Annotation of rs316019

Genotype CC is associated with increased clearance of l-tryptophan as compared to genotypes AA + AC.

A gene dose effect was observed in that clearance of tryptophan decreased in the following manner: CC>AC>AA.

From Publication

Pharmacogenetics meets metabolomics: discovery of tryptophan as a new endogenous OCT2 substrate related to metformin disposition. PloS one. 2012. Song Im-Sook et al.
PMID:22590580(opens in new window) PMCID:PMC3348126(opens in new window) DOI:10.1371/journal.pone.0036637(opens in new window)

Gene

SLC22A2

Variant

rs316019

Phenotype Category

Metabolism/PK

Association Significance

The study reports this association is significant

PharmGKB ID

982046569

Score
More info on scoring

1.5

Evidence for Clinical Annotations

This annotation has been used as evidence for the following clinical annotations.

  1. Clinical Annotation for rs316019 (SLC22A2); l-tryptophan (level 3)

Study Parameters

Study type

cohort

Study size

21

Association p-value

= 8.6E-4

Allele frequency

A=0.429

Note: Alleles in PharmGKB are mapped to the positive chromosomal strand. Therefore, variants in genes on the "minus" strand (eg. VKORC1) are complemented in PharmGKB annotations.

History

No history available.