|(A;C)||2.1||1.74x increased gout risk; gefinitib takers 4x more susceptible to diarrhea|
|?||(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: 23andMe blog gout
[PMID 19503597] Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations
|Desc||URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 3; UAQTL3|
[PMID 19890391] Common polymorphisms influencing serum uric Acid levels contribute to susceptibility to gout, but not to coronary artery disease
[PMID 20421215] The rs2231142 variant of the ABCG2 gene is associated with uric acid levels and gout among Japanese people
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|Title||Genome-wide association of serum uric Acid concentration: replication of sequence variants in an island population of the Adriatic coast of croatia.|
|Odds Ratio||27.4000 None|
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|Odds Ratio||.22 [0.20-0.23] mg/dl increase|
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|Title||Identification of low-frequency variants associated with gout and serum uric acid levels.|
|Odds Ratio||1.67 [1.43-1.92]|
|Disease||Uric acid concentration Blood group rosuvastatin response - Efficacy allopurinol response - Efficacy Ovarian Neoplasms|
|CLNDBN||Uric acid concentration, serum, quantitative trait locus 1 Blood group, Junior system rosuvastatin response - Efficacy allopurinol response - Efficacy Ovarian Neoplasms|
|CLNSRC||OMIM Allelic Variant PharmGKB Clinical Annotation UniProtKB (protein)|
|CLNACC||RCV000023341.2, RCV000023342.2, RCV000211355.1, RCV000417178.1, RCV000419593.1,|
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