biostudies-literatureUnknown6(1)Chatzigeorgiou C<h4>Background</h4>Autism spectrum disorder (ASD) shows significant clinical variability, likely due to a combination of genetic and environmental factors. Preterm birth is a known risk factor for ASD, occurring in approximately 13% of diagnosed individuals. While genetic factors contribute to preterm birth in the general population, the relationship between genetic variation, preterm birth, and ASD heterogeneity remains unclear.<h4>Methods</h4>We investigated the genetic factors associated with preterm birth in 31,947 autistic individuals using data from the SPARK (Simons Foundation Powering Autism Research for Knowledge) sample. We conducted 3 ancestry-specific genome-wide association studies for African/African American, admixed American, and non-Finnish European ancestries, followed byBiological psychiatry global open science100614https://www.ebi.ac.uk/biostudies/studies/S-EPMC12662992biostudies-literatureAutism Heterogeneity Related to Preterm Birth: Multi-Ancestry Results From the Simons Foundation Powering Autism Research for Knowledge Sample.PMC12662992Chatzigeorgiou CMullins NMahjani BKhachadourian VSouaiaia TAsgel ZJanecka MAvila MNfalseAutism Heterogeneity Related to Preterm Birth: Multi-Ancestry Results From the Simons Foundation Powering Autism Research for Knowledge Sample.<h4>Background</h4>Autism spectrum disorder (ASD) shows significant clinical variability, likely due to a combination of genetic and environmental factors. Preterm birth is a known risk factor for ASD, occurring in approximately 13% of diagnosed individuals. While genetic factors contribute to preterm birth in the general population, the relationship between genetic variation, preterm birth, and ASD heterogeneity remains unclear.<h4>Methods</h4>We investigated the genetic factors associated with preterm birth in 31,947 autistic individuals using data from the SPARK (Simons Foundation Powering Autism Research for Knowledge) sample. We conducted 3 ancestry-specific genome-wide association studies for African/African American, admixed American, and non-Finnish European ancestries, followed by2026-01-01T00:00:00Z2026 Jan2026-06-05T20:33:45.723Z2026-05-21T03:12:47.244ZS-EPMC126629924132142010.1016/j.bpsgos.2025.100614