帕金森病基因中的编码多态性与帕金森病易感性
Coding polymorphisms in the parkin gene and susceptibility to Parkinson disease.
作者信息
Lücking Christoph-Burkhard, Chesneau Véronique, Lohmann Ebba, Verpillat Patrice, Dulac Cyprien, Bonnet Anne-Marie, Gasparini Francesca, Agid Yves, Dürr Alexandra, Brice Alexis
机构信息
Institut National de la Santé et de la Recherche Médicale, Unit 289, Hôpital de la Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
出版信息
Arch Neurol. 2003 Sep;60(9):1253-6. doi: 10.1001/archneur.60.9.1253.
BACKGROUND
Mutations in the parkin gene, an E3 protein-ubiquitin ligase, cause autosomal recessive early-onset Parkinson disease (PD). The role of polymorphisms in the parkin gene as risk factors for PD is still unclear, as the results in the literature are contradictory.
PATIENTS
We compared the allele and genotype frequencies of the Ser167Asn, Arg366Trp, Val380Leu, and Asp394Asn polymorphisms in 194 patients with PD (92 familial and 102 sporadic) and 125 control subjects.
RESULTS
Homozygous Val380 was significantly associated with sporadic PD (P =.008). There was also a trend toward an association of homozygous Asp394 with familial PD (P =.07).
CONCLUSIONS
Some parkin polymorphisms appear to be risk factors for sporadic or familial PD. The functional effects of these coding polymorphisms need to be established, and further studies on parkin polymorphisms in PD should be undertaken.
背景
E3蛋白泛素连接酶帕金基因的突变会导致常染色体隐性早发性帕金森病（PD）。帕金基因多态性作为帕金森病风险因素的作用仍不明确，因为文献中的结果相互矛盾。
患者
我们比较了194例帕金森病患者（92例家族性和102例散发性）和125例对照者中Ser167Asn、Arg366Trp、Val380Leu和Asp394Asn多态性的等位基因和基因型频率。
结果
纯合子Val380与散发性帕金森病显著相关（P = 0.008）。纯合子Asp394与家族性帕金森病也有相关趋势（P = 0.07）。
结论
一些帕金基因多态性似乎是散发性或家族性帕金森病的风险因素。需要确定这些编码多态性的功能效应，并应对帕金森病中的帕金基因多态性开展进一步研究。
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