J. Karwowska, A. Polewko-Klim, B. Panasiuk, B. Stasiewicz-Jarocka, A.
Tafazoli, E. Dobrowolska, K. Jarząbek, R. Posmyk, N.
Wawrusiewicz-Kurylonek. Replication of rs10099100 Association with Autism Spectrum Disorder Risk in a Polish‐Origin Cohort. Research in Autism (Research in Autism Spectrum Disorders) 123 (2025),
202542. DOI: 10.1016/j.reia.2025.202542
Abstract
Background
The genetic basis of autism spectrum disorders (ASD) remains unidentified and unclear. The aim of our study was to conduct replication analyses of previously described ten single nucleotide polymorphisms in a group of candidate susceptibility ASD-genes and loci – SOX7, BEND4, FHIT, ATP2B2, PRKG1, LINC02720, EEF1A2, LOC100422212 and LINC02301 in autistic Polish child population.
Methods
The study population consisted of a group of 143 unrelated Polish-origin Caucasian patients with autism and 264 healthy subjects. The single nucleotide polymorphisms analysis was performed using the allelic discrimination technique. Boruta and random forest machine learning (ML) algorithms were used for identifying important genetic, and phenotypic markers in ASD patients.
Results
Our results identify the existence of a strong risk factor of the SOX7 gene polymorphism, namely C risk allele rs10099100 (P = 6.67e-13, odds ratio of 2.92 (OR)) for the development of ASD in the group of studied patients. This variant proved to be a typical male risk factor for developing boys-ASD group as compared to healthy boys (63 % vs 31 %, P = 4. 77e-11, OR of 3.69). For the nine remaining polymorphisms analyzed in our cohort, which have been described in other populations in the available literature, we did not achieve replicability.
Conclusions
Our results may be useful in screening and early diagnosis of children vulnerable to autism spectrum disorders. It will result in the immediate implementation of vital therapies, reasonable learning facilitations and social training, which brings about a greater chance to enjoy a better quality of life for people on the spectrum.