期刊
AMERICAN JOURNAL OF HUMAN GENETICS
卷 69, 期 5, 页码 1062-1067出版社
CELL PRESS
DOI: 10.1086/324191
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资金
- NIDDK NIH HHS [DK31813, R01 DK031813, DK31775, R01 DK031775] Funding Source: Medline
- NIMH NIH HHS [R01 MH048858, MH48858] Funding Source: Medline
- NINDS NIH HHS [NS27941, R01 NS027941] Funding Source: Medline
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, 10 times more likely to be ascertained than affected nontwin 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.
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