Related Experiment Video
Updated: May 14, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Short communication: genetic variations of SLC2A9 in relation to Parkinson's disease
Jianjun Gao1, Hong Xu, Xuemei Huang
1Epidemiology Branch, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA. chenh2@niehs.nih.gov.
Background:
Epidemiological studies showed that higher plasma urate was associated with lower risk for Parkinson's disease (PD) and slower disease progression. Recent genome-wide association studies (GWAS) consistently showed that several single nucleotide polymorphisms (SNPs) in the solute carrier family 2 member 9 gene (SLC2A9 ) were associated with plasma urate concentration and the risk of gout.
Methods:
We conducted a case-control study to examine twelve tag SNPs of the SLC2A9 gene in relation to PD among 788 cases and 911 controls of European ancestry. Odds ratios (OR) and 95% confidence intervals (CI) were derived from logistic regression models, adjusting for age, sex, smoking and caffeine consumption.
Results:
These SNPs were all in linkage disequilibrium (R2 > 0.7). None of them were associated with PD risk. Among women, however, there was a suggestion that the presence of the minor allele of one SNP (rs7442295) was related to a small increase in PD risk [OR (95% CI) = 1.48 (1.01-2.16)].
Conclusion:
This study provides little support for genetic variations of SLC2A9 and PD risk.
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Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs

