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Feb 26, 2021 · CNVs can impact one or multiple genes and can occur at common or rare frequencies in a population. All CNVs associated with autism have been rare. Recurrent CNVs are among the most convincing rare inherited risk variations for autism, and have a prevalence of about 3% in affected patients (Bourgeron, 2016).
- Fig. 1
Relative risk of autism by degree of relatedness with a...
- Genetic Causes and Modifiers
ASD is highly genetically heterogeneous and may be caused by...
- Fig. 1
Jul 7, 2021 · The heritability of autism in addictive genetic effect (rare inherited and common inherited) is estimated to be 52%, and the non-additive genetic effect is approx. 7% including de novo mutations and non-additive effects [4,44]. To ascertain the genetic basis of ASD, more attention should be paid on the non-coding regions of the genome structure.
- Yue Zhang, Xuanshi Liu, Ruolan Guo, Wenjian Xu, Qi Guo, Chanjuan Hao, Xin Ni, Wei Li
- 10.1042/BSR20210593
- 2021
- Biosci Rep. 2021 Jul 30; 41(7): BSR20210593.
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Jun 15, 2022 · To date, numerous studies have investigated the associations between genetic variants and ASD risk. To provide a robust synthesis of published evidence of candidate gene studies for ASD, we...
Jun 2, 2022 · In a large family sample, we show that genetic loads of rare and polygenic risk are inversely correlated in cases and greater in females than in males, consistent with a liability threshold...
Aug 30, 2022 · Common genetic variants. ASD is not always induced by common genetic variants alone, with less of an impact of genes than rare variants. While rare variants have a very low prevalence...
Oct 9, 2021 · Increasing evidence suggests that the bulk of genetic risk associated with ASD may be due to single nucleotide polymorphisms (SNPs) and copy number variants (CNVs), rather than specific single-gene mutations or syndromic conditions, which constitute only approximately 5–15% of ASD cases [ 5 ].