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Bu sayfa, 26. Dünya Psikiyatri Kongresi'nde sunulan çalışmanın yapay zekâ desteğiyle hazırlanmış Türkçe özetidir. Çalışmanın sahibi sunan yazarlardır; atıf için orijinal kaynağa başvurun.

Common Variant Discovery in Autism

Common variant discovery in autism

Although common variants account for most of the genetic liability to autism, only a few have been identified to date; an ongoing large-scale meta-analysis is revealing new loci.

The talk addresses why common variant discovery in autism has lagged behind rare variant research and discusses recent progress in this area. Autism is highly heritable, and common variants account for most of its genetic liability; however, while hundreds of risk genes have been identified through research on de novo and rare variants, only a few common variants have been identified. The main reasons for this are the need for very large GWAS samples to reliably detect individually small effects on risk and the substantial clinical and genetic heterogeneity across the autism spectrum. The presentation covers findings from the ongoing autism GWAS meta-analysis by the Autism Working Group of the Psychiatric Genomics Consortium (PGC), including the identification of new loci, overlap with genes implicated by rare variants, and tissue- and cell-type enrichment for common variant risk. It also discusses findings on disentangling the polygenic architecture of autism subgroups and genetically informed prediction of the risk of developing co-occurring conditions.

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