Abstract
Schizophrenia (SZ) is a common and complex psychiatric disorder that has a significant genetic component. The glutamatergic system is the major excitatory neurotransmitter system in the central nervous system, and is mediated by N-methyl-D-aspartate (NMDA) receptors. Disturbances in this system have been hypothesized to play a major role in SZ pathogenesis. Several studies have revealed that the NMDA receptor subunit 2B (GRIN2B) potentially associates with SZ and its psychiatric symptoms. In this study, we performed a case–control study to identify polymorphisms of the GRIN2B gene that may confer susceptibility to SZ in the Han Chinese population. Thirty-four single nucleotide polymorphisms (SNPs) were genotyped in 528 paranoid SZ patients and 528 control subjects. A significant association was observed in allele and genotype between SZ and controls at rs2098469 (χ2 = 8.425 and 4.994; p = 0.025 and 0.014, respectively). Significant associations were found in the allele at rs12319804 (χ2 = 4.436; p = 0.035), as well as in the genotype at rs12820037 and rs7298664 between SZ and controls (χ2 = 11.162 and 38.204; p = 0.003 and 4.27×10-8, respectively). After applying the Bonferroni correction, rs7298664 still had significant genotype associations with SZ (p = 1.71×10-7). In addition, rs2098469 genotype and allele frequencies, and 12820037 allele frequencies were nominally associated with SZ. Three haplotypes, CGA (rs10845849—rs12319804—rs10845851), CC (rs12582848—rs7952915), and AAGAC (rs2041986—rs11055665—rs7314376—rs7297101—rs2098469), had significant differences between SZ and controls (χ2 = 4.324, 4.582, and 4.492; p = 0.037, 0.032, and 0.034, respectively). In addition, three SNPs, rs2098469, rs12820037, and rs7298664, were significantly associated with cognition factors PANSS subscores in SZ (F = 16.799, 7.112, and 13.357; p = 0.000, 0.017, and 0.000, respectively). In conclusion, our study provides novel evidence for an association between GRIN2B polymorphisms and SZ susceptibility and symptoms in the Han Chinese population.
Highlights
Schizophrenia (SZ) is a common, chronic, and complex psychiatric disorder that includes delusions and hallucinations, reduced interest and drive, altered emotional reactivity, and disorganized behavior [1]
To reveal allelic variants of the GRIN2B gene that are associated with SZ, we analyzed the allele and genotype frequencies of thirty-four common single nucleotide polymorphisms (SNPs) in 528 SZ patients and 528 controls of Han Chinese descent
For a power above 80%, 392 cases are needed according to Genetic Power Calculator, so for genotype analyses, the sample size (n = 528) had sufficient power (0.70–0.80) to detect effects
Summary
Schizophrenia (SZ) is a common, chronic, and complex psychiatric disorder that includes delusions and hallucinations, reduced interest and drive, altered emotional reactivity, and disorganized behavior [1]. SZ affects 1.0% of the worldwide population [2]. Studies, including twin and adoption studies, provide evidence that SZ is predominantly a genetic disorder, and heritability estimates for SZ range from 60% to 80% [3,4,5]. SZ genetic research focused on identifying linkage regions, candidate genes, and polymorphisms. Data indicated susceptibility genes contributed to SZ [6,7,8,9]. Some results suggest that multiple, individual mutations that alter genes in neurotransmitter pathways contribute to SZ [10,11,12]
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