线粒体DNA单倍群及三个独立多态性与东印度人群帕金森病风险无关联。
Mitochondrial DNA Haplogroups and Three Independent Polymorphisms have no Association with the Risk of Parkinson's Disease in East Indian Population.
作者信息
Saha Tania, Roy Somrita, Chakraborty Rajashree, Biswas Arindam, Das Shyamal K, Ray Kunal, Ray Jharna, Sengupta Mainak
机构信息
Department of Genetics, University of Calcutta, Kolkata, West Bengal, India.
S. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, West Bengal, India.
出版信息
Neurol India. 2021 Mar-Apr;69(2):461-465. doi: 10.4103/0028-3886.314553.
BACKGROUND
Parkinson's disease (PD) is a multifaceted illness affecting ~ 0.3% of the world population. The genetic complexity of PD has not been, fully elucidated. Several studies suggest that mitochondrial DNA variants are associated with PD.
OBJECTIVE
Here, we have explored the possibility of genetic association between mitochondrial haplogroups as well as three independent SNPs with PD in a representative east Indian population.
METHODS AND MATERIAL
The Asian mtDNA haplogroups: M, N, R, B, D, M7, and 3 other SNPs: 4336 T/C, 9055 G/A, 13708 G/A were genotyped in 100 sporadic PD patients and 100 matched controls via conventional PCR-RFLP-sequencing approach.
RESULTS
The distribution of mtDNA haplogroups, as well as 3 single polymorphisms, did not show any significant differences (P > 0.05) between patients and controls.
CONCLUSION
This is the first of its kind of study from India that suggests no association of selected mitochondrial DNA variations with PD.
背景
帕金森病（PD）是一种多方面的疾病，影响着全球约0.3%的人口。PD的遗传复杂性尚未完全阐明。多项研究表明线粒体DNA变异与PD有关。
目的
在此，我们探讨了在具有代表性的东印度人群中，线粒体单倍群以及三个独立的单核苷酸多态性（SNP）与PD之间的遗传关联可能性。
方法和材料
通过传统的聚合酶链反应-限制性片段长度多态性-测序方法，对100例散发性PD患者和100例匹配对照进行亚洲线粒体DNA单倍群：M、N、R、B、D、M7以及其他三个SNP：4336 T/C、9055 G/A、13708 G/A的基因分型。
结果
患者和对照之间线粒体DNA单倍群以及3个单态性的分布没有显示出任何显著差异（P>0.05）。
结论
这是印度首次此类研究，表明所选线粒体DNA变异与PD无关联。
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