Schizophrenia spectrum disorders in a Danish 22q11.2 deletion syndrome cohort compared to the total Danish Population - A nationwide register study

Schizophrenia Bulletin

Volumn 42, Issue 3, 2016, Pages 824-831

  Vangkilde, Anders ^a,b   Olsen, Line ^a,b,e   Hoeffding, Louise K ^a,b   Pedersen, Carsten B ^b,c   Mortensen, Preben B ^b,c   Werge, Thomas ^a,b,d   Trabjerg, Betina ^b,c  

^a Mental Health Centre Sct Hans   (Denmark)

^b H LUNDBECK A S   (Denmark)

^c AARHUS UNIVERSITY   (Denmark)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

^e Mental Health Centre St Hans   (Denmark)

Author keywords

22q11 deletion syndrome; health registry; incidence rate; schizophrenia; schizophrenia spectrum disorders

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME DELETION 22Q11; CHROMOSOME DELETION 22Q11.2; COHORT ANALYSIS; DANISH CITIZEN; FEMALE; GENETIC SCREENING; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; MENTAL HEALTH; PARENTAL AGE; PRIORITY JOURNAL; SCHIZOPHRENIA; SCHOOL CHILD; YOUNG ADULT; COMORBIDITY; DENMARK; DIGEORGE SYNDROME; MIDDLE AGED; REGISTER;

ADOLESCENT; ADULT; CHILD; COHORT STUDIES; COMORBIDITY; DENMARK; DIGEORGE SYNDROME; FEMALE; HUMANS; MALE; MIDDLE AGED; REGISTRIES; SCHIZOPHRENIA; YOUNG ADULT;

EID: 84966454902     PISSN: 05867614     EISSN: 17451701     Source Type: Journal    
DOI: 10.1093/schbul/sbv195     Document Type: Article

References (55)

1. Goodship J, Cross I, LiLing J, Wren C. A population study of chromosome 22q11 deletions in infancy. Arch Dis Child. 1998; 79: 348-351
2. Oskarsdóttir S, Vujic M, Fasth A. Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden. Arch Dis Child. 2004; 89: 148-151
3. Michaelovsky E, Frisch A, Carmel M, et al. Genotypephenotype correlation in 22q11.2 deletion syndrome. BMC Med Genet. 2012; 13: 122. doi: 10.1186/1471-2350-13-122
4. Shaikh TH, O Connor RJ, Pierpont ME, et al. Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms. Genome Res. 2007; 17: 482-491. doi: 10.1101/gr.5986507
5. Carlson C, Sirotkin H, Pandita R, et al. Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet. 1997; 61: 620-629. doi: 10.1086/515508
6. Urban AE, Korbel JO, Selzer R, et al. High-resolution mapping of DNA copy alterations in human chromosome 22 using high-density tiling oligonucleotide arrays. Proc Natl Acad Sci U S A. 2006; 103: 4534-4539. doi: 10.1073/pnas.0511340103
7. Molck MC, Vieira TP, Sgardioli IC, et al. Atypical copy number abnormalities in 22q11.2 region: report of three cases. Eur J Med Genet. 2013; 56: 515-520. doi: 10.1016/j. ejmg.2013.07.002
8. Kanduri C, Kantojärvi K, Salo PM, et al. The landscape of copy number variations in Finnish families with autism spectrum disorders [published online ahead of print June 06, 2015]. Autism Res Off J Int Soc Autism Res. doi: 10.1002/aur.1502
9. Saitta SC, Harris SE, Gaeth AP, et al. Aberrant interchromosomal exchanges are the predominant cause of the 22q11.2 deletion. Hum Mol Genet. 2004; 13: 417-428. doi: 10.1093/hmg/ddh041
10. Baumer A, Dutly F, Balmer D, et al. High level of unequal meiotic crossovers at the origin of the 22q11. 2 and 7q11.23 deletions. Hum Mol Genet. 1998; 7: 887-894
11. Torres-Juan L, Rosell J, Sánchez-de-la-Torre M, Fibla J, Heine-Suñer D. Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. BMC Med Genet. 2007; 8: 14. doi: 10.1186/1471-2350-8-14
12. Delio M, Guo T, McDonald-McGinn DM, et al. Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet. 2013; 92: 439-447. doi: 10.1016/j.ajhg.2013.01.018
13. Kobrynski LJ, Sullivan KE. Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes. Lancet Lond Engl. 2007; 370: 1443-1452. doi: 10.1016/S0140-6736(07)61601-8
14. Ryan AK, Goodship JA, Wilson DI, et al. Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study. J Med Genet. 1997; 34: 798-804
15. Bassett AS, Chow EWC, Husted J, et al. Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A. 2005; 138: 307-313. doi: 10.1002/ajmg.a.30984
16. Niklasson L, Rasmussen P, Oskarsdóttir S, Gillberg C. Autism, ADHD, mental retardation and behavior problems in 100 individuals with 22q11 deletion syndrome. Res Dev Disabil. 2009; 30: 763-773. doi: 10.1016/j.ridd.2008.10.007
17. Shprintzen RJ. Velo-cardio-facial syndrome: a distinctive behavioral phenotype. Ment Retard Dev Disabil Res Rev. 2000; 6: 142-147. doi: 10.1002/1098-2779(2000)6: 2 142:: AIDMRDD9 3.0.CO; 2-H
18. Swillen A, Devriendt K, Legius E, et al. The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescence. Genet Couns Geneva Switz. 1999; 10: 79-88
19. Monks S, Niarchou M, Davies AR, et al. Further evidence for high rates of schizophrenia in 22q11.2 deletion syndrome. Schizophr Res. 2014; 153: 231-236. doi: 10.1016/j. schres.2014.01.020
20. Murphy KC, Jones LA, Owen MJ. High rates of schizophrenia in adults with velo-cardio-facial syndrome. Arch Gen Psychiatry. 1999; 56: 940-945
21. Schneider M, Debbané M, Bassett AS, et al. Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2014; 171: 627-639. doi: 10.1176/appi.ajp.2013.13070864
22. Shprintzen RJ, Goldberg R, Golding-Kushner KJ, Marion RW. Late-onset psychosis in the velo-cardio-facial syndrome. Am J Med Genet. 1992; 42: 141-142. doi: 10.1002/ajmg.1320420131
23. Rees E, Walters JTR, Chambert KD, et al. CNV analysis in a large schizophrenia sample implicates deletions at 16p12.1 and SLC1A1 and duplications at 1p36.33 and CGNL1. Hum Mol Genet. 2014; 23: 1669-1676. doi: 10.1093/hmg/ddt540
24. Kirov G. CNVs in neuropsychiatric disorders. Hum Mol Genet. 2015; 24: R45-R49. doi: 10.1093/hmg/ddv253
25. Kirov G, Rees E, Walters JTR, et al. The penetrance of copy number variations for schizophrenia and developmental delay. Biol Psychiatry. 2014; 75: 378-385. doi: 10.1016/j. biopsych.2013.07.022
26. Malhotra D, Sebat J. CNVs: harbingers of a rare variant revolution in psychiatric genetics. Cell. 2012; 148: 1223-1241. doi: 10.1016/j.cell.2012.02.039
27. Grozeva D, Conrad DF, Barnes CP, et al. Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia. Schizophr Res. 2012; 135: 1-7. doi: 10.1016/j.schres.2011.11.004
28. Szatkiewicz JP, O Dushlaine C, Chen G, et al. Copy number variation in schizophrenia in Sweden. Mol Psychiatry. 2014; 19: 762-773. doi: 10.1038/mp.2014.40
29. International Schizophrenia Consortium. Rare chromosomal deletions and duplications increase risk of schizophrenia. Nature. 2008; 455: 237-241. doi: 10.1038/nature07239
30. Dean K, Stevens H, Mortensen PB, Murray RM, Walsh E, Pedersen CB. Full spectrum of psychiatric outcomes among offspring with parental history of mental disorder. Arch Gen Psychiatry. 2010; 67: 822-829. doi: 10.1001/archgenpsychiatry.2010.86
31. Gottesman II, Laursen TM, Bertelsen A, Mortensen PB. Severe mental disorders in offspring with 2 psychiatrically ill parents. Arch Gen Psychiatry. 2010; 67: 252-257. doi: 10.1001/archgenpsychiatry.2010.1
32. Pedersen CB. No evidence of time trends in the urbanrural differences in schizophrenia risk among five million people born in Denmark from 1910 to 1986. Psychol Med. 2006; 36: 211-219. doi: 10.1017/S003329170500663X
33. Pedersen CB, Mortensen PB. Evidence of a dose-response relationship between urbanicity during upbringing and schizophrenia risk. Arch Gen Psychiatry. 2001; 58: 1039-1046
34. El-Saadi O, Pedersen CB, McNeil TF, et al. Paternal and maternal age as risk factors for psychosis: findings from Denmark, Sweden and Australia. Schizophr Res. 2004; 67: 227-236. doi: 10.1016/S0920-9964(03)00100-2
35. McGrath JJ, Petersen L, Agerbo E, Mors O, Mortensen PB, Pedersen CB. A comprehensive assessment of parental age and psychiatric disorders. JAMA Psychiatry. 2014; 71: 301-309. doi: 10.1001/jamapsychiatry.2013.4081
36. Miller B, Messias E, Miettunen J, et al. Meta-Analysis of paternal age and schizophrenia risk in male versus female offspring. Schizophr Bull. 2011; 37: 1039-1047. doi: 10.1093/schbul/sbq011
37. Petersen L, Mortensen PB, Pedersen CB. Paternal age at birth of first child and risk of schizophrenia. Am J Psychiatry. 2011; 168: 82-88. doi: 10.1176/appi.ajp.2010.10020252
38. Cantor-Graae E, Pedersen CB. Full spectrum of psychiatric disorders related to foreign migration: a Danish populationbased cohort study. JAMA Psychiatry. 2013; 70: 427-435. doi: 10.1001/jamapsychiatry.2013.441
39. Weiser M, Werbeloff N, Vishna T, et al. Elaboration on immigration and risk for schizophrenia. Psychol Med. 2008; 38: 1113-1119. doi: 10.1017/S003329170700205X
40. Pedersen CB. The Danish Civil Registration System. Scand J Public Health. 2011; 39(7 suppl): 22-25. doi: 10.1177/1403494810387965
41. Pedersen CB, Gøtzsche H, Møller JO, Mortensen PB. The Danish Civil Registration System. A cohort of eight million persons. Dan Med Bull. 2006; 53: 441-449
42. Mors O, Perto GP, Mortensen PB. The Danish Psychiatric Central Research Register. Scand J Public Health. 2011; 39(7 suppl): 54-57. doi: 10.1177/1403494810395825
43. WHO. Classification of Diseases: Extended Danish-Latin Version of the World Health Organization International Classification of Diseases, 8th Revision, 1965. Copenhagen: Danish National Board of Health; 1971
44. WHO. WHO ICD-10: Mental and Behavioural Disorders, Classification and Diagnostic Criteria. Copenhagen: Munksgaard Danmark; 1994
45. Videbech P, Nielsen J. Electronic data processing in the Danish cytogenetic central register and EDP problems of registers in general. Clin Genet. 1979; 15: 137-146
46. Nguyen-Nielsen M, Svensson E, Vogel I, Ehrenstein V, Sunde L. Existing data sources for clinical epidemiology: Danish registries for studies of medical genetic diseases. Clin Epidemiol. 2013; 5: 249-262. doi: 10.2147/CLEP. S45228
47. Pedersen CB, Mors O, Bertelsen A, et al. A comprehensive nationwide study of the incidence rate and lifetime risk for treated mental disorders. JAMA Psychiatry. 2014; 71: 573-581. doi: 10.1001/jamapsychiatry.2014.16
48. Lange T, Keiding N. Skin cancer as a marker of sun exposure: a case of serious immortality bias. Int J Epidemiol. 2014; 43: 971. doi: 10.1093/ije/dyu100
49. Andersen P, Borgen O, Gill R, Keiding N. Statistical Models Based on Counting Processes. New York: Springer-Verlag; 1993
50. Laird N, Oliver D. Covariance analysis of censored survival data using log-linear analysis techniques. J Am Stat Assoc. 1981; 76: 231-240
51. McDonald-McGinn DM, Zackai EH. Genetic counseling for the 22q11.2 deletion. Dev Disabil Res Rev. 2008; 14: 69-74. doi: 10.1002/ddrr.10
52. Bassett AS, Marshall CR, Lionel AC, Chow EWC, Scherer SW. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. Hum Mol Genet. 2008; 17: 4045-4053. doi: 10.1093/hmg/ddn307
53. Kirov G, Grozeva D, Norton N, et al. Support for the involvement of large copy number variants in the pathogenesis of schizophrenia. Hum Mol Genet. 2009; 18: 1497-1503. doi: 10.1093/hmg/ddp043
54. Vassos E, Collier DA, Holden S, et al. Penetrance for copy number variants associated with schizophrenia. Hum Mol Genet. 2010; 19: 3477-3481. doi: 10.1093/hmg/ddq259
55. Uggerby P, østergaard SD, Røge R, Correll CU, Nielsen J. The validity of the schizophrenia diagnosis in the Danish Psychiatric Central Research Register is good. Dan Med J. 2013; 60: A4578