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  2. 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. “Genetic variation likely accounts for roughly 60 percent of the liability for autism, with common variants comprising the bulk of its genetic architecture,” explained ...

  3. 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
  4. 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...

  5. 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 ].

  6. 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...

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