n South African Journal of Psychiatry - Association between PNPLA8 gene polymorphism and schizophrenia in male patients : scientific letter

Volume 19, Issue 3
  • ISSN : 1608-9685
  • E-ISSN: 2078-6786



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 (>0.05), but further analysis with TDT showed that the rs40876 polymorphism was associated with schizophrenia in males (χ2=4.667, =0.031). Our data suggest that rs40876 in PNPLA8 may be associated with schizophrenia in males.

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