Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

In the citing paper

“It is known that autism is strongly influenced by the genome-in contrast to earlier speculation, ranges of heritability estimates generally center ~50 or 55%”

In the citing paper

“Two large, independent twin studies that examined the relative contributions of genetic heritability versus the shared environment similarly concluded that environmental factors were more predominant than genetic factors in determining autism risk [ 23 , 24 ].”

In the citing paper

“This is considerably lower than the 90% in earlier twin studies2–4 and closer to the 38% (14–67) reported in a recent California twin study7 but estimated with substantially higher precision”

In the citing paper

“Environmental chemical exposures may act through pathophysiologies, including the direct disruption of cells and structures of the nervous system, endocrine hormone- or immune system-mediated impacts, epigenetic changes, and more (Table 1).”

In the citing paper

“Several studies support currently the hypothesis that autism etiology is based on a polygenic and epistatic model.”

In the citing paper

“Hallmayer et al. (9) underline in their twin studies the involvement of both genetic and environmental factors in the development of ASD.”

In the citing paper

“In the Folstein and Rutter (29), Bailey et al. (30), and Hallmayer et al. (9) studies, concordance rates vary according to the diagnosis: the concordance rates are higher for the broader autism phenotype than for AD (full diagnostic criteria).”

In the citing paper

“The results of recent twin and family studies point toward a greater role for environmental contributions [29, 30]”

In the citing paper

“Secondly, genetics strongly contributes to the pathogenesis of AD, but many patients reveal no obviously pathogenic mutations or copy number variants, and initial heritability estimates as high as >90% [234] have been challenged by more recent twin studies [235].”

In the citing paper

“With one notable exception (Hallmayer et al., 2011), heritability estimates range from 52-90% (Chen et al., 2015; De Rubeis and Buxbaum, 2015a, b; Gaugler et al., 2014; Rosenberg et al., 2009; Sandin et al., 2014; Toro et al., 2010).”

In the citing paper

“Two recent studies report somewhat higher rates of concordance in DZ twins (31%), suggesting, that the contribution of shared environmental factors could be greater than had been previously estimated (Hallmayer et al., 2011; Rosenberg et al., 2009).”

In the citing paper

“Heritability estimates based on studies of clinically ascertained twin samples (Bailey et al., 1995; Folstein and Rutter, 1977; Hallmayer et al., 2011; Steffenburg et al., 1989) vary widely, from 38% to 90%, but it is clear that genes play a major role in ASD.”

In the citing paper

“This model predicts that relatives of female probands should be at increased risk for ASD as compared with relatives of male probands, which is supported by a recent twin study [32].”

In the citing paper

“Findings of ~60% concordance rate in monozygotic and ~25% concordance in dizygotic twin pairs”

In the citing paper

“have recalibrated heritability estimates for ASD”

In the citing paper

“and suggest that the gestational environment play a significant role in ASD susceptibility”

In the citing paper

“A recent, large, population-based twin study of ASD concordance”

In the citing paper

“recent reports have suggested that the environment may have a much larger role in causing ASD than had been initially proposed4,5.”

In the citing paper

“Early estimates of the heritability of ASD of around 90%14,15, and even recently revised estimates of between 38 and 54%, strongly suggest that genetic mutations are a major cause of ASD4,16.”

In the citing paper

“recent estimates suggest that between 50 and 60% of the risk for ASD is unaccounted for, which implies that environmental factors or gene–environment interactions contribute substantially to the risk for this disorder4,16.”

In the citing paper

“There is little evidence, however, that siblings of female probands exhibit a differential risk for the occurrence of categorical ASD [8, 21, 23–25].”

In the citing paper

“The current lack of evidence for a proband sex effect on recurrence mirrors a recent population-based study [8] and reports on clinically diagnosed ASD cases [23, 24].”

In the citing paper

“Heritable factors account for at least 50% of ASD risk with the remainder attributable to environmental factors acting alone or through interaction with genetics45.”

In the citing paper

“evidence from twin studies suggest that while heritability is quite high,9 there is also a substantial environmental component for ASD susceptibility.10”

In the citing paper

“Twin, family and population-based studies have shown ASD to be one of the most heritable of all psychiatric disorders, with heritability estimated at ~50% (see reviews in [119, 310]) and monozygotic twin concordance rates between 70 to 90% [1, 113, 139, 304, 344].”

In the citing paper

“These results are similar to those of recent population-based cohorts 4,9,10 as well as a recent metaanalysis of twin studies, 8 which estimated heritability in the range of 64% to 91%.”

In the citing paper

“and 3 population-based studies from Sweden recently estimated the heritability of ASD to be 83%, 9 80%, 4 and 66%. 10”

In the citing paper

“Another study recently challenged the high heritability model of autism, estimating the heritability of autism to be 55 %”