rs505802

This variant is located in the SLC22A12 gene.

▶

GWAS Catalog Trait Associations (6)

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

urate measurement

Cho C et al. “Large-scale cross-ancestry genome-wide meta-analysis of serum urate.” Nature Communications 15(1):3441 (2024)
Allele T
OR 0.10
p —
N 1,029,323
Meta-analysisLarge GWAS
multi-ancestry
Huffman JE et al. “Modulation of genetic associations with serum urate levels by body-mass-index in humans.” Plos One 10(3):e0119752 (2015)
Allele T
OR 0.10
p 1.0e-9
N 17,247
Large GWAS
European

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.01
p 6.0e-23
N 1,122,049
Large GWAS
European

overnutrition, obesity

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.03
p 2.0e-13
N 406,236
Major Consortium StudyLarge GWAS
European

drug use measurement, gout

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.20
p 3.0e-15
N 55,505
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

gout

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.15
p 1.0e-95
N 620,935
Major Consortium StudyLarge GWAS
multi-ancestry

uric acid measurement

Nakatochi M et al. “Genome-wide meta-analysis identifies multiple novel loci associated with serum uric acid levels in Japanese individuals.” Communications Biology 2:115 (2019)
Allele T
OR 0.05
p 7.0e-31
N 210,206
Meta-analysisLarge GWAS
multi-ancestry
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 0.06
p 2.0e-9
N 28,141
Meta-analysisLarge GWAS
European
▶

Research that mentions this SNP (2)

▶
The frequency of single nucleotide polymorphisms and their association with uric acid concentration based on data from genome-wide association studies in the Korean population
AssociationN=2,359Chang-Nam Son et al.(2014)· Rheumatology International

A two-part genetic association study in Korean populations examining SNP associations with serum uric acid (SUA) concentration. Study 1 compared minor allele frequencies of 40 SNPs associated with SUA across Korean, Japanese, and European descent populations in 1,957 subjects. Study 2 analyzed associations in 402 RA patients, finding rs12734001 (PPP1R12B) most significantly associated with SUA levels (P_trend = 2.29 × 10^-9) and rs3741414 (INHBC) with P_trend = 0.01. Results showed Korean SNP frequencies were more similar to Japanese than European populations.

Traits studied:gouthyperuricemiaserum uric acid concentration
PubMedDOIMetascience Observatory
▶
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

About SLC22A12

The protein encoded by this gene is a member of the organic anion transporter (OAT) family, and it acts as a urate transporter to regulate urate levels in blood. This protein is an integral membrane protein primarily found in epithelial cells of the proximal tubule of the kidney. An elevated level of serum urate, hyperuricemia, is associated with increased incidences of gout, and mutations in this gene cause renal hypouricemia type 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

View all SLC22A12 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…