# Analysis of the DYNC1H1 Gene Polymorphic Variants’ Association with ASD Occurrence and Clinical Phenotype of Affected Children

## TL;DR

This study explores how specific gene variations in the DYNC1H1 gene relate to autism in children, finding some links in girls and early muscle tone changes.

## Contribution

The study identifies a novel association between a DYNC1H1 gene variant and autism in girls, and another variant with early muscle tone changes.

## Key findings

- The rs3818188 polymorphism is associated with ASD in a subgroup of girls.
- The rs2403015 polymorphism is linked to transient increased muscle tone in infancy.
- Overall, no polymorphism showed a significant association with ASD in the entire patient group.

## Abstract

Objectives: To analyze potential associations between three polymorphisms (rs3818188, rs941793, rs2403015) of the DYNC1H1 gene and the occurrence of autism spectrum disorder as well as the clinical phenotype of affected individuals. Methods: This family-based study included 206 children diagnosed with ASD and 364 of their biological parents. To examine the potential association between three polymorphisms of the DYNC1H1 gene and ASD occurrence, a transmission disequilibrium test was performed. Additionally, associations between the studied polymorphisms and the clinical phenotype of affected individuals were analyzed using the χ2 test. Results: None of the polymorphisms studied showed an association with ASD in the overall patient group. However, an association between the rs3818188 polymorphic variant and ASD was observed in a subgroup of girls, with the G allele being transmitted more than 2.5 times as frequently as the A allele. Moreover, several associations between the tested variants and features related to neuromotor development, communication, and social skills were observed in univariate analysis. However, after correction for multiple comparisons, only the association between the rs2403015 polymorphism and transient increase in muscle tone during infancy remained statistically significant. Conclusions: This study demonstrated an association between the rs3818188 polymorphism and ASD in a subgroup of girls. Additionally, the rs2403015 polymorphism was found to be associated with transient increase in muscle tone during infancy.