How might genetic mechanisms operate in autism?

Susan E. Folstein, Michael Dowd, Raymond Mankoski, Ovsanna Tadevosyan, [No Value] Bailey, [No Value] Pericak-Vance, [No Value] Sigman, [No Value] Bishop, [No Value] Monaco, [No Value] Dawson

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

Twin and family studies provide strong evidence that autism has a largely genetic aetiology. The pattern of familial aggregation suggests that in individual families, a small number of genes act together to cause the phenotype. However, it is unlikely that the same genes act in all families. Thus, the total number of genes involved could be large. One key to finding genes for disorders with considerable locus heterogeneity is to detect genetically more homogeneous subsamples. There exist several traits in families who have a child with autism - biochemical, physical, or behavioural - that are likely to reflect underlying genetic heterogeneity and can thus be used to divide families into more homogeneous subsets. These traits (1) show variation in autism samples; (2) are found in non-autistic family members more often than controls; (3) aggregate in particular autism families; and (4) result in increased signals when used in linkage analysis to define 'affected'.

Original languageEnglish
Pages (from-to)70-83
Number of pages14
JournalNovartis Foundation Symposium
Volume251
StatePublished - Dec 1 2003

Fingerprint

Autistic Disorder
genes
Genes
etiology
phenotype
loci
linkages
set theory
Agglomeration
disorders
Twin Studies
Genetic Heterogeneity
causes
Phenotype

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Folstein, S. E., Dowd, M., Mankoski, R., Tadevosyan, O., Bailey, N. V., Pericak-Vance, N. V., ... Dawson, N. V. (2003). How might genetic mechanisms operate in autism? Novartis Foundation Symposium, 251, 70-83.

How might genetic mechanisms operate in autism? / Folstein, Susan E.; Dowd, Michael; Mankoski, Raymond; Tadevosyan, Ovsanna; Bailey, [No Value]; Pericak-Vance, [No Value]; Sigman, [No Value]; Bishop, [No Value]; Monaco, [No Value]; Dawson, [No Value].

In: Novartis Foundation Symposium, Vol. 251, 01.12.2003, p. 70-83.

Research output: Contribution to journalArticle

Folstein, SE, Dowd, M, Mankoski, R, Tadevosyan, O, Bailey, NV, Pericak-Vance, NV, Sigman, NV, Bishop, NV, Monaco, NV & Dawson, NV 2003, 'How might genetic mechanisms operate in autism?', Novartis Foundation Symposium, vol. 251, pp. 70-83.
Folstein SE, Dowd M, Mankoski R, Tadevosyan O, Bailey NV, Pericak-Vance NV et al. How might genetic mechanisms operate in autism? Novartis Foundation Symposium. 2003 Dec 1;251:70-83.
Folstein, Susan E. ; Dowd, Michael ; Mankoski, Raymond ; Tadevosyan, Ovsanna ; Bailey, [No Value] ; Pericak-Vance, [No Value] ; Sigman, [No Value] ; Bishop, [No Value] ; Monaco, [No Value] ; Dawson, [No Value]. / How might genetic mechanisms operate in autism?. In: Novartis Foundation Symposium. 2003 ; Vol. 251. pp. 70-83.
@article{32783ba67cb34784a40b4a65ea366ef5,
title = "How might genetic mechanisms operate in autism?",
abstract = "Twin and family studies provide strong evidence that autism has a largely genetic aetiology. The pattern of familial aggregation suggests that in individual families, a small number of genes act together to cause the phenotype. However, it is unlikely that the same genes act in all families. Thus, the total number of genes involved could be large. One key to finding genes for disorders with considerable locus heterogeneity is to detect genetically more homogeneous subsamples. There exist several traits in families who have a child with autism - biochemical, physical, or behavioural - that are likely to reflect underlying genetic heterogeneity and can thus be used to divide families into more homogeneous subsets. These traits (1) show variation in autism samples; (2) are found in non-autistic family members more often than controls; (3) aggregate in particular autism families; and (4) result in increased signals when used in linkage analysis to define 'affected'.",
author = "Folstein, {Susan E.} and Michael Dowd and Raymond Mankoski and Ovsanna Tadevosyan and Bailey, {[No Value]} and Pericak-Vance, {[No Value]} and Sigman, {[No Value]} and Bishop, {[No Value]} and Monaco, {[No Value]} and Dawson, {[No Value]}",
year = "2003",
month = "12",
day = "1",
language = "English",
volume = "251",
pages = "70--83",
journal = "Scientific Computing and Instrumentation",
issn = "1078-8956",
publisher = "Springer Wien",

}

TY - JOUR

T1 - How might genetic mechanisms operate in autism?

AU - Folstein, Susan E.

AU - Dowd, Michael

AU - Mankoski, Raymond

AU - Tadevosyan, Ovsanna

AU - Bailey, [No Value]

AU - Pericak-Vance, [No Value]

AU - Sigman, [No Value]

AU - Bishop, [No Value]

AU - Monaco, [No Value]

AU - Dawson, [No Value]

PY - 2003/12/1

Y1 - 2003/12/1

N2 - Twin and family studies provide strong evidence that autism has a largely genetic aetiology. The pattern of familial aggregation suggests that in individual families, a small number of genes act together to cause the phenotype. However, it is unlikely that the same genes act in all families. Thus, the total number of genes involved could be large. One key to finding genes for disorders with considerable locus heterogeneity is to detect genetically more homogeneous subsamples. There exist several traits in families who have a child with autism - biochemical, physical, or behavioural - that are likely to reflect underlying genetic heterogeneity and can thus be used to divide families into more homogeneous subsets. These traits (1) show variation in autism samples; (2) are found in non-autistic family members more often than controls; (3) aggregate in particular autism families; and (4) result in increased signals when used in linkage analysis to define 'affected'.

AB - Twin and family studies provide strong evidence that autism has a largely genetic aetiology. The pattern of familial aggregation suggests that in individual families, a small number of genes act together to cause the phenotype. However, it is unlikely that the same genes act in all families. Thus, the total number of genes involved could be large. One key to finding genes for disorders with considerable locus heterogeneity is to detect genetically more homogeneous subsamples. There exist several traits in families who have a child with autism - biochemical, physical, or behavioural - that are likely to reflect underlying genetic heterogeneity and can thus be used to divide families into more homogeneous subsets. These traits (1) show variation in autism samples; (2) are found in non-autistic family members more often than controls; (3) aggregate in particular autism families; and (4) result in increased signals when used in linkage analysis to define 'affected'.

UR - http://www.scopus.com/inward/record.url?scp=1542471857&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=1542471857&partnerID=8YFLogxK

M3 - Article

C2 - 14521188

AN - SCOPUS:1542471857

VL - 251

SP - 70

EP - 83

JO - Scientific Computing and Instrumentation

JF - Scientific Computing and Instrumentation

SN - 1078-8956

ER -