葡萄糖脑苷脂酶变异 T369M 不是瑞典帕金森病的危险因素。
Glucocerebrosidase variant T369M is not a risk factor for Parkinson's disease in Sweden.
机构信息
Department of Neuroscience, Karolinska Institutet, Solna, Sweden.
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
出版信息
Neurosci Lett. 2022 Jul 27;784:136767. doi: 10.1016/j.neulet.2022.136767. Epub 2022 Jun 30.
INTRODUCTION
Genetic variants in the Beta-glucocerebrosidase gene (GBA1) is a known risk factor for Parkinson's disease. The GBA1 mutations L444P, N370S and many other have been shown to associate with the disease in populations with diverse background. Some GBA1 polymorphisms have a less pronounced effect, and their pathogenicity has been debated. We have previously found associations with L444P, N370S and E326K and Parkinson's disease in Sweden.
METHOD
In this study we used pyrosequencing to genotype the T369M variant in a large Swedish cohort consisting of 1,131 patients with idiopathic Parkinson's disease, and 1,594 control subjects to evaluate the possibility of this variant conferring an increased risk for Parkinson's disease.
RESULTS
The minor allele frequency was 2.15% in patients and 1.76% in controls. Statistical analysis showed that there was no significant difference in allele frequency between patients and control subjects, p-value 0.37, Odds Ratio 1.23 with a 95% confidence interval of 0.82-1.83.
CONCLUSION
Our results suggest that T369M is not a risk factor for Parkinson's disease in the Swedish population.
简介
β-葡糖苷脑苷脂酶基因（GBA1）中的遗传变异是帕金森病的已知风险因素。已经表明，L444P、N370S 和许多其他 GBA1 突变与具有不同背景的人群中的疾病相关。一些 GBA1 多态性的影响较小，其致病性存在争议。我们之前在瑞典发现了与 L444P、N370S 和 E326K 与帕金森病的关联。
方法
在这项研究中，我们使用焦磷酸测序技术对一个由 1131 名特发性帕金森病患者和 1594 名对照组成的大型瑞典队列中的 T369M 变体进行基因分型，以评估该变体是否会增加帕金森病的风险。
结果
患者组的次要等位基因频率为 2.15%，对照组为 1.76%。统计分析显示，患者和对照组之间的等位基因频率没有显著差异，p 值为 0.37，优势比为 1.23，95%置信区间为 0.82-1.83。
结论
我们的结果表明，T369M 不是瑞典人群帕金森病的风险因素。
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