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评估 VRK2、rs4380187 多态性与中国汉族人群精神分裂症遗传易感性的关系。

Evaluation of the relationship between VRK2, rs4380187 polymorphisms, and genetic susceptibility to schizophrenia in the Chinese Han population.

机构信息

Institute of Mental Health, Anning Hospital, Hainan Province, China.

The Third Department of Psychiatry, Anning Hospital, Hainan Province, China.

出版信息

J Gene Med. 2021 Mar;23(3):e3313. doi: 10.1002/jgm.3313. Epub 2021 Jan 31.

Abstract

BACKGROUND

Schizophrenia (SZ) is a serious hereditary mental disease with a low recovery rate, especially due to the lack of understanding about the cause of the disease. VRK2 is considered to be related to the pathogenesis of schizophrenia. In this study, we analyzed the correlation between VRK2, rs4380187 single-nucleotide polymorphism (SNP), and schizophrenia.

METHODS

Peripheral blood DNA was extracted using a genomic DNA extraction kit. The DNA samples were genotyped using the Agena MassARRAY platform, and four genetic models were applied to compute the odds ratios (ORs) and 95% confidence intervals (CIs) using unconditional logistic regression. The p value was obtained by the chi-square and t test for independent samples.

RESULTS

The C allele of rs4380187 SNP was significantly (p = 0.008) associated with decreased risk of SZ. The AA genotype of rs4380187 showed significantly (p = 0.009) lower frequency in cases with SZ than in controls and was associated with decreased risk of the disease. The frequency of the CA genotype of rs4380187 correlated with a 0.73-fold decreased risk of SZ (p = 0.033). In the co-dominant genetic model, the genotype of rs4380187 was associated with a decreased risk of SZ (p = 0.010). We also found that the log-additive model of rs4380187 significantly reduced the risk of SZ disease (p = 0.007).

CONCLUSION

This study provides further evidence that rs4380187 SNP is associated with SZ. This genotype variation could be associated with the psychopathology and cognitive function in SZ.

摘要

背景

精神分裂症(SZ)是一种严重的遗传性精神疾病,其康复率较低,尤其是由于对疾病原因缺乏了解。VRK2 被认为与精神分裂症的发病机制有关。在本研究中,我们分析了 VRK2 与 rs4380187 单核苷酸多态性(SNP)与精神分裂症的相关性。

方法

使用基因组 DNA 提取试剂盒提取外周血 DNA。使用 Agena MassARRAY 平台对 DNA 样本进行基因分型,并应用四种遗传模型,通过无条件逻辑回归计算比值比(OR)和 95%置信区间(CI)。使用卡方检验和独立样本 t 检验计算 p 值。

结果

rs4380187 SNP 的 C 等位基因与 SZ 风险降低显著相关(p=0.008)。rs4380187 的 AA 基因型在 SZ 病例中的频率明显低于对照组(p=0.009),与疾病风险降低相关。rs4380187 的 CA 基因型频率与 SZ 风险降低 0.73 倍相关(p=0.033)。在共显性遗传模型中,rs4380187 的基因型与 SZ 风险降低相关(p=0.010)。我们还发现 rs4380187 的对数相加模型显著降低了 SZ 疾病的风险(p=0.007)。

结论

本研究进一步证明了 rs4380187 SNP 与 SZ 相关。这种基因型变异可能与 SZ 的精神病理学和认知功能有关。

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