Student or educator? Sign up with your school email and get 6 months of Pro free.
CoChat
Sign Up
Cited by 227

The DOI matches its Crossref record; 62 of the 62 references it cites were found in a registry or an index.

Genetic Epidemiology and Insights into Interactive Genetic and Environmental Effects in Autism Spectrum Disorders

Open access
Kim, Young Shin, Leventhal, Bennett L.·2015·Biological Psychiatry
DOI 10.1016/j.biopsych.2014.11.001
Open this paper in CoChat — free account

Abstract

Understanding the pathogenesis of Neurodevelopmental Disorders (NDDs) has proven to be challenging. Using Autism Spectrum Disorder (ASD) as a paradigmatic NDD, this paper reviews the existing literature on the etiologic substrates of ASD and explores how genetic epidemiology approaches including gene-environment interactions (GxE) can play roles in identifying factors associated with ASD etiology. New genetic and bioinformatics strategies have yielded important clues to ASD genetic substrates. Next steps for understanding ASD pathogenesis require significant effort to focus on how genes and environment interact with one another in typical development and its perturbations. Along with larger sample sizes, future study designs should include sample ascertainment that is epidemiologic and population-based to capture the entire ASD spectrum with both categorical and dimensional phenotypic characterization, environmental measurement with accuracy, validity and biomarkers, statistical methods to address population stratification, multiple comparisons and GxE of rare variants, animal models to test hypotheses and, new methods to broaden the capacity to search for GxE, including genome-wide and environment-wide association studies, precise estimation of heritability using dense genetic markers and consideration of GxE both as the disease cause and a disease course modifier. While examination of GxE appears to be a daunting task, tremendous recent progress in gene discovery opens new horizons for advancing our understanding the role of GxE in the pathogenesis of, and ultimately identifying the causes, treatments and even prevention for ASD and other NDDs.

Overview

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Integrity signals

Registry

Crossref · 10.1016/j.biopsych.2014.11.001

Cites

62 of 62 references verified0 citation errors · 0 not checkable

Statistics

Verification

Claims the paper makes

The claims and statistics of this paper haven’t been checked yet.

Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.

A few free checks a day · papers already verified open instantly · results are public

Self-check

Percentages, sums and reported differences re-computed from the paper’s own numbers.

The self-check needs the paper’s full text.

Citations

Cites

Show all 62 references

Research works printed but not linked: 83

  1. Willsey, 2013, Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism, Cell, 155, 997, 10.1016/j.cell.2013.10.020 · DOI · Paper page
  2. Kim, 2014, Recent challenges to the psychiatric diagnostic nosology: A focus on the genetics and genomics of neurodevelopmental disorders, Int J Epidemiol, 43, 465, 10.1093/ije/dyu037 · DOI
  3. Malhotra, 2012, CNVs: Harbingers of a rare variant revolution in psychiatric genetics, Cell, 148, 1223, 10.1016/j.cell.2012.02.039 · DOI · Paper page
  4. Mefford, 2009, A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease, Genome Res, 19, 1579, 10.1101/gr.094987.109 · DOI · Paper page
  5. Sanders, 2011, Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism, Neuron, 70, 863, 10.1016/j.neuron.2011.05.002 · DOI · Paper page
  6. Ahn, 2014, High rate of disease-related copy number variations in childhood onset schizophrenia, Mol Psychiatry, 19, 568, 10.1038/mp.2013.59 · DOI
  7. Chaste, 2012, Autism risk factors: Genes, environment, and gene-environment interactions, Dialogues Clin Neurosci, 14, 281, 10.31887/DCNS.2012.14.3/pchaste · DOI · Paper page
  8. Knudsen, 2014, Maternal pre-pregnancy risk drinking and toddler behavior problems: The Norwegian Mother and Child Cohort Study, Eur Child Adolesc Psychiatry, 23, 901, 10.1007/s00787-014-0588-x · DOI
  9. Larkby, 2011, Prenatal alcohol exposure is associated with conduct disorder in adolescence: Findings from a birth cohort, J Am Acad Child Adolesc Psychiatry, 50, 262, 10.1016/j.jaac.2010.12.004 · DOI
  10. May, 2013, Maternal alcohol consumption producing fetal alcohol spectrum disorders (FASD): Quantity, frequency, and timing of drinking, Drug Alcohol Depend, 133, 502, 10.1016/j.drugalcdep.2013.07.013 · DOI · Paper page
  11. Thomas, 2000, Genetic epidemiology with a capital “E.”, Genet Epidemiol, 19, 289, 10.1002/1098-2272(200012)19:4<289::AID-GEPI2>3.0.CO;2-P · DOI
  12. Bohm, 2009, Brief report: On the concordance percentages for autistic spectrum disorder of twins, J Autism Dev Disord, 39, 806, 10.1007/s10803-008-0683-2 · DOI
  13. Nordenbaek, 2014, A Danish population-based twin study on autism spectrum disorders, Eur Child Adolesc Psychiatry, 23, 35, 10.1007/s00787-013-0419-5 · DOI
  14. Veenstra-VanderWeele, 2004, Molecular genetics of autism spectrum disorder, Mol Psychiatry, 9, 819, 10.1038/sj.mp.4001505 · DOI · Paper page
  15. Li, 2012, Genes associated with autism spectrum disorder, Brain Res Bull, 88, 543, 10.1016/j.brainresbull.2012.05.017 · DOI
  16. Veenstra-VanderWeele, 2004, Autism as a paragmatic complex genetic disorder, Annu Rev Genomics Hum Genet, 5, 379, 10.1146/annurev.genom.5.061903.180050 · DOI · Paper page
  17. Huang, 2008, Autism and serotonin transporter gene polymorphisms: A systematic review and meta-analysis, Am J Med Genet B Neuropsychiatr Genet, 147B, 903, 10.1002/ajmg.b.30720 · DOI
  18. Hirschhorn, 2005, Genome-wide association studies for common diseases and complex traits, Nat Rev Genet, 6, 95, 10.1038/nrg1521 · DOI · Paper page
  19. Wain, 2011, Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure, Nat Genet, 43, 1005, 10.1038/ng.922 · DOI · Paper page
  20. Rutter, 1999, Genetics and child psychiatry: I. Advances in quantitative and molecular genetics, J Child Psychol Psychiatry, 40, 3, 10.1111/1469-7610.00422 · DOI
  21. Moldin, 1997, The maddening hunt for madness genes, Nat Genet, 17, 127, 10.1038/ng1097-127 · DOI
  22. 2012, Simons Variation in Individuals Project (Simons VIP): A genetics-first approach to studying autism spectrum and related neurodevelopmental disorders, Neuron, 73, 1063, 10.1016/j.neuron.2012.02.014 · DOI · Paper page
  23. Shen, 2010, Clinical genetic testing for patients with autism spectrum disorders, Pediatrics, 125, e727, 10.1542/peds.2009-1684 · DOI · Paper page
  24. Guha, 2013, Implication of a rare deletion at distal 16p11.2 in schizophrenia, JAMA Psychiatry, 70, 253, 10.1001/2013.jamapsychiatry.71 · DOI
  25. Walters, 2013, Rare genomic structural variants in complex disease: Lessons from the replication of associations with obesity, PLoS One, 8, e58048, 10.1371/journal.pone.0058048 · DOI
  26. Grozeva, 2012, Independent estimation of the frequency of rare CNVs in the UK population confirms their role in schizophrenia, Schizophr Res, 135, 1, 10.1016/j.schres.2011.11.004 · DOI
  27. Allen, 2013, De novo mutations in epileptic encephalopathies, Nature, 501, 217, 10.1038/nature12439 · DOI · Paper page
  28. Robinson, 2014, Explaining additional genetic variation in complex traits, Trends Genet, 30, 124, 10.1016/j.tig.2014.02.003 · DOI
  29. Gillberg, 1984, Infantile autism and other childhood psychoses in a Swedish urban region. Epidemiological aspects, J Child Psychol Psychiatry, 25, 35, 10.1111/j.1469-7610.1984.tb01717.x · DOI · Paper page
  30. Kim, 2011, Prevalence of autism spectrum disorders in a total population sample, Am J Psychiatry, 168, 904, 10.1176/appi.ajp.2011.10101532 · DOI · Paper page
  31. LaSalle, 2013, Epigenomic strategies at the interface of genetic and environmental risk factors for autism, J Hum Genet, 58, 396, 10.1038/jhg.2013.49 · DOI · Paper page
  32. Goldberg, 2007, Epigenetics: A landscape takes shape, Cell, 128, 635, 10.1016/j.cell.2007.02.006 · DOI · Paper page
  33. Belmonte, 2006, Fragile X syndrome and autism at the intersection of genetic and neural networks, Nat Neurosci, 9, 1221, 10.1038/nn1765 · DOI · Paper page
  34. Percy, 2011, Rett syndrome: exploring the autism link, Arch Neurol, 68, 985, 10.1001/archneurol.2011.149 · DOI · Paper page
  35. Bonati, 2007, Evaluation of autism traits in Angelman syndrome: A resource to unfold autism genes, Neurogenetics, 8, 169, 10.1007/s10048-007-0086-0 · DOI
  36. Ladd-Acosta, 2014, Common DNA methylation alterations in multiple brain regions in autism, Mol Psychiatry, 19, 862, 10.1038/mp.2013.114 · DOI · Paper page
  37. Wong, 2014, Methylomic analysis of monozygotic twins discordant for autism spectrum disorder and related behavioural traits, Mol Psychiatry, 19, 495, 10.1038/mp.2013.41 · DOI · Paper page
  38. Shi, 2007, Orofacial cleft risk is increased with maternal smoking and specific detoxification-gene variants, Am J Hum Genet, 80, 76, 10.1086/510518 · DOI · Paper page
  39. Kohlmeier, 2005, Genetic variation of folate-mediated one-carbon transfer pathway predicts susceptibility to choline deficiency in humans, Proc Natl Acad Sci U S A, 102, 16025, 10.1073/pnas.0504285102 · DOI · Paper page
  40. Bescoby-Chambers, 2001, “Foetal valproate syndrome and autism: additional evidence of an association.”, Dev Med Child Neurol, 43, 847, 10.1017/S0012162201211542 · DOI
  41. Lee, 2008, Variation in season of birth in singleton and multiple births concordant for autism spectrum disorders, Paediatr Perinat Epidemiol, 22, 172, 10.1111/j.1365-3016.2007.00919.x · DOI · Paper page
  42. Williams, 2008, Perinatal and maternal risk factors for autism spectrum disorders in New South Wales, Australia, Child Care Health Dev, 34, 249, 10.1111/j.1365-2214.2007.00796.x · DOI · Paper page
  43. Froehlich-Santino, 2014, Prenatal and perinatal risk factors in a twin study of autism spectrum disorders, J Psychiatr Res, 54, 100, 10.1016/j.jpsychires.2014.03.019 · DOI
  44. Zerbo, 2013, Is maternal influenza or fever during pregnancy associated with autism or developmental delays? Results from the CHARGE (CHildhood Autism Risks from Genetics and Environment) study, J Autism Dev Disord, 43, 25, 10.1007/s10803-012-1540-x · DOI · Paper page
  45. Atladóttir, 2007, Time trends in reported diagnoses of childhood neuropsychiatric disorders: A Danish cohort study, Arch Pediatr Adolesc Med, 161, 193, 10.1001/archpedi.161.2.193 · DOI
  46. Patterson, 2012, Maternal infection and autism, Brain Behav Immun, 26, 393, 10.1016/j.bbi.2011.09.008 · DOI
  47. Croen, 2008, Maternal mid-pregnancy autoantibodies to fetal brain protein: The early markers for autism study, Biol Psychiatry, 64, 583, 10.1016/j.biopsych.2008.05.006 · DOI · Paper page
  48. Singer, 2008, Antibodies against fetal brain in sera of mothers with autistic children, J Neuroimmunol, 194, 165, 10.1016/j.jneuroim.2007.11.004 · DOI · Paper page
  49. Enstrom, 2009, Autoimmunity in autism, Curr Opin Investig Drugs, 10, 463
  50. Suren, 2013, Association between maternal use of folic acid supplements and risk of autism spectrum disorders in children, JAMA, 309, 570, 10.1001/jama.2012.155925 · DOI · Paper page
  51. Sandin, 2012, Advancing maternal age is associated with increasing risk for autism: A review and meta-analysis, J Am Acad Child Adolesc Psychiatry, 51, 477, 10.1016/j.jaac.2012.02.018 · DOI · Paper page
  52. Idring, 2014, Parental age and the risk of autism spectrum disorders: Findings from a Swedish population-based cohort, Int J Epidemiol, 43, 107, 10.1093/ije/dyt262 · DOI · Paper page
  53. D’Onofrio, 2014, Paternal age at childbearing and offspring psychiatric and academic morbidity, JAMA Psychiatry, 71, 432, 10.1001/jamapsychiatry.2013.4525 · DOI · Paper page
  54. Lyall, 2014, Maternal lifestyle and environmental risk factors for autism spectrum disorders, Int J Epidemiol, 43, 443, 10.1093/ije/dyt282 · DOI · Paper page
  55. Tsuang, 2004, Gene-environment interactions in mental disorders, World Psychiatry, 3, 73
  56. Yang, 1997, Evolving methods in genetic epidemiology. III. Gene-environment interaction in epidemiologic research, Epidemiol Rev, 19, 33, 10.1093/oxfordjournals.epirev.a017944 · DOI · Paper page
  57. Kendler, 2010, Interpretation of interactions: Guide for the perplexed, Br J Psychiatry, 197, 170, 10.1192/bjp.bp.110.081331 · DOI
  58. Ahlbom, 2005, Interaction: A word with two meanings creates confusion, Eur J Epidemiol, 20, 563, 10.1007/s10654-005-4410-4 · DOI · Paper page
  59. van der Mei, 2014, Meta-analyses to investigate gene-environment interactions in neuroepidemiology, Neuroepidemiology, 42, 39, 10.1159/000355439 · DOI
  60. Garcia-Closas, 2013, Common genetic polymorphisms modify the effect of smoking on absolute risk of bladder cancer, Cancer Res, 73, 2211, 10.1158/0008-5472.CAN-12-2388 · DOI
  61. Kendler, 1986, Models for the joint effect of genotype and environment on liability to psychiatric illness, Am J Psychiatry, 143, 279, 10.1176/ajp.143.3.279 · DOI · Paper page
  62. Jaffee, 2007, Gene-environment correlations: A review of the evidence and implications for prevention of mental illness, Mol Psychiatry, 12, 432, 10.1038/sj.mp.4001950 · DOI · Paper page
  63. Fairchild, 2013, Research review: Evaluating and reformulating the developmental taxonomic theory of antisocial behaviour, J Child Psychol Psychiatry, 54, 924, 10.1111/jcpp.12102 · DOI · Paper page
  64. Gatto, 2004, Further development of the case-only design for assessing gene-environment interaction: Evaluation of and adjustment for bias, Int J Epidemiol, 33, 1014, 10.1093/ije/dyh306 · DOI
  65. Albert, 2001, Limitations of the case-only design for identifying gene-environment interactions, Am J Epidemiol, 154, 687, 10.1093/aje/154.8.687 · DOI · Paper page
  66. Glasson, 2004, Perinatal factors and the development of autism: A population study, Arch Gen Psychiatry, 61, 618, 10.1001/archpsyc.61.6.618 · DOI · Paper page
  67. Xu, 2001, Fetal and adolescent nicotine administration: Effects on CNS serotonergic systems, Brain Res, 914, 166, 10.1016/S0006-8993(01)02797-4 · DOI · Paper page
  68. Slotkin, 2006, Prenatal nicotine exposure alters the responses to subsequent nicotine administration and withdrawal in adolescence: Serotonin receptors and cell signaling, Neuropsychopharmacology, 31, 2462, 10.1038/sj.npp.1300988 · DOI
  69. Pletnikov, 2002, Effects of genetic background on neonatal Borna disease virus infection-induced neurodevelopmental damage. II. Neurochemical alterations and responses to pharmacological treatments, Brain Res, 944, 108, 10.1016/S0006-8993(02)02724-5 · DOI
  70. Volk, 2014, Autism spectrum disorder interaction of air pollution with the MET receptor tyrosine kinase gene, Epidemiology, 25, 44, 10.1097/EDE.0000000000000030 · DOI · Paper page
  71. Boffetta, 2012, Recommendations and proposed guidelines for assessing the cumulative evidence on joint effects of genes and environments on cancer occurrence in humans, Int J Epidemiol, 41, 686, 10.1093/ije/dys010 · DOI · Paper page
  72. Gauderman, 2006, QUANTO 1.1: A computer program for power and sample size calculations for genetic-epidemiology studies.
  73. Stoltenberg, 2010, The autism birth cohort: A paradigm for gene-environment-timing research, Mol Psychiatry, 15, 676, 10.1038/mp.2009.143 · DOI · Paper page
  74. Madsen, 2002, MMR vaccination and autism—a population-based follow-up study [in Danish], Ugeskr Laeger, 164, 5741
  75. Tran, 2013, Smoking during pregnancy and risk of autism spectrum disorder in a Finnish National Birth Cohort, Paediatr Perinat Epidemiol, 27, 266, 10.1111/ppe.12043 · DOI · Paper page
  76. Power, 2013, Fecundity of patients with schizophrenia, autism, bipolar disorder, depression, anorexia nervosa or substance abuse vs their unaffected siblings, JAMA Psychiatry, 70, 22, 10.1001/jamapsychiatry.2013.268 · DOI · Paper page
  77. Newschaffer, 2012, Infant siblings and the investigation of autism risk factors, J Neurodev Disord, 4, 1, 10.1186/1866-1955-4-7 · DOI
  78. White, 1998, Exposure measurement in cohort studies: The challenges of prospective data collection, Epidemiol Rev, 20, 43, 10.1093/oxfordjournals.epirev.a017971 · DOI
  79. Di Sclafani, 2008, Treatment-naive active alcoholics have greater psychiatric comorbidity than normal controls but less than treated abstinent alcoholics, Drug Alcohol Depend, 98, 115, 10.1016/j.drugalcdep.2008.04.019 · DOI
  80. Balshaw, 2012, Innovative methods for improving measures of the personal environment, Am J Prev Med, 42, 558, 10.1016/j.amepre.2012.02.002 · DOI
  81. Kato, 2013, Insights into the genetic basis of type 2 diabetes, J Diabetes Investig, 4, 233, 10.1111/jdi.12067 · DOI
  82. Patel, 2013, Systematic identification of interaction effects between genome- and environment-wide associations in type 2 diabetes mellitus, Hum Genet, 132, 495, 10.1007/s00439-012-1258-z · DOI
  83. Vinkhuyzen, 2013, Estimation and partition of heritability in human populations using whole-genome analysis methods, Annu Rev Genet, 47, 75, 10.1146/annurev-genet-111212-133258 · DOI · Paper page

Cited by

See all 227

Metadata

Authors
Kim, Y. S., & Leventhal, B. L.
Venue
Biological Psychiatry
Publisher
Elsevier BV
Published
2015-01
Volume
77
Issue
1
Pages
66-74
ISSN
0006-3223 (ISSN-L)
DOI
10.1016/j.biopsych.2014.11.001
OpenAlex
W2010765482
Cited by
227
References
62
FWCI
9.70
Type
journal article
Language
en
Open access
green
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review

How to cite

Cite CoChat for the checks on this page, and the paper for its own findings.

This page
CoChat. (2026). Citation check: Genetic Epidemiology and Insights into Interactive Genetic and Environmental Effects in Autism Spectrum Disorders. https://app.cochat.ai/papers/10.1016/j.biopsych.2014.11.001
The paper
Kim, Y. S., & Leventhal, B. L. (2015). Genetic Epidemiology and Insights into Interactive Genetic and Environmental Effects in Autism Spectrum Disorders. Biological Psychiatry. https://doi.org/10.1016/j.biopsych.2014.11.001

Data sources

Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.