebat J, Lakshmi B, Malhotra D, Troge J, Lese-Martin C, Walsh T et al. Strong association of de novo copy number mutations with autism. Science 2007; 316: 445-449. (Pubitemid 46651493)
8. Weiss LA, Shen Y, Korn JM, Arking DE, Miller DT, Fossdal R et al. Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med 2008; 358: 667-675. (Pubitemid 351240746)
9. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S et al. Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 2009; 459: 569-573.
10. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R et al. Functional impact of global rare copy number variation in autism spectrum disorders. Nature 2010; 466: 368-372.
11. Folstein SE, Rosen-Sheidley B. Genetics of autism: Complex aetiology for a heterogeneous disorder. Nat Rev Genet 2001; 2: 943-955. (Pubitemid 33691091)
12. Geschwind DH. Advances in autism. Annu Rev Med 2009; 60: 367-380.
13. Wall DP, Esteban FJ, Deluca TF, Huyck M, Monaghan T, Velez de Mendizabal N et al. Comparative analysis of neurological disorders focuses genome-wide search for autism genes. Genomics 2009; 93: 120-129.
14. Money J, Bobrow NA, Clarke FC. Autism and autoimmune disease: A family study. J Autism Child Schizophr 1971; 1: 146-160.
15. Licinio J, Wong ML. The role of inflammatory mediators in the biology of major depression: Central nervous system cytokines modulate the biological substrate of depressive symptoms, regulate stress-responsive systems, and contribute to neurotoxicity and neuroprotection. Mol Psychiatry 1999; 4: 317-327. (Pubitemid 29440570)
16. Korvatska E, Van de Water J, Anders TF, Gershwin ME. Genetic and immunologic considerations in autism. Neurobiol Dis 2002; 9: 107-125. (Pubitemid 34261208)
17. Atladóttir HO, Pedersen MG, Thorsen P, Mortensen PB, Deleuran B, Eaton WW et al. Association of family history of autoimmune diseases and autism spectrum disorders. Pediatrics 2009; 124: 687-694.
18. Croen LA, Grether JK, Yoshida CK, Odouli R, Van de Water J. Maternal autoimmune diseases, asthma and allergies, and childhood autism spectrum disorders. a case-control study. Arch Pediatr Adolesc Med 2005; 159: 151-157. (Pubitemid 40194181)
19. Mouridsen SE, Rich B, Isager T, Nedergaard NJ. Autoimmune diseases in parents of children with infantile autism: A case-control study. Dev Med Child Neurol 2007; 49: 429-432. (Pubitemid 46845376)
20. Sweeten TL, Bowyer SL, Posey DJ, Halberstadt GM, McDougle CJ. Increased prevalence of familial autoimmunity in probands with pervasive developmental disorders. Pediatrics 2003; 112: E420.
21. Molloy CA, Morrow AL, Meinzen-Derr J, Schleifer K, Dienger K, Manning-Courtney P et al. Elevated cytokine levels in children with autism spectrum disorder. J Neuroimmunol 2006; 172: 198-205. (Pubitemid 43277506)
22. Li X, Chauhan A, Sheikh AM, Patil S, Chauhan V, Li XM et al. Elevated immune response in the brain of autistic patients. J Neuroimmunol 2009; 207: 111-116.
23. Ashwood P, Krakowiak P, Hertz-Picciotto I, Hansen R, Pessah I, Van de Water J. Elevated plasma cytokines in autism spectrum disorders provide evidence of immune dysfunction and are associated with impaired behavioral outcome. Brain Behav Immun 2011; 25: 40-45.
24. Croonenberghs J, Wauters A, Devreese K, Verkerk R, Scharpe S, Bosmans E et al. Increased serum albumin, gamma globulin, immunoglobulin IgG, and IgG2 and IgG4 in autism. Psychol Med 2002; 32: 1457-1463. (Pubitemid 35385656)
25. Enstrom A, Krakowiak P, Onore C, Pessah IN, Hertz-Picciotto I, Hansen RL et al. Increased IgG4 levels in children with autism disorder. Brain Behav Immun 2009; 23: 389-395.
26. Angelidou A, Francis K, Vasiadi M, Alysandratos KD, Zhang B, Theoharides A et al. Neurotensin is increased in serum of young children with autistic disorder. J Neuroinflammation 2010; 7: 48.
27. Torres AR, Maciulis A, Stubbs EG, Cutler A, Odell D. The transmission disequilibrium test suggests that HLA-DR4 and DR13 are linked to autism spectrum disorder. Hum Immunol 2002; 63: 311-316. (Pubitemid 34303702)
28. Johnson WG, Buyske S, Mars AE, Sreenath M, Stenroos ES, Williams TA et al. HLA-DR4 as a risk allele for autism acting in mothers of probands possibly during pregnancy. Arch Pediatr Adolesc Med 2009; 163: 542-546.
29. Torres AR, Sweeten TL, Cutler A, Bedke BJ, Fillmore M, Stubbs EG et al. The association and linkage of the HLA-A2 class I allele with autism. Hum Immunol 2006; 67: 346-351. (Pubitemid 43729354)
30. Odell D, Maciulis A, Cutler A, Warren L, McMahon WM, Coon H et al. Confirmation of the association of the C4B null allele in autism. Hum Immunol 2005; 66: 140-145. (Pubitemid 40208201)
31. Lajonchere CM, Brown WT, Bucan M, Cantor R, Constantino J, Geschwind D et al. Changing the landscape of autism research: The autism genetic resource exchange. Neuron 2010; 68: 187-191.
32. Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview-Revised: A revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 1994; 24: 659-685. (Pubitemid 24309810)
33. Lord C, Rutter M, Goode S, Heemsbergen J, Jordan H, Mawhood L et al. Autism diagnostic observation schedule: A standardized observation of communicative and social behavior. J Autism Dev Disord 1989; 19: 185-212. (Pubitemid 19176529)
34. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, 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. (Pubitemid 47330214)
35. Ewens WJ, Spielman RS. The transmission/disequilibrium test. history, subdivision, and admixture. Am J Hum Genet 1995; 57: 455-464.
36. Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet 2007; 39: 1329-1337. (Pubitemid 350041542)
37. Burton PR, Clayton DG, Cardon LR, Craddock N, Deloukas P, Duncanson A et al. Genome-wide association study of 14 000 cases of seven common diseases and 3000 shared controls. Nature 2007; 447: 661-678. (Pubitemid 46889737)
38. International Schizophrenia Consortium, Purcell SM, Wray NR, Stone JL,Visscher PM, O'Donovan MC et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder. Nature 2009; 460: 748-752.
39. National Institutes of Health, The Autoimmune Diseases Coordinating Committee. Progress in autoimmune diseases research. 2005; http://www.niaid.nih. gov/topics/autoimmune/Documents/adccfinal.pdf.
40. Nagelkerke N. A note on a general definition of the coefficient of determination. Biometrika 1991; 78: 691.
41. Sirota M, Schaub MA, Batzoglou S, Robinson WH, Butte AJ. Autoimmune disease classification by inverse association with SNP alleles. PLoS Genet 2009; 5: E1000792.
42. Calin A, Brophy S, Blake D. Impact of sex on inheritance of ankylosing spondylitis: A cohort study. Lancet 1999; 354: 1687-1690. (Pubitemid 29533059)
43. Newschaffer CJ, Croen LA, Daniels J, Giarelli E, Grether JK, Levy SE. et al. The epidemiology of autism spectrum disorders. Annu Rev Public Health 2007; 28: 235-258. (Pubitemid 46833342)
44. Compston A, Coles A. Multiple sclerosis. Lancet 2008; 372: 1502-1517.
45. Alonso A, Hernan MA. Temporal trends in the incidence of multiple sclerosis. a systematic review. Neurology 2008; 71: 129-135.
46. Kalden JR. Emerging role of anti-tumor necrosis factor therapy in rheumatic diseases. Arthritis Res 2002; 4(Suppl 2): 34-40.
47. Silva LC, Ortigosa LC, Benard G. Anti-TNF agents in the treatment of immune-mediated inflammatory diseases: Mechanisms of action and pitfalls. Immunotherapy 2010; 2: 817-833.
48. Malik M, Sheikh AM, Wen G, Spivack W, Brown WT, Li X. Expression of inflammatory cytokines, Bcl2 and cathepsin D are altered in lymphoblasts of autistic subjects. Immunobiology 2011; 216: 80-85.
49. Chez M, Guido-Estrada M. Immune therapy in autism: Historical experience and future directions with immunomodulatory therapy. Neurotherapeutics 2010; 7: 299-301.
50. Davis SA, Johnson RR, Pendleton JW. Demyelinating disease associated with use of etanercept in patients with seronegative spondyloarthropathies. J Rheumatol 2008; 35: 1469-1470.
51. Simpson Jr S, Blizzard L, Otahal P, Van der Mei I, Taylor B. Latitude is significantly associated with the prevalence of multiple sclerosis: A meta-analysis. J Neurol Neurosurg Psychiatry 2011; 82: 1132-1141.