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评估 ZNF804A 单核苷酸多态性 rs1344706 A/C 变体与汉族精神分裂症亚型的关系。

Evaluation of the relationship between the ZNF804A single nucleotide polymorphism rs1344706 A/C variant and schizophrenia subtype in Han Chinese patients.

机构信息

The Second Affiliated Hospital of Xinxiang Medical University, China.

出版信息

Int J Psychiatry Med. 2013;45(3):269-78. doi: 10.2190/PM.45.3.f.

Abstract

OBJECTIVE

Recent genome wide association studies (GWASs) assessing the relationship between schizophrenia (SZ) and the ZNF804A gene, particularly the single nucleotide polymorphism (SNP) rs1344706, have yielded conflicting results. Schizophrenia is a heterogeneous disorder, so it is possible that an association may be restricted to specific SZ subtypes and that population heterogeneity may obscure a contribution of ZNF804A allelic variation to SZ risk. We thus evaluated the association between rs1344706 and different clinical SZ subtypes in a large Han Chinese patient population.

METHOD

The rs1344706 genotype was determined in 1,025 SZ patients and 977 healthy controls using polymerase chain reaction restriction fragment length polymorphisms (PCR-RFLPs). The clinical SZ subtypes included paranoid, catatonic, disintegrated, and undifferentiated, diagnosed according to the Diagnostic and Statistical Manual of Mental Disorders-Fourth Edition IV (DSM-IV).

RESULTS

No significant differences in genotype and allele frequencies were found between controls and either the total SZ population (A > C, chi2 = 4.339, 2.994; p = 0.227, 0.087, respectively) or paranoid SZ patients (chi2 = 2.053, 0.002; p = 0.562, 0.973, respectively). However, there was a significant association between genotype frequency and SZ subtype (chi2 = 12.632, p = 0.049).

CONCLUSIONS

We found no evidence that the ZNF804A SNP rs1344706 is a susceptibility locus for SZ. However, conflicting results from previous association studies may be due to genetic heterogeneity between different patient SZ subtypes.

摘要

目的

最近的全基因组关联研究(GWAS)评估了精神分裂症(SZ)与 ZNF804A 基因之间的关系,特别是单核苷酸多态性(SNP)rs1344706,其研究结果存在冲突。精神分裂症是一种异质性疾病,因此关联可能仅限于特定的 SZ 亚型,而人群异质性可能掩盖了 ZNF804A 等位基因变异对 SZ 风险的贡献。因此,我们在一个大型汉族患者群体中评估了 rs1344706 与不同临床 SZ 亚型之间的关联。

方法

使用聚合酶链反应限制片段长度多态性(PCR-RFLP)法,在 1025 例 SZ 患者和 977 例健康对照中确定 rs1344706 基因型。根据《精神障碍诊断与统计手册-第四版》(DSM-IV)诊断的偏执型、紧张型、瓦解型和未分化型,将 SZ 临床亚型包括在内。

结果

在对照组与总 SZ 人群(A > C,chi2 = 4.339,2.994;p = 0.227,0.087,分别)或偏执型 SZ 患者(chi2 = 2.053,0.002;p = 0.562,0.973,分别)之间,基因型和等位基因频率均无显著差异。然而,基因型频率与 SZ 亚型之间存在显著关联(chi2 = 12.632,p = 0.049)。

结论

我们没有发现 ZNF804A SNP rs1344706 是 SZ 易感基因座的证据。然而,先前关联研究的结果存在冲突,可能是由于不同患者 SZ 亚型之间的遗传异质性所致。

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