Integrative Functional Genomic Analysis in Multiplex Autism Families from Kazakhstan

Perfilyeva A. Bespalova K. Perfilyeva Y. Skvortsova L. Musralina L. Zhunussova G. Khussainova E. Iskakova U. Bekmanov B. Djansugurova L.
2022 Hindawi Limited

Disease Markers
2022 #2022

The study of extended pedigrees containing autism spectrum disorder- (ASD-) related broader autism phenotypes (BAP) offers a promising approach to the search for ASD candidate variants. Here, a total of 650,000 genetic markers were tested in four Kazakhstani multiplex families with ASD and BAP to obtain data on de novo mutations (DNMs), common, and rare inherited variants that may contribute to the genetic risk for developing autistic traits. The variants were analyzed in the context of gene networks and pathways. Several previously well-described enriched pathways were identified, including ion channel activity, regulation of synaptic function, and membrane depolarization. Perhaps these pathways are crucial not only for the development of ASD but also for ВАР. The results also point to several additional biological pathways (circadian entrainment, NCAM and BTN family interactions, and interaction between L1 and Ankyrins) and hub genes (CFTR, NOD2, PPP2R2B, and TTR). The obtained results suggest that further exploration of PPI networks combining ASD and BAP risk genes can be used to identify novel or overlooked ASD molecular mechanisms.

Text of the article Перейти на текст статьи

Institute of Genetics and Physiology, 93 Al-Farabi Ave., Almaty, 050060, Kazakhstan
Al-Farabi Kazakh National University, 71 Al-Farabi Ave., Almaty, 050040, Kazakhstan
M.A. Aitkhozhins Institute of Molecular Biology and Biochemistry, 86 Dosmukhamedov St., Almaty, 050012, Kazakhstan
Branch of the National Center for Biotechnology, 14 Zhahanger St., Almaty, 050054, Kazakhstan
Kazakh National Medical University, 94 Tole Bi St., Almaty, 050000, Kazakhstan

Institute of Genetics and Physiology
Al-Farabi Kazakh National University
M.A. Aitkhozhins Institute of Molecular Biology and Biochemistry
Branch of the National Center for Biotechnology
Kazakh National Medical University

10 лет помогаем публиковать статьи Международный издатель

Книга Публикация научной статьи Волощук 2026 Book Publication of a scientific article 2026