Rs2231142

From SNPedia
Jump to: navigation, search

causes gout
is asnp
is mentioned by
dbSNPrs2231142
nextbiors2231142
hapmaprs2231142
1000 genomesrs2231142
hgdprs2231142
ensemblrs2231142
gopubmedrs2231142
scholarrs2231142
googlers2231142
pharmgkbrs2231142
gwascentralrs2231142
openSNPrs2231142
23andMers2231142
23andMe allrs2231142
SNP Nexus

SNPshotrs2231142
SNPdbers2231142
MSV3drs2231142
GeneABCG2
Chromosome4
Orientationminus
Position89052323
ReferenceGRCh37 37.1/131
Max Magnitude3.5
Geno Mag Summary
(A;A) 3.5 causes gout
(A;C) 1.1 1.74x increased gout risk; gefinitib takers 4x more susceptible to diarrhea
(C;C) 0 normal
? (A;A) (A;C) (C;C) 28
rs2231142, also known as Q141K and C421A, is a SNP in the ABCG2 gene, indicating a missense variant.

[PMID 19506252] "Our data indicate that at least 10% of all gout cases in whites are attributable to this causal variant."

A is the risk allele. A large study totaling 7,699 participants in the Framingham cohort and 4,148 participants in the Rotterdam cohort was conducted, with genome-wide significant SNPs then replicated in 11,000+ Caucasian and ~4,000 African-American individuals who took part in the study of Atherosclerosis Risk in Communities (ARIC). This study calculated an odds ratio of 1.74 for rs2231142 (CI: 1.51-1.99, p = 3.3x10e-15). A genetic score comprised of this SNP plus 2 others may stratify risk for gout. [PMID 18834626]

Among non-small cell lung cancer patients treated with gefitinib, there's a 4-5x higher risk of diarrhea for rs2231142 heterozygotes (and presumably minor allele homozygotes), based on a study of 124 patients treated with 250mg oral gefitinib once daily.[PMID 17148776]

rs2231142 also appears to influence the effectiveness of rosuvastatin. A study of 305 Chinese patients concluded that rs2231142(A;A) individuals showed a 7% greater reduction in LDL-C levels, equivalent to a doubling of the dose.[PMID 20130569]

See also: spittoon gout


[PMID 19503597] Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations

OMIM612670
DescURIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 3; UAQTL3
Variant
Relatedalso

[PMID 19890391] Common polymorphisms influencing serum uric Acid levels contribute to susceptibility to gout, but not to coronary artery disease

PharmGKBPA165109681
NameABCG2:421C>A, ABCG2:Q141K
Annotationstudy size=14, only SLCO1B1 521TT and CYP2C9*1/*1 wild-type homozygotes . ethnicity=Japanese. PK and signficance= AUC of rosuvastatin were lower in the 421CC group than in the 421CA+421AA group P=0.018; C(max) value was higher in the 421CA+421AA group than that in the 421CC group P=0.048; CL/F was lower in the 421CA+421AA group than that in the 421CC group P=0.043). The T(1/2) and T(max) values showed no difference between 421CC vs 421CA+421AA
GeneABCG2
FeatueExon/NonSyn
EvidencePubMed ID:16784736
Drugsrosuvastatin
Diseases
Curation LevelCurated


[PMID 20421215] The rs2231142 variant of the ABCG2 gene is associated with uric acid levels and gout among Japanese people

PharmGKBPA162355480
NameABCG2:421C>A, ABCG2:Q141K, rs2231142
AnnotationLung cancer patients carrying the A allele of ABCG2:421C>A were at increased risk for diarrhea but not skin toxicity following oral gefitinib treatment.
GeneABCG2
FeatueExon/NonSyn
EvidencePubMed ID:17148776
Drugsgefitinib
DiseasesCarcinoma, Non-Small-Cell Lung, Diarrhea, Lung Neoplasms
Curation LevelCurated
PharmGKBPA162364098
NameABCG2:421C>A, ABCG2:Q141K, rs2231142
AnnotationThe ABCG2 421C>A genotype significantly affected the pharmacokinetics of diflomotecan in 5 patients heterozygous for this allele.
GeneABCG2
FeatueExon/NonSyn
EvidencePubMed ID:15229462
Drugsdiflomotecan
DiseasesNeoplasms
Curation LevelCurated
PharmGKBPA164740843
Name
AnnotationGWAS results: Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. (Initial Sample Size: 11,847 individuals; Replication Sample Size: 14,867 individuals); (Region: 4q22.1; Reported Gene(s): ABCG2; Risk Allele: rs2231142-?); (p-value= 3E-60).This variant is associated with Serum urate.
GeneABCG2
FeatueExon/NonSyn
EvidencePubMed ID:18834626; Web Resource:http://www.genome.gov/gwastudies/
Drugs
Diseases
Curation LevelNon-Curated
PharmGKBPA164889046
NameABCG2:421C>A
AnnotationA allele is associated with increased rosuvastatin plasma AUC
GeneABCG2
FeatueExon/NonSyn
EvidencePubMed ID:19474787
Drugsrosuvastatin
Diseases
Curation LevelCurated
PharmGKBPA164918226
NameABCG2: Q141K
AnnotationIntroduction of the mutation Q141K in the ABCG2 gene by site-directed mutagenesis resulted in 53% reduced urate transport rates compared to wild-type ABCG2 (P < 0.001). Data of this study indicate that at least 10% of all gout cases in whites are attributable to this causal variant.
GeneABCG2
FeatueExon/NonSyn
EvidencePubMed ID:19506252
Drugs
DiseasesGout
Curation LevelCurated
PharmGKBPA164740885
Name
AnnotationAssociation of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study. (Initial Sample Size: 11,847 individuals; Replication Sample Size: 14,867 individuals); (Region: 4q22.1; Reported Gene: ABCG2; Risk Allele: rs2231142-?) This variant is associated with Serum urate.
GeneABCG2
FeatueExon/NonSyn
EvidencePubMed ID:18834626; Web Resource:http://www.genome.gov/gwastudies/
Drugs
Diseases
Curation LevelNon-Curated
PharmGKBPA165291910
NameABCG2:c.421C>A (Gln141Lys)
AnnotationRisk or phenotype-associated allele: A allele. Phenotype: Greater reduction in LDL-C level. Study size: 305. Study population/ethnicity: Chinese patients with hypercholesterolemia treated with rosuvastatin. Significance metric(s): overall P = 0.0006. Type of association: GN; PD
GeneABCG2
FeatueExon/NonSyn
EvidencePubMed ID:20130569
Drugsrosuvastatin
DiseasesHypercholesterolemia
Curation LevelCurated
PharmGKBPA165109629
NameABCG2:421C>A, ABCG2:Q141K
Annotationstudied allele=A; study size=46 (30 children; 16 adults);PK=significantly lower clearance (-23%) of imatinib and major metabolite in heterozygous versus wild-type homozygous patients when genotype considered with body weight, albuminemia and alpha1-acid glycoprotein covariates; significance= P < 0.05; genotype alone not associated with increased clearance
GeneABCG2
FeatueExon/NonSyn
EvidencePubMed ID:18981009
Drugsimatinib
Diseases
Curation LevelCurated
PharmGKBPA165109682
NameABCG2:421C>A, ABCG2:Q141K
Annotationcontrol size=7; K141 cases=6; PK=in healthy subjects, disposition of lamivudine was not significantly influenced by known functional variants
GeneABCG2
FeatueExon/NonSyn
EvidencePubMed ID:17509035
Drugslamivudine
Diseases
Curation LevelCurated


[PMID 21918980] A comprehensive study of polymorphisms in the ABCB1, ABCC2, ABCG2, NR1I2 genes and lymphoma risk


[PMID 22015057] Single nucleotide polymorphism associations with response and toxic effects in patients with advanced renal-cell carcinoma treated with first-line sunitinib: a multicentre, observational, prospective study

GWAS snp
PMID [PMID 22229870]
Trait
Title Genome-wide association of serum uric Acid concentration: replication of sequence variants in an island population of the Adriatic coast of croatia.
Risk Allele T
P-val 0.000005
Odds Ratio 27.4000 None
Retrieved from "http://www.snpedia.com/index.php/Rs2231142"
Personal tools
Namespaces
Variants
Actions
Navigation
Toolbox