Medicina, Vol. 46 No. 2, 2010.
Kratko priopćenje
An association between minor physical anomalies in schizophrenia and polymorphisms in phospholipase A2 genes
Alena Buretić-Tomljanović
orcid.org/0000-0002-9840-1245
; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka, Hrvatska
Anja Petaros
; Zavod za sudsku medicinu, Medicinski fakultet Sveučilišta u Rijeci, Rijeka, Hrvatska
Sergej Nadalin
orcid.org/0000-0002-1601-9094
; Zavod za biologiju i medicinsku genetiku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka, Hrvatska
Gordana Rubeša
orcid.org/0000-0002-8751-1721
; Klinika za psihijatriju, Klinički bolnički centar Rijeka, Rijeka, Hrvatska
Draško Tomljanović
; Privatna medicinska ustanova
Gordana Žauhar
; Zavod za fiziku, Medicinski fakultet Sveučilišta u Rijeci, Rijeka, Hrvatska
Sažetak
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.
Ključne riječi
gene PLA2G4A; gene PLA2G4C; gene PLA2G6A; genetic polymorphisms; minor physical anomalies; schizophrenia
Hrčak ID:
53232
URI
Datum izdavanja:
7.6.2010.
Posjeta: 1.612 *