精神分裂症的遗传见解：黎巴嫩人群中的ERBB4和GABRB2多态性

IF 2.9 Q3 NEUROSCIENCES

IBRO Neuroscience Reports Pub Date : 2025-08-29 DOI:10.1016/j.ibneur.2025.08.024

Jeanne d’arc Bacha , Nabiha Dannawi , Dana Yassine , Chadia Haddad , Georges Haddad , Dory Hachem

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引用次数: 0

摘要

ERBB4和GABRB2基因除了与各种环境因素有关外，还在各种神经现象中发挥着重要作用。目的探讨黎巴嫩精神分裂症患者ERBB4 rs839523 C/T和GABRB2 rs1816072 T/C多态性的流行情况。材料与方法采用问卷法进行病例对照研究，招募100名特征匹配的受试者。采用四引物扩增难突变系统聚合酶反应（T-ARMS PCR）评价所研究多态性的发生率。结果黎巴嫩人群中ERBB4 rs839523C/T多态性（基因型p = 0.096，等位基因p = 0.113）和GABRB2 rs1816072 T/C多态性（基因型p = 1.00，等位基因p = 0.15）与精神分裂症无相关性。然而，logistic回归模型显示，ERBB4中SNP rs839523的突变纯合子（TT）基因型与精神分裂症状态有显著性关系（p = 0.063）。当单独考虑等位基因时，逻辑回归没有显示任何显著的关联；而ERBB4 rs839523的C等位基因有显著性的趋势。结论ERBB4中rs839523 SNP的突变纯合子（TT）基因型具有显著性。这些发现表明ERBB4基因变异在精神分裂症易感性中的潜在作用，值得在更大的队列中进一步研究。

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Genetic insights into schizophrenia: ERBB4 and GABRB2 polymorphisms in the Lebanese population

Background

The ERBB4 and GABRB2 genes have been given their keen roles in various neurological phenomena, in addition to the involvement of various environmental factors.

Aim

To investigate the prevalence of ERBB4 rs839523 C/T and GABRB2 rs1816072 T/C polymorphisms in Lebanese patients with schizophrenia.

Materials and methods

A questionnaire-based case-control study recruiting 100 participants of matched characteristics was conducted. A Tetra Primer Amplification Refractory Mutation System Polymerase Reaction (T-ARMS PCR) was performed to evaluate the prevalence of the studied polymorphisms.

Results

There were no correlations found between schizophrenia and the ERBB4 rs839523C/T polymorphism (p = 0.096 for genotypes and p = 0.113 for alleles) or the GABRB2 rs1816072 T/C polymorphism (p = 1.00 for genotypes and p = 0.15 for alleles) in the Lebanese population. However, the logistic regression model showed that the mutant homozygous (TT) genotype of the SNP rs839523 in ERBB4 tended to be significant (p = 0.063) with the schizophrenia status. When considering alleles individually, the logistic regression did not reveal any significant associations; however, the C allele of ERBB4 rs839523 showed a trend toward significance.

Conclusion

Our findings revealed that the mutant homozygous (TT) genotype of the SNP rs839523 in ERBB4 showed a trend toward significance. These findings suggest a potential role for ERBB4 genetic variation in schizophrenia susceptibility, warranting further investigation in larger cohorts.

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