Association between PNPLA8 gene polymorphism and schizophrenia in male patients

Qiong Yu, Yaqin Yu, Jieping Shi, Hong Sang


Abnormal phospholipid metabolism in the brain plays an important role in neuropsychiatric diseases. Phospholipase A2 is crucial for maintaining normal neuro-physiological function. The aim of this study was to investigate the association between polymorphisms of the membrane-associated calcium-independent phospholipase A2 gamma (PNPLA8) gene and schizophrenia in Han Chinese in north China. The PCR-based ligase detection reaction was applied to detect 3 single nucleotide polymorphisms (SNPs) in the PNPLA8 gene among 201 Chinese pedigrees. The genotypic frequency of the PNPLA8 polymorphisms did not deviate from the Hardy-Weinberg equilibrium both in affected offspring and parental groups. Haploid relative risk (HRR) and transmission disequilibrium tests (TDT) showed that the 3 SNPs were not associated with schizophrenia (p>0.05), but further analysis with TDT showed that the rs40876 polymorphism was associated with schizophrenia in males (χ2=4.667, p=0.031). Our data suggest that rs40876 in PNPLA8 may be associated with schizophrenia in males.



Schizophrenia; Calcium-independent phospholipase A2; Ligase detection reaction; Polymorphism

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Submitted: 29 April 2013
Published: 30 August 2013

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South African Journal of Psychiatry    |    ISSN: 1608-9685 (PRINT)    |    ISSN: 2078-6786 (ONLINE)