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  2. 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).

  3. About 52 percent of the risk for autism was traced to common and rare inherited variation, with spontaneous mutations contributing a modest 2.6 percent of the total risk.

  4. 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.
  5. Feb 25, 2019 · ASD affects 1–1.5% of individuals and is highly heritable, and both common and rare variants contribute to its etiology 1, 2, 3, 4. Common variants have been estimated to account for a major...

    • Bupgen
    • 2019
  6. Aug 30, 2022 · 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 rate, common variations may ...

  7. Jun 15, 2022 · To date, numerous studies investigating the association between genetic variants and ASD risk have been published [ 9, 10, 11 ]. Most of these studies focused on identifying single nucleotide...

  8. 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 515% of ASD cases [ 5 ].