Short communication, Note
An association between minor physical anomalies in schizophrenia and polymorphisms in phospholipase A2 genes
Alena Buretić-Tomljanović
orcid.org/0000-0002-9840-1245
; Department of biology and medical genetics, Faculty of medicine, University of Rijeka, Rijeka, Croatia
Anja Petaros
; Department of forensic medicine, Faculty of medicine, University of Rijeka, Rijeka, Croatia
Sergej Nadalin
orcid.org/0000-0002-1601-9094
; Department of biology and medical genetics, Faculty of medicine, University of Rijeka, Rijeka, Croatia
Gordana Rubeša
orcid.org/0000-0002-8751-1721
; Clinics for psychiatry, Clinical hospital centre Rijeka, Rijeka, Croatia
Draško Tomljanović
; Private medical pratice
Gordana Žauhar
; Departmet of physics, Faculty of medicine, University of Rijeka, Rijeka, Croatia
Abstract
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
gene PLA2G4A; gene PLA2G4C; gene PLA2G6A; genetic polymorphisms; minor physical anomalies; schizophrenia
Hrčak ID:
53232
URI
Publication date:
7.6.2010.
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