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Association between epidermal growth factor receptor gene polymorphisms and susceptibility to Parkinson's disease.
Neuroscience Letters ( IF 2.5 ) Pub Date : 2020-07-24 , DOI: 10.1016/j.neulet.2020.135273
Jianing Jin 1 , Li Xue 2 , Xinling Bai 1 , Xiaona Zhang 1 , Qingwu Tian 3 , Anmu Xie 1
Affiliation  

Objective

The progressive loss of dopaminergic neurons in the mesencephalic substantia nigra is recognized as an important pathological feature of Parkinson’s disease (PD). Several research studies have suggested that the EGFR signaling pathway may play a significant role in the survival and functional development of dopaminergic neurons. Therefore, genetic variations in these pathways may be related with PD susceptibility. The aim of our study was to explore the association between selected single nucleotide polymorphisms (SNPs) of the epidermal growth factor receptor (EGFR) gene, including rs730437, rs3752651 and rs11506105, and susceptibility to Parkinson’s disease in a Han Chinese population.

Methods

A total of 870 Han Chinese subjects, including 435 PD patients and 435 healthy controls, were enrolled in this case-control study. Peripheral blood was obtained from all subjects for DNA extraction, and selected SNPs (rs730437, rs3752651, rs11506105) of the EGFR gene were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Differences in the frequencies of genotype and allele gene polymorphisms between patients with PD and healthy controls were analyzed using the Chi-square test. Logistic regression analysis was applied for calculating the odds ratios (ORs) and 95 % confidence intervals (CIs) to evaluate potential associations.

Results

We observed statistically significant differences in rs730437 in the additive models (AC vs. AA: P = 0.047), dominant models (CC + AC vs. AA: P = 0.024) and alleles (C vs. A: P = 0.018). Further subgroup analyses indicated that the C allele of rs730437 showed lower prevalence in the EOPD, compared with matched controls (P = 0.005). The frequency of the GG genotype and G allele for rs11506105 was lower in PD subjects than in healthy controls in the entire study population (P = 0.028, P = 0.034, respectively) and female group (P = 0.024, P = 0.007, respectively). No significant association was found between rs3752651 polymorphism and PD susceptibility in either the whole or subgroup analyses. The analysis of gene haplotypes revealed that the AAT haplotype was related with PD susceptibility.

Conclusion

The rs730437 and rs11506105 polymorphisms, but not the rs3752651 polymorphism, of the EGFR gene may be related with susceptibility to PD in a Han Chinese population. An investigation using a larger sample size is warranted to further analyze potential associations between the EGFR gene and PD.



中文翻译:

表皮生长因子受体基因多态性与帕金森氏病易感性之间的关联。

目的

中脑黑质中多巴胺能神经元的逐渐丧失被认为是帕金森氏病(PD)的重要病理特征。多项研究表明,EGFR信号通路可能在多巴胺能神经元的存活和功能发育中起重要作用。因此,这些途径的遗传变异可能与PD的易感性有关。我们研究的目的是探讨表皮生长因子受体(EGFR)基因(包括rs730437,rs3752651和rs11506105)的选定单核苷酸多态性(SNP)与汉族人群对帕金森氏病的易感性之间的关联。

方法

该病例对照研究共纳入870名汉族受试者,包括435名PD患者和435名健康对照。从所有受试者中抽取外周血用于DNA提取,并使用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)对EGFR基因的选定SNP(rs730437,rs3752651,rs11506105)进行基因分型。使用卡方检验分析了PD患者与健康对照组之间基因型和等位基因多态性频率的差异。应用逻辑回归分析计算比值比(OR)和95%置信区间(CIs),以评估潜在的关联。

结果

我们在附加模型(AC与AA:P = 0.047),优势模型(CC + AC与AA:P = 0.024)和等位基因(C与A:P = 0.018)中观察到rs730437的统计学差异。进一步的亚组分析表明,与匹配的对照相比,rs730437的C等位基因在EOPD中的患病率较低(P = 0.005)。在整个研究人群(分别为P = 0.028,P = 0.034)和女性组(分别为P = 0.024,P = 0.007)中,PD受试者中rs11506105的GG基因型和G等位基因的频率低于健康对照组。 。在整个或亚组分析中,rs3752651多态性与PD易感性之间均未发现显着关联。基因单倍型分析表明,AAT单倍型与PD易感性有关。

结论

EGFR基因的rs730437和rs11506105多态性而非rs3752651多态性与汉族人群对PD的易感性有关。有必要使用更大样本量的研究来进一步分析EGFR基因与PD之间的潜在关联。

更新日期:2020-07-29
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