丙咪嗪,临床注释-2,变异和临床注释数据

id	等位基因	注释文本
1357	*5	The CYP2D65 allele is assigned as a no function allele by CPIC. Patients carrying the 5 allele in combination with a normal, decreased or no function allele may have decreased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype, while patients carrying the 5 allele in combination with an increased function allele with an activity value of 3 or greater may have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Patients carrying the 5 allele in combination with an increased function allele with an activity score of 2 may have similar imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Other genetic and clinical factors may also influence imipramine dose requirements.
1356	*4	The CYP2D64 allele is assigned as a no function allele by CPIC. Patients carrying the 4 allele in combination with a normal, decreased or no function allele may have decreased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype, while patients carrying the 4 allele in combination with an increased function allele with an activity value of 3 or greater may have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Patients carrying the 4 allele in combination with an increased function allele with an activity score of 2 may have similar imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Other genetic and clinical factors may also influence imipramine dose requirements.
1355	*2xN	The CYP2D62xN alleles (2x2 and 2x鈮?) have been assigned as increased function alleles by CPIC. Patients carrying a 2xN allele in combination with a normal or increased function allele or a decreased function allele with an activity value of 0.5 may have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Patients carrying a 2xN allele with an activity value of 3 or greater in combination with a decreased function allele with an activity value of 0.25 or a no function allele may also have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype, while patients carrying a 2xN allele with an activity value of 2 in combination with a decreased function allele with an activity value of 0.25 or a no function allele may have similar imipramine dose requirements as compared to patients with other alleles that result in a normal metabolizer phenotype. Other genetic and clinical factors may also influence imipramine dose requirements.
1354	*1xN	The CYP2D61xN alleles (1x2 and 1x鈮?) have been assigned as increased function alleles by CPIC. Patients carrying a 1xN allele in combination with a normal or increased function allele or a decreased function allele with an activity value of 0.5 may have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Patients carrying a 1xN allele with an activity value of 3 or greater in combination with a decreased function allele with an activity value of 0.25 or a no function allele may also have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype, while patients carrying a 1xN allele with an activity value of 2 in combination with a decreased function allele with an activity value of 0.25 or a no function allele may have similar imipramine dose requirements as compared to patients with other alleles that result in a normal metabolizer phenotype. Other genetic and clinical factors may also influence imipramine dose requirements.
1353	*1	The CYP2D61 allele is assigned as a normal function allele by CPIC. Patients carrying the 1 allele in combination with alleles that result in a normal metabolizer phenotype may have decreased imipramine dose requirements as compared to patients carrying two increased function alleles or an increased function allele in combination with a normal function allele or a decreased function allele with an activity value of 0.5. Patients carrying the *1 allele in combination with alleles that result in a normal metabolizer phenotype may also have decreased imipramine dose requirements as compared to patients carrying an increased function allele with an activity value of 3 or greater in combination with a no function allele or a decreased function allele with an activity value of 0.25 but increased imipramine dose requirements as compared to patients with a no function allele in combination with a decreased or normal function allele or two decreased or no function alleles. Other genetic and clinical factors may also influence imipramine dose requirements.

等位基因

注释文本

The CYP2D6*5 allele is assigned as a no function allele by CPIC. Patients carrying the *5 allele in combination with a normal, decreased or no function allele may have decreased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype, while patients carrying the *5 allele in combination with an increased function allele with an activity value of 3 or greater may have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Patients carrying the *5 allele in combination with an increased function allele with an activity score of 2 may have similar imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Other genetic and clinical factors may also influence imipramine dose requirements.

1356

The CYP2D6*4 allele is assigned as a no function allele by CPIC. Patients carrying the *4 allele in combination with a normal, decreased or no function allele may have decreased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype, while patients carrying the *4 allele in combination with an increased function allele with an activity value of 3 or greater may have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Patients carrying the *4 allele in combination with an increased function allele with an activity score of 2 may have similar imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Other genetic and clinical factors may also influence imipramine dose requirements.

1355

*2xN

The CYP2D6*2xN alleles (*2x2 and *2x鈮?) have been assigned as increased function alleles by CPIC. Patients carrying a *2xN allele in combination with a normal or increased function allele or a decreased function allele with an activity value of 0.5 may have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Patients carrying a *2xN allele with an activity value of 3 or greater in combination with a decreased function allele with an activity value of 0.25 or a no function allele may also have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype, while patients carrying a *2xN allele with an activity value of 2 in combination with a decreased function allele with an activity value of 0.25 or a no function allele may have similar imipramine dose requirements as compared to patients with other alleles that result in a normal metabolizer phenotype. Other genetic and clinical factors may also influence imipramine dose requirements.

1354

*1xN

The CYP2D6*1xN alleles (*1x2 and *1x鈮?) have been assigned as increased function alleles by CPIC. Patients carrying a *1xN allele in combination with a normal or increased function allele or a decreased function allele with an activity value of 0.5 may have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype. Patients carrying a *1xN allele with an activity value of 3 or greater in combination with a decreased function allele with an activity value of 0.25 or a no function allele may also have increased imipramine dose requirements as compared to patients with alleles that result in a normal metabolizer phenotype, while patients carrying a *1xN allele with an activity value of 2 in combination with a decreased function allele with an activity value of 0.25 or a no function allele may have similar imipramine dose requirements as compared to patients with other alleles that result in a normal metabolizer phenotype. Other genetic and clinical factors may also influence imipramine dose requirements.

1353

The CYP2D6*1 allele is assigned as a normal function allele by CPIC. Patients carrying the *1 allele in combination with alleles that result in a normal metabolizer phenotype may have decreased imipramine dose requirements as compared to patients carrying two increased function alleles or an increased function allele in combination with a normal function allele or a decreased function allele with an activity value of 0.5. Patients carrying the *1 allele in combination with alleles that result in a normal metabolizer phenotype may also have decreased imipramine dose requirements as compared to patients carrying an increased function allele with an activity value of 3 or greater in combination with a no function allele or a decreased function allele with an activity value of 0.25 but increased imipramine dose requirements as compared to patients with a no function allele in combination with a decreased or normal function allele or two decreased or no function alleles. Other genetic and clinical factors may also influence imipramine dose requirements.

id	证据的ID	总结
3123	1446902225	CYP2D6 4/4 + 4/5 (assigned as poor metabolizers phenotype) are associated with decreased dose of imipramine in people with Depressive Disorder, Major as compared to CYP2D6 1/1 + 1/2.
3122	1446902201	CYP2D6 1/1xN + 1/2xN (assigned as ultra-metabolizer phenotype phenotype) are associated with increased dose of imipramine in people with Depressive Disorder, Major as compared to CYP2D6 1/1 + 1/2.
3121	1183617426	CYP2D6 4/4 is associated with decreased dose of amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline or Opipramol in people with Depression as compared to CYP2D6 1/1.
3120	1183684386	CYP2D6 poor metabolizers are associated with decreased dose of imipramine in people with Diabetic Neuropathies as compared to CYP2D6 normal metabolizer phenotype.
3119	PA166104972	Annotation of DPWG Guideline for imipramine and CYP2D6
3118	PA166104999	Annotation of CPIC Guideline for imipramine and CYP2C19, CYP2D6

证据的ID

总结

3123

1446902225

CYP2D6 *4/*4 + *4/*5 (assigned as poor metabolizers phenotype) are associated with decreased dose of imipramine in people with Depressive Disorder, Major as compared to CYP2D6 *1/*1 + *1/*2.

3122

1446902201

CYP2D6 *1/*1xN + *1/*2xN (assigned as ultra-metabolizer phenotype phenotype) are associated with increased dose of imipramine in people with Depressive Disorder, Major as compared to CYP2D6 *1/*1 + *1/*2.

3121

1183617426

CYP2D6 *4/*4 is associated with decreased dose of amitriptyline, clomipramine, doxepin, imipramine, maprotiline, nortriptyline or Opipramol in people with Depression as compared to CYP2D6 *1/*1.

3120

1183684386

CYP2D6 poor metabolizers are associated with decreased dose of imipramine in people with Diabetic Neuropathies as compared to CYP2D6 normal metabolizer phenotype.

3119

PA166104972

Annotation of DPWG Guideline for imipramine and CYP2D6

3118

PA166104999

Annotation of CPIC Guideline for imipramine and CYP2C19, CYP2D6

id	类型	评论
1506	Update	Added DPWG guideline as evidence
1505	Update	CA score added as part of scoring system release. LOE assigned following curator review.
1504	Update	Added CPIC guideline and *5 allele to CA. Edited phenotype descriptions.
1503	Create	Created

类型

1506

Update

Added DPWG guideline as evidence

1505

Update

CA score added as part of scoring system release. LOE assigned following curator review.

1504

Update

Added CPIC guideline and *5 allele to CA. Edited phenotype descriptions.

1503

Create