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Scientific paper - Case study
Povezanost minor anomalija u shizofreniji i polimorfizama gena iz superobitelji fosfolipaza A2
Medicina Fluminensis : Medicina Fluminensis, 46 (2010), 2; 219-224. urn:nbn:hr:184:640188
Buretić-Tomljanović, Alena; Petaros, Anja; Nadalin, Sergej; Rubeša, Gordana; Tomljanović, Draško; Žauhar, Gordana

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Buretić Tomljanović, A., Petaros, A., Nadalin, S., Rubeša, G., Tomljanović, D. & Žauhar, G. (2010). Povezanost minor anomalija u shizofreniji i polimorfizama gena iz superobitelji fosfolipaza A2. Medicina Fluminensis : Medicina Fluminensis, 46. (2), 219-224. Retrieved from https://urn.nsk.hr/urn:nbn:hr:184:640188

Buretić Tomljanović, Alena, et al. "Povezanost minor anomalija u shizofreniji i polimorfizama gena iz superobitelji fosfolipaza A2." Medicina Fluminensis : Medicina Fluminensis, vol. 46, no. 2, 2010, pp. 219-224. https://urn.nsk.hr/urn:nbn:hr:184:640188

Buretić Tomljanović, Alena, Anja Petaros, Sergej Nadalin, Gordana Rubeša, Draško Tomljanović and Gordana Žauhar. "Povezanost minor anomalija u shizofreniji i polimorfizama gena iz superobitelji fosfolipaza A2." Medicina Fluminensis : Medicina Fluminensis 46, no. 2 (2010): 219-224. https://urn.nsk.hr/urn:nbn:hr:184:640188

Buretić Tomljanović, A., et al. (2010) 'Povezanost minor anomalija u shizofreniji i polimorfizama gena iz superobitelji fosfolipaza A2', Medicina Fluminensis : Medicina Fluminensis, 46(2), pp. 219-224. Available at: https://urn.nsk.hr/urn:nbn:hr:184:640188 (Accessed 25 November 2024)

Buretić Tomljanović A, Petaros A, Nadalin S, Rubeša G, Tomljanović D, Žauhar G. Povezanost minor anomalija u shizofreniji i polimorfizama gena iz superobitelji fosfolipaza A2. Medicina Fluminensis : Medicina Fluminensis [Internet]. 2010 June 07 [cited 2024 November 25];46(2):219-224. Available at: https://urn.nsk.hr/urn:nbn:hr:184:640188

A. Buretić Tomljanović, A. Petaros, S. Nadalin, G. Rubeša, D. Tomljanović and G. Žauhar, "Povezanost minor anomalija u shizofreniji i polimorfizama gena iz superobitelji fosfolipaza A2", Medicina Fluminensis : Medicina Fluminensis, vol. 46, no. 2, pp. 219-224, June 2010. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:184:640188. [Accessed: 25 November 2024]

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Title (croatian)Povezanost minor anomalija u shizofreniji i polimorfizama gena iz superobitelji fosfolipaza A2
Title (english)An association between minor physical anomalies in schizophrenia and polymorphisms in phospholipase A2 genes
AuthorAlena Buretić-Tomljanović
AuthorAnja Petaros
AuthorSergej Nadalin
AuthorGordana Rubeša
AuthorDraško Tomljanović
AuthorGordana Žauhar
Author's institutionUniversity of Rijeka
Faculty of Medicine
(Department of Biology and Medical Genetics)
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Basic Medical Sciences
Human Genetics, Genomics and Proteomics
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Psychiatry
Abstract (croatian)
Cilj: Neurorazvojna hipoteza shizofrenije implicira abnormalnu regulaciju metaboličke kaskade arahidonske kiseline (AA), a minor anomalije (MA) navode se kao potencijalni markeri abnormalnog razvoja mozga. U radu je istražena moguća povezanost varijacija u trima genima iz superobitelji fosfolipaza (PLA2) čiji su produkti uključeni u signalni put AA s pojavom MA glave i lica u shizofrenih bolesnika. Metode: U istraživanje su uključena 63 ispitanika (32 žene i 31 muškarac) Klinike za psihijatriju KBC-a Rijeka s potvrđenom dijagnozom shizofrenije prema DMS-IV kriterijima. Procijenjeno je 30 varijabli koje opisuju varijacije lica, očiju, nosa, usnica, nepca, jezika i ušiju, te određen ukupan broj MA u svakog ispitanika. Polimorfi zme gena PLA2G4A (rs10798059, G/A ili BanI polimorfi zam), PLA2G6A (rs4375, C/T) i PLA2G4C (rs1549637, A/T) analizirali smo PCRRFLP metodom. Rezultati : Pronađena je stati sti čki značajna povezanost između zbroja MA i PLA2G4C genoti pa (tauPLA2G4C = 0,214; P = 0,014) pri čemu je medijan zbroja MA bio najviši u TT homozigota i iznosio 13 (raspon od 10 do 16). Također smo utvrdili stati sti čki rubno značajnu interakciju PLA2G4A i PLA2G6A genoti pova, pri čemu je najviši medijan zbroja MA nađen u homozigota GG/CC (14; raspon od 10 do 22), odnosno u odsutnosti PLA2G4A-A ili PLA2G6A-T alela (P = 0,058). Zaključak: Rezultati upućuju na moguću povezanost varijacija u genima uključenim u rani razvoj živčanog sustava s pojavom MA glave i lica u shizofrenih bolesnika.
Abstract (english)
Aim: The neurodevelopmental hypothesis of schizophrenia implicates abnormal regulati on of the arachidonic acid (AA) metabolic cascade while minor physical anomalies (MPAs) are indicated as a potenti al markers of abnormal brain development in pati ents with schizophrenia. We tested whether risk for MPAs was associated with variati ons in three genes of phospholipase A2 (PLA2) superfamily as PLA2s play an important role in signaling pathway of AA. Methods: 63 pati ents (32 females and 31 males) from the Psychiatry Clinic, Clinical Medical Centre Rijeka, were recruited for this study; the diagnosis of schizophrenia was confi rmed using DSM-IV criteria. We investi gated 30 MPAs of the head and face regions, and correlated their total number with genotype and allelic variants of polymorphisms in genes PLA2G4A (rs10798059, G/A or BanI polymorphism), PLA2G6A (rs4375, C/T variation) and PLA2G4C (rs1549637, A/T variation). Genotyping was performed by PCR-RFLP method. Results: Significant correlati on was found between MPA total score and PLA2G4C genotype (tauPLA2G4C=0,214; P=0,014); the highest median was found in TT homozygotes (13; range=10-16). A trend for synergisti c eff ect of two polymorphisms, each one in PLA2G4A and PLA2G6A genotypes, was also detected. The highest MPA score median was found in GG/CC homozygotes (14; range=10-22; P=0,058) or in the absence of PLA2G4A-A and PLA-2G6A-T alleles. Conclusions: The results suggested possible associati on between parti cular variati ons in the genes crucial during early development of central nervous system (genes of the PLA2 superfamily) with higher total number of MPAs of the head and face.
Keywords (croatian)
Keywords (english)
Languagecroatian
Publication typeScientific paper - Case study
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleMedicina Fluminensis : Medicina Fluminensis
Numberingvol. 46, no. 2, pp. 219-224
p-ISSN0025-7729
URN:NBNurn:nbn:hr:184:640188
Publication2010-06-07
Document URLhttp://hrcak.srce.hr/53232
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2017-05-09 14:04:51