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Erschienen in: Brain Structure and Function 8/2021

09.08.2021 | Original Article

The effect of the PARK16 rs11240572 variant on brain structure in Parkinson's disease

verfasst von: Lu-yan Gu, Shao-bing Dai, Cheng Zhou, Ting Gao, Jing-jing Wu, Yi Fang, Xiao-jun Guan, Tao Guo, Ran Zheng, Chongyao Jin, Xiao-jun Xu, Zhe Song, Jun Tian, Xinzhen Yin, Min-min Zhang, Bao-rong Zhang, Yaping Yan, Jiali Pu

Erschienen in: Brain Structure and Function | Ausgabe 8/2021

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Abstract

Increasing evidence suggests that genetic factors play a key role in the development of Parkinson's disease (PD). The variant rs11240572 in the PARK16 gene locus is strongly associated with PD. However, its effect on the pathogenesis of PD is yet to be clarified. The objective of the study was to explore the effect of the PARK16 rs11240572 variant on brain structure in PD patients. A total of 51 PD patients were enrolled in the study and genotyped for the rs11240572 variant. Clinical assessments and MRI scans were conducted across all participants. Voxel-based morphometry (VBM) was used to investigate gray matter volume (GMV) of the whole brain between these two groups. Correlation analysis was performed to identify the relationships between GMV and clinical features. There were 17 rs11240572-A variant carriers and 34 non-carriers, with no significant demographic differences between these two groups. Compared with non-carriers, rs11240572-A carriers showed increased GMV in the left caudate nucleus and putamen, but decreased GMV in the left superior temporal gyrus and supramarginal gyrus. In non-carriers, left basal ganglia GMV was positively correlated with UPDRS III (r = 0.365, p = 0.034) and bradykinesia (r = 0.352, p = 0.042), but negatively correlated with MMSE (r =  – 0.344, p = 0.047), while in carriers negative correlation between basal ganglia GMV and MMSE was also observed (r =  – 0.666, p = 0.004). Moreover, the GMV of left temporoparietal cortex was positively associated with cognitive function in both groups (carriers, r = 0.692, p = 0.002; non-carriers, r = 0.879, p < 0.001). When reducing the sample size of non-carriers to the level of the carrier sample, similar correlations were observed in both groups. Our study showed that the PARK16 rs11240572 variant affects the brain structure of patients with PD, especially in the basal ganglia and temporoparietal cortex. This indicated that this variant might play an important role in the pathogenesis of PD.
Literatur
Metadaten
Titel
The effect of the PARK16 rs11240572 variant on brain structure in Parkinson's disease
verfasst von
Lu-yan Gu
Shao-bing Dai
Cheng Zhou
Ting Gao
Jing-jing Wu
Yi Fang
Xiao-jun Guan
Tao Guo
Ran Zheng
Chongyao Jin
Xiao-jun Xu
Zhe Song
Jun Tian
Xinzhen Yin
Min-min Zhang
Bao-rong Zhang
Yaping Yan
Jiali Pu
Publikationsdatum
09.08.2021
Verlag
Springer Berlin Heidelberg
Erschienen in
Brain Structure and Function / Ausgabe 8/2021
Print ISSN: 1863-2653
Elektronische ISSN: 1863-2661
DOI
https://doi.org/10.1007/s00429-021-02359-9

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