Excess of twins among affected sibling pairs with autism: implications for the etiology of autism
- PMID: 11590546
- PMCID: PMC1274353
- DOI: 10.1086/324191
Excess of twins among affected sibling pairs with autism: implications for the etiology of autism
Abstract
It is widely accepted that genes play a role in the etiology of autism. Evidence for this derives, in part, from twin data. However, despite converging evidence from gene-mapping studies, aspects of the genetic contribution remain obscure. In a sample of families selected because each had exactly two affected sibs, we observed a remarkably high proportion of affected twin pairs, both MZ and DZ. Of 166 affected sib pairs, 30 (12 MZ, 17 DZ, and 1 of unknown zygosity) were twin pairs. Deviation from expected values was statistically significant (P<10(-6) for all twins); in a similarly ascertained sample of individuals with type I diabetes, there was no deviation from expected values. We demonstrate that to ascribe the excess of twins with autism solely to ascertainment bias would require very large ascertainment factors; for example, affected twin pairs would need to be, on average, approximately 10 times more likely to be ascertained than affected non-twin sib pairs (or 7 times more likely if "stoppage" plays a role). Either risk factors (related to twinning or to fetal development) or other factors (genetic or nongenetic) in the parents may contribute to autism.
Comment in
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Increased rate of twins among affected sib pairs.Am J Hum Genet. 2002 Oct;71(4):995-6; author reply 996-9. doi: 10.1086/342991. Am J Hum Genet. 2002. PMID: 12387274 Free PMC article. No abstract available.
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