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master's thesis
A genome-wide association study of maternal genetic effects in autism spectrum disorder
Zagreb: University of Zagreb, Faculty of Science, 2021. urn:nbn:hr:217:168612
Vučinić, Kim
University of Zagreb
Faculty of Science
Department of Biology

Institutional repository: Repository of the Faculty of Science

Cite this document

Vučinić, K. (2021). A genome-wide association study of maternal genetic effects in autism spectrum disorder (Master's thesis). Zagreb: University of Zagreb, Faculty of Science. Retrieved from https://urn.nsk.hr/urn:nbn:hr:217:168612

Vučinić, Kim. "A genome-wide association study of maternal genetic effects in autism spectrum disorder." Master's thesis, University of Zagreb, Faculty of Science, 2021. https://urn.nsk.hr/urn:nbn:hr:217:168612

Vučinić, Kim. "A genome-wide association study of maternal genetic effects in autism spectrum disorder." Master's thesis, University of Zagreb, Faculty of Science, 2021. https://urn.nsk.hr/urn:nbn:hr:217:168612

Vučinić, K. (2021). 'A genome-wide association study of maternal genetic effects in autism spectrum disorder', Master's thesis, University of Zagreb, Faculty of Science, accessed 27 December 2024, https://urn.nsk.hr/urn:nbn:hr:217:168612

Vučinić K. A genome-wide association study of maternal genetic effects in autism spectrum disorder [Master's thesis]. Zagreb: University of Zagreb, Faculty of Science; 2021 [cited 2024 December 27] Available at: https://urn.nsk.hr/urn:nbn:hr:217:168612

K. Vučinić, "A genome-wide association study of maternal genetic effects in autism spectrum disorder", Master's thesis, University of Zagreb, Faculty of Science, Zagreb, 2021. Available at: https://urn.nsk.hr/urn:nbn:hr:217:168612

Metadata
TitleA genome-wide association study of maternal genetic effects in autism spectrum disorder
Title (croatian)Analiza utjecaja majčinog genotipa na razvoj poremećaja iz spektra autizma kod djece metodom genomske asocijacije
AuthorKim Vučinić
MentorDenis Shields (mentor)
MentorKristian Vlahoviček (sumentor)
Committee memberKristian Vlahoviček (predsjednik povjerenstva)
Committee memberSofia Ana Blažević (član povjerenstva)
Committee memberDamjan Franjević (član povjerenstva)
Committee memberRosa Karlić (član povjerenstva)
GranterUniversity of Zagreb
Faculty of Science
(Department of Biology)
Zagreb
Defense date and country2021-02-26, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Abstract
Around 2% of children in the world are diagnosed with autism spectrum disorder (ASD), a family of conditions influenced by both genetic and environmental factors. Findings suggest that maternal genetic composition affects the development of ASD in offspring. The subject matter is underresearched and the replication of findings is problematic. The aim of this study was to identify potential candidate loci in mothers that might increase the risk of development of ASD in offspring. A case-control genome-wide association study was performed on the SPARK dataset (n = 27,290) that consists of quad, trio and duo families where one or multiple individuals can be affected. Affected children’s mothers were used as cases and affected children’s fathers as controls. Maternal genetic effects were also modelled with log-linear models proposed by Weinberg (1999). In addition, permutation tests were used to assess the significance of the Bayes factor that was used to rank SNPs according to their degree of association. The results indicate involvement of maternal genetic effect in the offspring’s development. The finding of variants associated with increased risk of developing ASD is important for understanding the aetiology of ASD, which could lead to better personalized medicine in the future.
Abstract (croatian)
Otprilike 2% djece u svijetu je dijagnosticirano s poreme´cajem iz spektra autizma, neurorazvojnim poreme´cajem koji ima genetske i okolišne uzroke. Istraživanja ukazuju na mogu´cnost utjecaja majˇcinog genotipa na razvoj autizma kod djeteta. Problematika je nedovoljno istražena te je replikacija potencijalnih kandidata u ve´cini sluˇcajeva neuspjela. Cilj ovog diplomskog rada je bio identificirati potencijalne genske markere u majkama koji pove´cavaju rizik razvoja poreme´caja iz spektra autizma kod djece. U ovom radu, genomska analiza je provedena na skupu podataka SPARK (n = 27 290) koji se sastoji od ˇcetveroˇclanih, troˇclanih i dvoˇclanih obitelji gdje je jedan ili više pojedinaca dijagnosticirano s poreme´cajem iz spektra autizma. Eksperiment je dizajniran tako da su majke sluˇcajevi, a oˇcevi kontrole u genomskoj analizi. Utjecaj majˇcinog genotipa je modeliran Weinberg log-linearnim modelom. Permutacijom je odred¯ena znacˇajnost geneticˇkih markera koji su rangirani ovisno o jaˇcini asocijacije po Bayesovom faktoru. Rezultati ukazuju na utjecaj majˇcinog genotipa na razvoj poreme´caja kod djece. Istraživanje genetiˇckih markera asociranih s pove´canim rizikom za razvoj poreme´caja iz spektra autizma je bitno za bolje razumijevanje etiologije autizma, što može poboljšati personaliziranu medicinu u budu´cnosti.
Keywords
Keywords (croatian)
Languageenglish
URN:NBNurn:nbn:hr:217:168612
Study programmeTitle: Molecular Biology
Study programme type: university
Study level: graduate
Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2021-07-22 10:16:50