rs17300741

This variant is located in the SLC22A11 gene.

GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

urate measurement

Allele A
OR 0.05
p 4.0e-188
N 454,183
Meta-analysisLarge GWAS
European
Allele A
OR 0.05
p 4.0e-184
N 394,642
Large GWAS
European

gout

Allele A
OR 1.22
p 2.0e-30
N 332,370
Large GWAS
European

uric acid measurement

Allele A
OR 0.06
p 7.0e-14
N 28,141
Meta-analysisLarge GWAS
European

Research that mentions this SNP (1)

Genetic variability related to serum uric acid concentration and risk of Parkinson's disease
AssociationN=1,815Isabel González‐Aramburu et al.(2013)· Movement Disorders

This study analyzed 9 uric acid-regulating SNPs and 5 progranulin-regulating SNPs in 1,061 Parkinson's disease patients and 754 controls. A cumulative genetic risk score from 8 SNPs (SLC2A9 rs734553, ABCG2 rs2231142, SLC17A1 rs1183201, SLC22A12 rs505802, GCKR rs780094, PDZK1 rs12129861, LRRC16A/SCGN rs742132, SLC16A9 rs12356193) was significantly associated with increased PD risk (OR=1.55, p=0.012). The TMEM106b rs1020004 variant showed association with PD risk (p=0.003), and SORT1 rs646776 was associated with serum progranulin levels and PD-dementia risk.

Traits studied:Parkinson's diseaseParkinson's disease dementiaSerum progranulin levelsSerum uric acid levels

About SLC22A11

The protein encoded by this gene is involved in the sodium-independent transport and excretion of organic anions, some of which are potentially toxic. The encoded protein is an integral membrane protein and is found mainly in the kidney and in the placenta, where it may act to prevent potentially harmful organic anions from reaching the fetus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

View all SLC22A11 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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