Naslov
ARHITEKTURA GENOMA ČOVJEKA U SHIZOFRENIJI I DRUGIM NEUROPSIHIJATRIJSKIM BOLESTIMA
(HUMAN GENOME ARCHITECTURE IN SCHIZOPHRENIA AND OTHER NEUROPSYCHIATRIC DISORDERS)

Autori
Buretić-Tomljanović, Alena

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
The Seventh ISABS Conference in Forensic, Anthropologic and Medical Genetics and Mayo Clinic Lectures in Translational Medicine ; Final Program and Abstracts / Schanfield, Moses ; Primorac, Dragan ; Vuk-Pavlović, Stanimir - , 2011, 247-247

Skup
Peti hrvatski kongres iz humane genetike

Mjesto i datum
Bol, otok Brač, Hrvatska, 20.06.2011. - 21.06.2011

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
shizofrenija; neuropsihijatrijske bolesti; strukturne promjene genoma; ponavljanja s malim brojem kopija; varijacije broja kopija
(schizophrenia; neuropsychiatric disorders; structural genomic rearrangements; low copy repeats; copy number variation)

Sažetak
Objectives: It is hypothesized that rare structural variants in the human genome might contribute to schizophrenia and other neuropsychiatric disorders. Findings: Structural variation in the human genome such as deletions, duplications, and inversions, that alter gene dosage, might explain genetic contributions to normal variability of complex traits, but also to developmental anomalies and diseases. Large (>1 Mb) gene copy number variations (CNVs) are often associated with higher penetrance and more severe clinical features. Structural genomic rearrangements in schizophrenia are thought to preferentially disrupt genes that might be involved in nervous system development and function. Several studies have reported higher prevalence of rare CNVs in patients with schizophrenia compared to healthy comparison groups. Although a great majority of CNVs detected in schizophrenia represent rare and unique events, some of them appear recurrently: 22q11.2, 1q21.1, 2p16.3, and 15q13.3 deletions. Recurrent rare CNVs support the hypothesis of the elevated rate of de novo mutations in schizophrenia. Conclusion: The potential role of structural genomic variations in etiology of schizophrenia and other neuropsychiatric disorders needs further attention.

Izvorni jezik
Hrvatski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA