rs734553

This variant is located in the SLC2A9 gene.

▶

GWAS Catalog Trait Associations (1)

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

uric acid measurement

Kolz M et al. “Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations.” Plos Genetics 5(6):e1000504 (2009)
Allele T
OR 0.40
p 1.0e-192
N 28,141
Meta-analysisLarge GWAS
European
Sulem P et al. “Identification of low-frequency variants associated with gout and serum uric acid levels.” Nature Genetics 43(11):1127-30 (2011)
Allele T
OR 0.24
p 1.0e-80
N 15,506
Large GWAS
European
▶

Research that mentions this SNP (2)

▶
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
PubMedDOIMetascience Observatory
▶
Role of the urate transporter SLC2A9 gene in susceptibility to gout in New Zealand Māori, Pacific Island, and Caucasian case–control sample sets
AssociationN=171Jade E. Hollis‐Moffatt et al.(2009)· Arthritis &amp; Rheumatism

This Uzbek-language master's dissertation investigated the association between GLUT9 gene rs734553 G/T polymorphism and hyperuricemia in the Uzbek population. Among 121 hyperuricemia patients, the TT genotype was significantly more common (58%) compared to healthy controls (2%), and the GT genotype was also elevated in cases (40.5%) versus controls (14%), while the GG genotype was rare in cases (1.5%) versus controls (84%), with highly significant association (p<0.001).

Traits studied:GoutHyperuricemia
PubMedDOIMetascience Observatory

About SLC2A9

This gene encodes a member of the SLC2A facilitative glucose transporter family. Members of this family play a significant role in maintaining glucose homeostasis. The encoded protein may play a role in the development and survival of chondrocytes in cartilage matrices. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]

View all SLC2A9 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…