注释ID

1184516913

变量_单倍型

CYP2C19*1, CYP2C19*28

基因

CYP2C19

药物名称(英)

药物名称(中)

PMID

20712527

类型

Other

含义

no

记事

This variant combination was detected in a group of Xhosa volunteers from S. Africa. Dual luciferase assays were used to determine the effect of the promoter region of *28 allele on CYP2C19 gene expression. The *28 allele contained the following 5' upstream SNPs (ss230394406 (T) (-2030C>T), ss230394407 (A) (-2020C>A), rs17878739 (C) (-1439T>C), rs3814637 (T) ( -1418C>T) different from reference. Please note, rs3814637 (T) ( -1418C>T) is not part of the *28 definition. Furthermore, *28 contains 2 variants in the coding region which are different compared to *1, which were not part of the construct labeled *28 in this article. The *28 allele definition also included I331V which is present in many CYP2C19 alleles including *1 suballeles. The CYP2C19*28 5' upstream containing construct showed no significant difference in fold induction when compared to the CYP2C19*1 containing construct.

专家论述

CYP2C19 *28 is not associated with decreased expression of CYP2C19 in HepG2 cells as compared to CYP2C19 *1.

等位基因

*28

专家评论

变体注释摘要

id	研究类型	特征类型
26753		Study Cohort