Aim

Parkinson’s Disease (PD) is a neurodegenerative disorder predisposing with genetic and environmental factors. The present study was undertaken to elucidate the possible association of NAT2 gene polymorphism in PD patients from south India.

Methods

Using previously validated PCR-RFLP assays, we genotyped 105 PD subjects and 101 healthy controls for N-acetyl transferase (NAT2) gene polymorphism.

Results

We observed a significantly elevated frequencies of NAT2 *5/6 (OR = 4.21; p < 0.029) and *5/7 (OR = 2.73; p < 0.025) genotypes and NAT2*5 (OR = 1.83; p < 0.039) allele among PD cases showing susceptible associations. The age at onset analysis revealed a significant association of NAT2 *4/6 (OR = 4.62; p < 0.05) genotype with early onset PD (EOPD). A positive association with early onset disease was observed for *5/7 (OR = 3.88; p < 0.075) genotype, however without statistical significance. Whereas, in late onset PD (LOPD) cases, significant susceptible association was observed for NAT2 *5/7 (OR = 5.27; p < 0.029) genotype. We observed a highly significant protective association for NAT2 *4/6 (OR = 0.27; p < 0.012) genotype and NAT2 *4 (OR = 0.52; p < 0.027) allele. The acetylator status phenotype analysis have revealed a higher risk for, ‘NAT2 slow acetylator’ in both overall PD (OR = 2.39; p < 0.002) and LOPD (OR = 2.88; p < 0.007). However, ‘NAT2 intermediate acetylator’ with a lower risk in both overall PD (OR = 0.47; p < 0.011) and LOPD (OR = 0.36; p < 0.007) cases revealed protective association.

Conclusions

Thus, our results revealed the possible susceptible association of NAT2 slow acteylator in PD pathogenesis in south Indian population.

中文翻译：

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N-乙酰基转移酶2慢乙酰化基因型与帕金森氏病在南印度人口中的关联。

目标

帕金森氏病（PD）是一种易受遗传和环境因素影响的神经退行性疾病。进行本研究以阐明印度南部PD患者中NAT2基因多态性的可能关联。

方法

使用先前验证的PCR-RFLP分析，我们对105位PD受试者和101位健康对照进行了N-乙酰基转移酶（NAT2）基因多态性的基因分型。

结果

我们观察到NAT2 * 5/6（OR = 4.21; p <0.029）和* 5/7（OR = 2.73; p <0.025）基因型和NAT2 * 5（OR = 1.83; p <0.039）等位基因的频率显着升高在显示易感性关联的PD病例中。发病年龄分析显示NAT2 * 4/6（OR = 4.62; p <0.05）基因型与早期发作PD（EOPD）显着相关。* 5/7（OR = 3.88; p <0.075）基因型与早期发病呈正相关，但无统计学意义。而在晚期PD（LOPD）病例中，观察到NAT2 * 5/7（OR = 5.27; p <0.029）基因型具有明显的易感性关联。我们发现NAT2具有高度重要的保护性关联* 4/6（OR = 0.27; p <0.012）基因型和NAT2 * 4（OR = 0.52; p <0.027）等位基因。乙酰化剂状态表型分析显示，总体PD（OR = 2.39; p <0.002）和LOPD（OR = 2.88; p <0.007）的“ NAT2慢速乙酰化剂”风险较高。但是，在整体PD（OR = 0.47; p <0.011）和LOPD（OR = 0.36; p <0.007）的病例中，风险较低的“ NAT2中间乙酰化剂”显示出保护性关联。

结论

因此，我们的研究结果揭示了NAT2慢肌动蛋白在印度南部人群PD发病中的可能易感性关联。