Association between epidermal growth factor receptor gene polymorphisms and susceptibility to Parkinson’s disease

Abstract

ObjectiveThe 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. MethodsA 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. ResultsWe 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. ConclusionThe 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.