Balcerzyk-Matić Anna, Iwanicki Tomasz, Jarosz Alicja, Nowak Tomasz, Emich-Widera Ewa, Kazek Beata, Kapinos-Gorczyca Agnieszka, Kapinos Maciej, Iwanicka Joanna, Gawron Katarzyna, Likus Wirginia, Niemiec Paweł
Department of Biochemistry and Medical Genetics, Faculty of Health Sciences in Katowice, Medical University of Silesia in Katowice, Medykow Street 18, 40-752 Katowice, Poland.
Department of Pediatric Neurology, Faculty of Medical Science in Katowice, Medical University of Silesia in Katowice, Medykow Street 16, 40-752 Katowice, Poland.
Genes (Basel). 2025 Apr 28;16(5):510. doi: 10.3390/genes16050510.
To analyze potential associations between three polymorphisms (rs3818188, rs941793, rs2403015) of the gene and the occurrence of autism spectrum disorder as well as the clinical phenotype of affected individuals.
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 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 χ test.
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.
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.
分析某基因的三种多态性（rs3818188、rs941793、rs2403015）与自闭症谱系障碍的发生以及受影响个体的临床表型之间的潜在关联。
这项基于家庭的研究纳入了206名被诊断为自闭症谱系障碍的儿童及其364名亲生父母。为检验该基因的三种多态性与自闭症谱系障碍发生之间的潜在关联，进行了传递不平衡检验。此外，使用χ检验分析了所研究的多态性与受影响个体临床表型之间的关联。
在所研究的总体患者组中，没有一种多态性显示与自闭症谱系障碍有关联。然而，在女孩亚组中观察到rs3818188多态性变体与自闭症谱系障碍之间存在关联，G等位基因的传递频率是A等位基因的2.5倍以上。此外，在单变量分析中观察到了几个测试变体与神经运动发育、沟通和社交技能相关特征之间的关联。然而，在进行多重比较校正后，只有rs2403015多态性与婴儿期肌张力短暂增加之间的关联仍具有统计学意义。
本研究证明rs3818188多态性与女孩亚组中的自闭症谱系障碍之间存在关联。此外，发现rs2403015多态性与婴儿期肌张力短暂增加有关。
