Dataset Information

Short communication: genetic variations of SLC2A9 in relation to Parkinson's disease.

ABSTRACT:

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.

SUBMITTER: Gao J

PROVIDER: S-EPMC3598344 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature

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Publications

Short communication: genetic variations of SLC2A9 in relation to Parkinson's disease.

Gao Jianjun J Xu Hong H Huang Xuemei X Chen Honglei H

Translational neurodegeneration 20130219 1

<h4>Background</h4>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.<h4>Methods</h4>We conducted a case-control study to examine twelve tag SNPs of the SLC2A9 ...[more]

PMID: 23422251

Similar Datasets

Project description:Parkinson's disease is a complex neurodegenerative disorder with a strong genetic component, for which most known disease-associated variants are single nucleotide polymorphisms (SNPs) and small insertions and deletions (indels). DNA repetitive elements account for >50% of the human genome; however, little is known of their contribution to Parkinson's disease aetiology. While select short tandem repeats (STRs) within candidate genes have been studied in Parkinson's disease, their genome-wide contribution remains unknown. Here we present the first genome-wide association study of STRs in Parkinson's disease. Through a meta-analysis of 16 imputed genome-wide association study cohorts from the International Parkinson's Disease Genomic Consortium (IPDGC), totalling 39 087 individuals (16 642 cases and 22 445 controls of European ancestry), we identified 34 genome-wide significant STR loci (P < 5.34 × 10-6), with the strongest signal located in KANSL1 [chr17:44 205 351:[T]11, P = 3 × 10-39, odds ratio = 1.31 (95% confidence interval = 1.26-1.36)]. Conditional-joint analyses suggested that four significant STRs mapping nearby NDUFAF2, TRIML2, MIRNA-129-1 and NCOR1 were independent from known risk SNPs. Including STRs in heritability estimates increased the variance explained by SNPs alone. Gene expression analysis of STRs (eSTRs) in RNA sequencing data from 13 brain regions identified significant associations of STRs influencing the expression of multiple genes, including known Parkinson's disease genes. Further functional annotation of candidate STRs revealed that significant eSTRs within NUDFAF2 and ZSWIM7 overlap with regulatory features and are associated with change in the expression levels of nearby genes. Here, we show that STRs at known and novel candidate loci contribute to Parkinson's disease risk and have functional effects in disease-relevant tissues and pathways, supporting previously reported disease-associated genes and giving further evidence for their functional prioritization. These data represent a valuable resource for researchers currently dissecting Parkinson's disease risk loci.

Dataset Information

Short communication: genetic variations of SLC2A9 in relation to Parkinson's disease.

Background

Methods

Results

Conclusion

Publications

Short communication: genetic variations of SLC2A9 in relation to Parkinson's disease.

Similar Datasets

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