Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study.
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Günay Çağatay, Aykol Duygu, Özsoy Özlem, Sönmezler Ece, Hanci Yaren Sena, Kara Bülent, Akkoyunlu Sünnetçi Deniz, Cine Naci, Deniz Adnan, Özer Tolgahan, Ölçülü Cemile Büşra, Yilmaz Özlem, Kanmaz Seda, Yilmaz Sanem, Tekgül Hasan, Yildiz Nihal, Acar Arslan Elif, Cansu Ali, Olgaç Dündar Nihal, Kusgoz Fatma, Didinmez Elif, Gençpinar Pınar, Aksu Uzunhan Tuğçe, Ertürk Biray, Gezdirici Alper, Ayaz Akif, Ölmez Akgün, Ayanoğlu Müge, Tosun Ayşe, Topçu Yasemin, Kiliç Betül, Aydin Kürşad, Çağlar Ezgi, Ersoy Kosvali Özlem, Okuyaz Çetin, Besen Şeyda, Tekin Orgun Leman, Erol İlknur, Yüksel Deniz, Sezer Abdullah, Atasoy Ergin, Toprak Ülkühan, Güngör Serdal, Ozgor Bilge, Karadağ Meral, Dilber Cengiz, Şahinoğlu Bahtiyar, Uyur Yalçin Emek, Eldes Hacifazlioglu Nilüfer, Yaramiş Ahmet, Edem Pınar, Gezici Tekin Hande, Yilmaz Ünsal, Ünalp Aycan, Turay Sevim, Biçer Didem, Gül Mert Gülen, Dokurel Çetin İpek, Kirik Serkan, Öztürk Gülten, Karal Yasemin, Sanri Aslıhan, Aksoy Ayşe, Polat Muzaffer, Özgün Nezir, Soydemir Didem, Sarikaya Uzan Gamze, Ülker Üstebay Döndü, Gök Ayşen, Yeşilmen Mehmet Can, Yiş Uluç, Karakülah Gökhan, Bursali Ahmet, Oktay Yavuz, Hiz Kurul Semra
Аннотация
METHODS: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis.
RESULTS: Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively.
CONCLUSION: Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.