芬兰人群中对氧磷酶1（PON1）基因多态性与帕金森病的关系

Paraoxonase 1 (PON1) gene polymorphisms and Parkinson's disease in a Finnish population.

作者信息

Clarimon Jordi, Eerola Johanna, Hellström Olli, Tienari Pentti J, Singleton Andrew

机构信息

Molecular Genetics Section, Laboratory of Neurogenetics, National Institutes of Health, Building 10, Room 6C103, MSC 1589, 9000 Rockville Pike, Bethesda, MD 20892, USA.

出版信息

Neurosci Lett. 2004 Sep 2;367(2):168-70. doi: 10.1016/j.neulet.2004.05.108.

DOI:10.1016/j.neulet.2004.05.108

PMID:15331145

Abstract

Paraoxonase 1 (PON1) is involved in the metabolism and detoxification of insecticides and pesticides. Two polymorphisms within the gene affect the enzyme activity. One is a methionine to leucine change at position 54 (M54L) and the other is a glutamine to arginine variant at position 192 (Q192R). There are contrasting reports assessing the role of these variants in Parkinson's disease (PD). We performed a case--control association study in order to elucidate the possible contribution of variability within PON1 to the risk of sporadic PD in a Finnish population. There was no statistically significant association of the allele, genotype or haplotype distribution with PD (all P values > 0.75). Our results suggest that the M54L and Q192R polymorphisms are not major risk factors for PD in the Finnish population.

摘要

对氧磷酶1（PON1）参与杀虫剂和农药的代谢与解毒过程。该基因内的两种多态性会影响酶的活性。一种是第54位的甲硫氨酸变为亮氨酸（M54L），另一种是第192位的谷氨酰胺变为精氨酸（Q192R）。关于这些变体在帕金森病（PD）中的作用，有相互矛盾的报道。我们进行了一项病例对照关联研究，以阐明PON1基因变异对芬兰人群散发性PD风险的可能影响。等位基因、基因型或单倍型分布与PD之间无统计学显著关联（所有P值>0.75）。我们的结果表明，M54L和Q192R多态性不是芬兰人群PD的主要风险因素。