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Amniotic fluid inflammatory cytokines: potential markers of immunologic dysfunction in autism spectrum disorders.

https://arctichealth.org/en/permalink/ahliterature128706
Source
World J Biol Psychiatry. 2013 Sep;14(7):528-38
Publication Type
Article
Date
Sep-2013
Author
Morsi W Abdallah
Nanna Larsen
Jakob Grove
Bent Nørgaard-Pedersen
Poul Thorsen
Erik L Mortensen
David M Hougaard
Author Affiliation
Department of Epidemiology, Aarhus University Faculty of Health Sciences , Aarhus , Denmark.
Source
World J Biol Psychiatry. 2013 Sep;14(7):528-38
Date
Sep-2013
Language
English
Publication Type
Article
Keywords
Adult
Age of Onset
Amniotic Fluid - immunology - physiology
Biological Markers - metabolism
Case-Control Studies
Child Development Disorders, Pervasive - epidemiology - genetics - immunology
Cohort Studies
Compulsive Personality Disorder - epidemiology - immunology
Cytokines - adverse effects - physiology
Denmark
Female
Humans
Inflammation - immunology - metabolism - pathology
Inflammation Mediators - adverse effects - physiology
Pregnancy
Registries - statistics & numerical data
Abstract
The aim of the study was to analyze cytokine profiles in amniotic fluid (AF) samples of children developing autism spectrum disorders (ASD) and controls, adjusting for maternal autoimmune disorders and maternal infections during pregnancy.
AF samples of 331 ASD cases and 698 controls were analyzed for inflammatory cytokines using Luminex xMAP technology utilizing a historic birth cohort. Clinical data were retrieved from nationwide registers, and case-control differences in AF cytokine levels were assessed using chi-square tests, logistic and tobit regression models.
Overall, individuals with ASD had significantly elevated AF levels of TNF-a and TNF-ß compared to controls. Analyzing individuals diagnosed only with ICD-10 codes yielded significantly elevated levels of IL-4, IL-10, TNF-a and TNF-ß in ASD patients. Restricting analysis to infantile autism cases showed significantly elevated levels of IL-4, TNF-a and TNF-ß compared to controls with no psychiatric comorbidities. Elevated levels of IL-6 and IL-5 were found in individuals with other childhood psychiatric disorders (OCPD) when compared to controls with no psychiatric comorbidities.
AF samples of individuals with ASD or OCPD showed differential cytokine profiles compared to frequency-matched controls. Further studies to examine the specificity of the reported cytokine profiles in ASD and OCPD are required.
PubMed ID
22175527 View in PubMed
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Amniotic fluid MMP-9 and neurotrophins in autism spectrum disorders: an exploratory study.

https://arctichealth.org/en/permalink/ahliterature120408
Source
Autism Res. 2012 Dec;5(6):428-33
Publication Type
Article
Date
Dec-2012
Author
Morsi W Abdallah
Brad D Pearce
Nanna Larsen
Kirstin Greaves-Lord
Bent Nørgaard-Pedersen
David M Hougaard
Erik L Mortensen
Jakob Grove
Author Affiliation
Section for Epidemiology, Health, Aarhus University, Aarhus C, Denmark. morsi.abdallah@med.uni-rostock.de
Source
Autism Res. 2012 Dec;5(6):428-33
Date
Dec-2012
Language
English
Publication Type
Article
Keywords
Adult
Amniotic Fluid - metabolism
Brain-Derived Neurotrophic Factor - metabolism
Case-Control Studies
Child Development Disorders, Pervasive - metabolism
Cohort Studies
Denmark
Female
Humans
Infant, Newborn
Male
Matrix Metalloproteinase 9 - metabolism
Nerve Growth Factors - metabolism
Neuronal Plasticity
Odds Ratio
Pregnancy
Transforming Growth Factor beta - metabolism
Abstract
Evidence suggests that some developmental disorders, such as autism spectrum disorders (ASDs), are caused by errors in brain plasticity. Given the important role of matrix metalloproteinases (MMPs) and neurotrophins (NTs) in neuroplasticity, amniotic fluid samples for 331 ASD cases and 698 frequency-matched controls were analyzed for levels of MMP-9, brain-derived neurotrophic factor, NT-4 and transforming growth factor-ß utilizing a Danish historic birth cohort and Danish nationwide health registers. Laboratory measurements were performed using an in-house multiplex sandwich immunoassay Luminex xMAP method, and measurements were analyzed using tobit and logistic regression. Results showed elevated levels of MMP-9 in ASD cases compared with controls (crude and adjusted tobit regression P-values: 0.01 and 0.06). Our results highlight the importance of exploring the biologic impact of MMP-9 and potential therapeutic roles of its inhibitors in ASD and may indicate that neuroplastic impairments in ASD may present during pregnancy.
PubMed ID
23008271 View in PubMed
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Amniotic fluid phthalate levels and male fetal gonad function.

https://arctichealth.org/en/permalink/ahliterature264835
Source
Epidemiology. 2015 Jan;26(1):91-9
Publication Type
Article
Date
Jan-2015
Author
Morten Søndergaard Jensen
Ravinder Anand-Ivell
Bent Nørgaard-Pedersen
Bo A G Jönsson
Jens Peter Bonde
David M Hougaard
Arieh Cohen
Christian H Lindh
Richard Ivell
Gunnar Toft
Source
Epidemiology. 2015 Jan;26(1):91-9
Date
Jan-2015
Language
English
Publication Type
Article
Keywords
Adult
Amniotic Fluid - chemistry
Case-Control Studies
Cryptorchidism - epidemiology
Denmark - epidemiology
Diethylhexyl Phthalate - analysis
Environmental Exposure - statistics & numerical data
Female
Gonadal Steroid Hormones - analysis
Humans
Hydrocortisone - analysis
Hypospadias - epidemiology
Immunoassay
Infant, Newborn
Insulin - analysis
Leydig Cells
Linear Models
Logistic Models
Male
Mass Spectrometry
Phthalic Acids - analysis
Pregnancy
Proteins - analysis
Abstract
Prenatal exposure to phthalates may pose a threat to human male reproduction. However, additional knowledge about the in vivo effect in humans is needed, and reported associations with genital abnormalities are inconclusive. We aimed to study prenatal di(2-ethylhexyl) phthalate (DEHP) and diisononyl phthalate (DiNP) exposure in relation to cryptorchidism, hypospadias, and human fetal Leydig cell function.
We studied 270 cryptorchidism cases, 75 hypospadias cases, and 300 controls. Second-trimester amniotic fluid samples were available from a Danish pregnancy-screening biobank (n = 25,105) covering 1980-1996. We assayed metabolites of DEHP and DiNP (n = 645) and steroid hormones (n = 545) by mass spectrometry. We assayed insulin-like factor 3 by immunoassay (n = 475) and analyzed data using linear or logistic regression.
Mono(2-ethyl-5-carboxypentyl) phthalate (5cx-MEPP, DEHP metabolite) was not consistently associated with cryptorchidism or hypospadias. However, we observed an 18% higher (95% confidence interval [CI] = 5%-33%) testosterone level, and a 41% lower (-56% to -21%) insulin-like factor 3 level in the highest 5cx-MEPP tertile compared with the lowest. Mono(4-methyl-7-carboxyheptyl) phthalate (7cx-MMeHP, DiNP metabolite) showed elevated odds ratio point estimates for having cryptorchidism (odds ratio = 1.28 [95% CI = 0.80 to 2.01]) and hypospadias (1.69 [0.78 to 3.67]), but was not consistently associated with the steroid hormones or insulin-like factor 3.
Data on the DEHP metabolite indicate possible interference with human male fetal gonadal function. Considering the DiNP metabolite, we cannot exclude (nor statistically confirm) an association with hypospadias and, less strongly, with cryptorchidism.
PubMed ID
25384265 View in PubMed
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Autism spectrum disorders and maternal serum a-fetoprotein levels during pregnancy.

https://arctichealth.org/en/permalink/ahliterature128980
Source
Can J Psychiatry. 2011 Dec;56(12):727-34
Publication Type
Article
Date
Dec-2011
Author
Morsi W Abdallah
Jakob Grove
David M Hougaard
Bent Nørgaard-Pedersen
Fuad Ibrahimov
Erik L Mortensen
Author Affiliation
Department of Epidemiology, Aarhus University School of Public Health, Denmark. mab@soci.au.dk
Source
Can J Psychiatry. 2011 Dec;56(12):727-34
Date
Dec-2011
Language
English
Publication Type
Article
Keywords
Adult
Biological Markers - blood
Case-Control Studies
Child Development Disorders, Pervasive - blood - diagnosis - epidemiology
Cohort Studies
Denmark - epidemiology
Female
Humans
Infant, Newborn
Male
Mass Screening
Odds Ratio
Pregnancy
Pregnancy Complications - blood - diagnosis - epidemiology
Prenatal Diagnosis - methods
Registries
alpha-Fetoproteins - diagnostic use - metabolism
Abstract
Numerous studies have been trying to disentangle the complex pathophysiology of autism spectrum disorders (ASD). In our study, we explored the potential role of maternal serum (MS) alpha-fetoprotein (AFP) in the prediction and the pathophysiology of ASD.
A total of 112 patients with ASD and 243 control subjects were included in a case-control study, using a historic birth cohort maintained at Statens Serum Institute. Measurements of MS-AFP were obtained from a multicentre screening program, whereas clinical data were obtained from nationwide registers. Association between MS-AFP and ASD status was analyzed using logistic regression models and nonparametric tests.
Crude, but not adjusted, estimates showed that MS-AFP levels were slightly, but significantly, higher in mothers of children with ASD, compared with their control subject counterparts. People with ASD had an odds ratio of 2.33, with 95% confidence intervals of 1.00 to 5.39, to have MS-AFP above 2.5 multiple of median. Excluding subjects with congenital malformation comorbidities did not alter the direction of our estimates (OR 2.60; 95% CI 1.04 to 6.51, P = 0.04).
Biologic plausibility of its role in the pathophysiology of ASD makes AFP a good candidate for further larger-scale studies to confirm such an association and to determine whether this pattern is unique to ASD or related to other psychiatric disorders as well.
PubMed ID
22152641 View in PubMed
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Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

https://arctichealth.org/en/permalink/ahliterature122623
Source
Mol Genet Metab. 2012 Nov;107(3):281-93
Publication Type
Article
Date
Nov-2012
Author
Allan Meldgaard Lund
David Michael Hougaard
Henrik Simonsen
Brage Storstein Andresen
Mette Christensen
Morten Dunø
Kristin Skogstrand
Rikke K J Olsen
Ulrich Glümer Jensen
Arieh Cohen
Nanna Larsen
Peter Saugmann-Jensen
Niels Gregersen
Niels Jacob Brandt
Ernst Christensen
Flemming Skovby
Bent Nørgaard-Pedersen
Author Affiliation
Center for Inherited Metabolic Disorders, Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark. alund@rh.regionh.dk
Source
Mol Genet Metab. 2012 Nov;107(3):281-93
Date
Nov-2012
Language
English
Publication Type
Article
Keywords
Biotinidase - metabolism
Child
Denmark - epidemiology
False Positive Reactions
Female
Greenland - epidemiology
Humans
Infant, Newborn
Longitudinal Studies
Male
Metabolism, Inborn Errors - diagnosis - epidemiology - metabolism
Neonatal Screening - organization & administration
Pilot Projects
Sensitivity and specificity
Tandem Mass Spectrometry
Abstract
Expanded newborn screening for selected inborn errors of metabolism (IEM) in Denmark, the Faroe Islands and Greenland was introduced in 2002. We now present clinical, biochemical, and statistical results of expanded screening (excluding PKU) of 504,049 newborns during nine years as well as diagnoses and clinical findings in 82,930 unscreened newborns born in the same period. The frequencies of diagnoses made within the panel of disorders screened for are compared with the frequencies of the disorders in the decade preceding expanded newborn screening. The expanded screening was performed as a pilot study during the first seven years, and the experience obtained during these years was used in the development of the routine neonatal screening program introduced in 2009. Methods for screening included tandem mass spectrometry and an assay for determination of biotinidase activity. A total of 310 samples from 504,049 newborns gave positive screening results. Of the 310 results, 114 were true positive, including results from 12 newborns in which the disease in question was subsequently diagnosed in their mothers. Thus, the overall frequency of an IEM in the screening panel was 1:4942 (mothers excluded) or 1:4421 (mothers included). The false positive rate was 0.038% and positive predictive value 37%. Overall specificity was 99.99%. All patients with true positive results were followed in The Center for Inherited Metabolic Disorders in Copenhagen, and the mean follow-up period was 45 months (range 2109 months). There were no deaths among the 102 children, and 94% had no clinically significant sequelae at last follow-up. Our study confirms the higher frequency of selected IEM after implementation of expanded newborn screening and suggests an improved outcome for several disorders. We argue that newborn screening for these disorders should be standard of care, though unresolved issues remain, e.g. about newborns with a potential for remaining asymptomatic throughout life. Well organized logistics of the screening program from screening laboratory to centralized, clinical management is important.
PubMed ID
22795865 View in PubMed
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Congenital toxoplasmosis-a report on the Danish neonatal screening programme 1999-2007.

https://arctichealth.org/en/permalink/ahliterature96524
Source
J Inherit Metab Dis. 2010 Jun 29;
Publication Type
Article
Date
Jun-29-2010
Author
Dennis Röser
Henrik Vedel Nielsen
Eskild Petersen
Peter Saugmann-Jensen
Peter Bent Nørgaard-Pedersen
Author Affiliation
Department of Microbiological Surveillance and Research, Statens Serum Institut, Copenhagen, Denmark.
Source
J Inherit Metab Dis. 2010 Jun 29;
Date
Jun-29-2010
Language
English
Publication Type
Article
Abstract
OBJECTIVES: This paper reports on the national neonatal screening programme for congenital toxoplasmosis (CT) in Denmark conducted from 1999 to 2007, including background, basis for initiation of screening, methods, results, and finally reasons for the discontinuation of the screening. METHODS: A nationwide screening was conducted at Statens Serum Institut, including >98% newborns, and using filter paper eluates (Guthrie card, PKU card) obtained from newborns 5-10 days old. These were analysed for Toxoplasma gondii-specific antibodies (IgM), and if positive, then IgM (ISAGA). Confirmatory serology was performed on children and their mothers (IgM, IgG, IgA, dye test) where infection was suspected, and children with suspected or confirmed CT initiated a 3-month treatment regimen with pyrimethamine, sulfadiazine and folinic acid supplements. Selective cohorts were followed with regard to developmental and clinical outcome. RESULTS: A total of 100 children were diagnosed with CT in the screening period, and only 2 cases were detected outside of the screening programme. CT prevalence was 1.6 per 10,000 live-born infants. Follow-up studies showed new retinochoroidal lesions in affected children despite treatment. CONCLUSION: Screening was terminated August 2007, after it became apparent that no benefit of treatment could be shown. CT was evaluated using a Danish adaptation of the Uniform Screening Panel (ACMG), showing CT as an unlikely candidate for screening today. Whereas results might be comparable with other low-endemic countries with similar strains of T. gondii, neonatal screening and treatment might offer different results in regions with either high prevalence or different strains of T. gondii.
PubMed ID
20585987 View in PubMed
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GJB2 and GJB6 mutations in 165 Danish patients showing non-syndromic hearing impairment.

https://arctichealth.org/en/permalink/ahliterature30156
Source
Genet Test. 2004;8(2):181-4
Publication Type
Article
Date
2004
Author
Karen Grønskov
Lars Allan Larsen
Nanna Dahl Rendtorff
Agnete Parving
Bent Nørgaard-Pedersen
Karen Brøndum-Nielsen
Author Affiliation
Department of Medical Genetics, John F. Kennedy Institute, DK-2600 Glostrup, Denmark. kag@kennedy.dk
Source
Genet Test. 2004;8(2):181-4
Date
2004
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Aged
Base Sequence
Child
Child, Preschool
Connexins - genetics
Denmark
Female
Genetic Screening
Genotype
Hearing Loss - genetics
Heterozygote
Humans
Male
Middle Aged
Mutation
Phenotype
Sequence Deletion
Abstract
Thirty-two genes causing non-syndromic hearing impairment (NSHI) have been cloned, including GJB2 and GJB6 encoding the gap junction subunits connexin 26 and connexin 30, respectively. One mutation in GJB2, 35delG, accounts for a large percentage of GJB2 hearing impairment in Southern Europe whereas a considerably lower frequency has been reported from Northern European populations. Recently, a 342-kb deletion implicating GJB6 was found in 22 out of 44 NSHI patients of Spanish origin with only one mutated allele of GJB2. We report the first study of GJB2 and GJB6 mutations in Danish patients with NSHI. We tested 165 individuals and found GJB2 mutations in 16 individuals. The deletion implicating GJB6 was found in two individuals out of 9 heterozygous for GJB2 mutation. Furthermore, we screened 509 unselected samples from the Danish newborn population for the 35delG mutation in GJB2. We found 9 samples heterozygous for 35delG and 11 samples heterozygous for mutations leading to amino acid variants in GJB2 protein. In conclusion, our data are in accordance with results from other Northern European populations. Furthermore, our data on the GJB6 deletion suggest that routine screening for this deletion could help to explain hearing impairment in some Northern European NSHI patients heterozygous for a mutation in GJB2.
PubMed ID
15345117 View in PubMed
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Infections during pregnancy and after birth, and the risk of autism spectrum disorders: a register-based study utilizing a Danish historic birth cohort.

https://arctichealth.org/en/permalink/ahliterature271903
Source
Turk Psikiyatri Derg. 2012;23(4):229-35
Publication Type
Article
Date
2012
Author
Morsi W Abdallah
David M Hougaard
Bent Nørgaard-Pedersen
Jakob Grove
Eva C Bonefeld-Jørgensen
Erik L Mortensen
Source
Turk Psikiyatri Derg. 2012;23(4):229-35
Date
2012
Language
English
Publication Type
Article
Keywords
Adolescent
Adult
Autism Spectrum Disorder - epidemiology - etiology
Case-Control Studies
Child
Child, Preschool
Cohort Studies
Denmark - epidemiology
Female
Hospitalization
Humans
Infant
Infant, Newborn
Postnatal Care
Pregnancy
Pregnancy Complications, Infectious - epidemiology
Prenatal Care
Registries
Regression Analysis
Retrospective Studies
Abstract
Mounting evidence suggests that immune dysfunction may play a crucial role in the pathophysiology of autism spectrum disorders (ASD). In addition, several studies have reported that congenital and postnatal infections may contribute to the neurobiological basis of ASD. This study aimed to investigate the relationship between infections during pregnancy and after birth, and ASD.
A case-control study design was adopted. Both cases and controls were retrieved from a historic birth cohort (HBC) maintained at Statens Serum Institute in Copenhagen/Denmark and were followed up retrospectively during pregnancy and after birth over four pre-defined periods. Study subjects were followed-up utilizing Danish nation-wide health registers for outpatient and hospital admissions due to infections. Associations between infections and ASD were analyzed using Mantel-Haenszel estimate of the odds ratio (OR) and logistic regression models.
In total, 414 ASD cases and 820 controls were followed-up during pregnancy and a mean 16.3 years after birth. Crude, but not adjusted estimates showed that ASD cases had an increased risk of hospital admission due to infection at the end of the first year of life (OR = 1.48 [range: 1.07-2.05], P = 0.02) and at the end of the follow-up period (OR = 1.30 [range: 1.02-1.64], P = 0.03).
The present findings indicate that infections have a potential role in the pathophysiology of ASD; however, further studies are necessary to determine if infections etiologically contribute to ASD or if they act as an epiphenomenon due to distorted immunity in children with ASD.
PubMed ID
23225123 View in PubMed
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Source
Mol Genet Metab. 2012 Jun;106(2):175-88
Publication Type
Article
Date
Jun-2012
Author
Brage Storstein Andresen
Allan Meldgaard Lund
David Michael Hougaard
Ernst Christensen
Birthe Gahrn
Mette Christensen
Peter Bross
Anne Vested
Henrik Simonsen
Kristin Skogstrand
Simon Olpin
Niels Jacob Brandt
Flemming Skovby
Bent Nørgaard-Pedersen
Niels Gregersen
Author Affiliation
Research Unit for Molecular Medicine, Aarhus University Hospital and Faculty of Health Science, Skejby Sygehus, Aarhus, Denmark. bragea@bmb.sdu.dk
Source
Mol Genet Metab. 2012 Jun;106(2):175-88
Date
Jun-2012
Language
English
Publication Type
Article
Keywords
Acyl-CoA Dehydrogenase - deficiency - genetics
Alleles
Base Sequence
Carnitine - analogs & derivatives - metabolism
Denmark - epidemiology
Family
Female
Genetic Association Studies
Genotype
Humans
Incidence
Infant
Infant, Newborn
Lipid Metabolism, Inborn Errors - diagnosis - epidemiology - genetics
Male
Mutation
Neonatal Screening
Phenotype
Tandem Mass Spectrometry
Abstract
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the most common defect of fatty acid oxidation. Many countries have introduced newborn screening for MCADD, because characteristic acylcarnitines can easily be identified in filter paper blood spot samples by tandem mass spectrometry (MS/MS), because MCADD is a frequent disease, and because of the success of early treatment initiated before clinical symptoms have emerged. In Denmark we have screened 519,350 newborns for MCADD by MS/MS and identified 58 affected babies. The diagnosis of MCADD was confirmed in all 58 newborns by mutation analysis. This gives an incidence of MCADD detected by newborn screening in Denmark of 1/8954. In sharp contrast to this we found that the incidence of clinically presenting MCADD in Denmark in the 10 year period preceding introduction of MS/MS-based screening was only 1 in 39,691. This means that four times more newborns with MCADD are detected by screening than what is expected based on the number of children presenting clinically in an unscreened population. The mutation spectrum in the newborns detected by screening is different from that observed in clinically presenting patients with a much lower proportion of newborns being homozygous for the prevalent disease-causing c.985A>G mutation. A significant number of the newborns have genotypes with mutations that have not been observed in patients detected clinically. Some of these mutations, like c.199T>C and c.127G>A, are always associated with a milder biochemical phenotype and may cause a milder form of MCADD with a relatively low risk of disease manifestation, thereby explaining part of the discrepancy between the frequency of clinically manifested MCADD and the frequency of MCADD determined by screening. In addition, our data suggest that some of this discrepancy can be explained by a reduced penetrance of the c.985A>G mutation, with perhaps only 50% of c.985A>G homozygotes presenting with disease manifestations. Interestingly, we also report that the observed number of newborns identified by screening who are homozygous for the c.985A>G mutation is twice that predicted from the estimated carrier frequency. We therefore redetermined the carrier frequency in a new sample of 1946 blood spots using a new assay, but this only confirmed that the c.985A>G carrier frequency in Denmark is approximately 1/105. We conclude that MCADD is much more frequent than expected, has a reduced penetrance and that rapid genotyping using the initial blood spot sample is important for correct diagnosis and counseling.
PubMed ID
22542437 View in PubMed
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Modelling the contribution of family history and variation in single nucleotide polymorphisms to risk of schizophrenia: a Danish national birth cohort-based study.

https://arctichealth.org/en/permalink/ahliterature129430
Source
Schizophr Res. 2012 Feb;134(2-3):246-52
Publication Type
Article
Date
Feb-2012
Author
Esben Agerbo
Preben B Mortensen
Carsten Wiuf
Michael S Pedersen
John McGrath
Mads V Hollegaard
Bent Nørgaard-Pedersen
David M Hougaard
Ole Mors
Carsten B Pedersen
Author Affiliation
National Centre for Register-Based Research, Aarhus University, Denmark. ea@ncrr.dk
Source
Schizophr Res. 2012 Feb;134(2-3):246-52
Date
Feb-2012
Language
English
Publication Type
Article
Keywords
Cohort Studies
Community Health Planning
Denmark - epidemiology
Family Health
Female
Genetic Predisposition to Disease
Genetics, Population
Genome-Wide Association Study
Humans
Male
Polymorphism, Single Nucleotide - genetics
Psychotic Disorders - diagnosis - epidemiology - genetics
Risk
Schizophrenia - diagnosis - epidemiology - genetics
Abstract
Epidemiological studies indicate that having any family member with schizophrenia increases the risk of schizophrenia in the probands. However, genome-wide association studies (GWAS) have accounted for little of this variation. The aim of this study was to use a population-based sample to explore the influence of single-nucleotide polymorphisms (SNPs) on the excess schizophrenia risk in offspring of parents with a psychotic, bipolar affective or other psychiatric disorder.
A nested case-control study with 739 cases with schizophrenia and 800 controls. Their parents and siblings. Information from national health registers and GWAS data from the national neonatal biobank.
Offspring schizophrenia risk was elevated in those whose mother, father or siblings had been diagnosed with schizophrenia or related psychosis, bipolar affective disorder or any other psychiatric disorder. The rate ratio was 9.31 (3.85; 22.44) in offspring whose 1st degree relative was diagnosed with schizophrenia. This rate ranged between 8.31 and 11.34 when adjusted for each SNP individually and shrank to 8.23 (3.13; 21.64) when adjusted for 25% of the SNP-variation in candidate genes. The percentage of the excess risk associated with a family history of schizophrenia mediated through genome-wide SNP-variation ranged between -6.1%(-17.0%;2.6%) and 4.1%(-3.9%;15.2%). Analogous results were seen for each parent and for histories of bipolar affective and other psychiatric diagnoses.
The excess risk of schizophrenia in offspring of parents who have a psychotic, bipolar affective or other psychiatric disorder is not currently explained by the SNP variation included in this study in accordance with findings from published genetic studies.
PubMed ID
22108675 View in PubMed
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21 records – page 1 of 3.