Parkinson’s Disease Risk Variant rs1109303 Regulates the Expression of INPP5K and CRK in Human Brain
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Parkinson’s disease (PD) is the second most common neurodegenerative disease in the elderly [1, 2]. PD affects 1%–2% of the world’s population older than 65 years [3, 4, 5]. In recent years, large-scale genome-wide association studies (GWAS) have been widely conducted to identify the common genetic risk genes for PD. A number of PD susceptibility genes have been identified, including SNCA, MAPT, NUCKS1, the HLA region, GAK, BST1, GBA, WNT3, RIT2, and LRRK2 [3, 4, 5].
It has been reported that the serum urate level is associated with PD risk and progression . In 2015, Nazeri et al. conducted a GWAS and highlighted an association of the rs1109303 variant (T > G) within an intronic region of the INPP5K gene with the serum urate level (P = 2.01E-08) . The authors considered that the rs1109303 variant may impact PD progression by affecting the expression of nearby genes (MYO1C, PITPNA, SLC43A2, and CRK) , but they did not directly investigate this association, which...
This work was supported in part by the National Natural Science Foundation of China (81471212) and the Taishan Scholar Project to BLS.
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Competing financial interests
The authors declare no competing financial interests.
- 11.Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans. Science 2015, 348: 648–660.Google Scholar
- 15.Blazejewski SM, Bennison SA, Smith TH, Toyo-Oka K. Neurodevelopmental genetic diseases associated with microdeletions and microduplications of chromosome 17p13.3. Front Genet 2018, 9: 80.Google Scholar