ARHITEKTURA GENOMA ČOVJEKA U SHIZOFRENIJI I DRUGIM NEUROPSIHIJATRIJSKIM BOLESTIMA (CROSBI ID 573769)
Prilog sa skupa u zborniku | sažetak izlaganja sa skupa | međunarodna recenzija
Podaci o odgovornosti
Buretić-Tomljanović, Alena
hrvatski
ARHITEKTURA GENOMA ČOVJEKA U SHIZOFRENIJI I DRUGIM NEUROPSIHIJATRIJSKIM BOLESTIMA
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.
shizofrenija; neuropsihijatrijske bolesti; strukturne promjene genoma; ponavljanja s malim brojem kopija; varijacije broja kopija
nije evidentirano
engleski
HUMAN GENOME ARCHITECTURE IN SCHIZOPHRENIA AND OTHER NEUROPSYCHIATRIC DISORDERS
nije evidentirano
schizophrenia; neuropsychiatric disorders; structural genomic rearrangements; low copy repeats; copy number variation
nije evidentirano
Podaci o prilogu
247-247.
2011.
objavljeno
Podaci o matičnoj publikaciji
Schanfield, Moses ; Primorac, Dragan ; Vuk-Pavlović, Stanimir
Podaci o skupu
PETI HRVATSKI KONGRES IZ HUMANE GENETIKE
predavanje
20.06.2011-23.06.2011
Bol, Hrvatska