Genes

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Why Does My Patient Have These Results?

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Click below to learn more about specific genes being returned to patients who have been genotyped through the Colorado Center for Personalized Medicine biobank laboratory.

The ABCG2 gene encodes for the ABCG2 transporter protein. Genetic variation in the ABCG2 gene impacts the ability of the ABCG2 protein to transport certain medicines.

Genetic variation in the ACBG2 gene will place patients into 1 of 3 groups:

Normal function: People in this group are likely to have normal working ABCG2 proteins.
Decreased function: People in this group likely have reduced function of ABCG2 proteins.
Poor function: People in this group likely have very little or no active ABCG2 proteins.

The only medicine currently impacted by ABCG2 genetic variation is:

Rosuvastatin

The CYP2C cluster gene encodes for the cytochrome p450 enzyme CYP2C cluster. Genetic variation in the CYP2C cluster gene impacts the ability of the CYP2C cluster enzyme to metabolize certain medicines.

Genetic variation in the CYP2C cluster gene will place patients into 1 of 3 groups:

Normal function: People in this group are likely to have normal working CYP2C cluster proteins.
Intermediate function: People in this group likely have reduced activity of CYP2C cluster proteins.
Poor function: People in this group likely have very little or no active CYP2C cluster protein.

The only medicine significantly impacted by CYP2C cluster genetic variation is warfarin.

The CYP2C9 gene encodes for the cytochrome p450 enzyme CYP2C9. Genetic variation in the CYP2C9 gene impacts the ability of the CYP2C9 enzyme to metabolize certain medicines.

Genetic variation in the CYP2C9 gene will place patients into 1 of 3 groups:

Normal metabolizer: People in this group are likely to have normal working CYP2C9 proteins.
Intermediate metabolizer: People in this group likely have reduced activity of CYP2C9 proteins.
Poor metabolizer: People in this group likely have very little or no active CYP2C9 protein.

The medicines impacted by CYP2C9 genetic variation are:

The CYP2C19 gene encodes for the cytochrome p450 enzyme CYP2C19. Genetic variation in the CYP2C19 gene impacts the ability of the CYP2C19 enzyme to metabolize certain medicines.

Genetic variation in the CYP2C9 gene will place patients into 1 of 5 groups:

Normal metabolizer: People in this group are likely to have normal working CYP2C19 proteins.
Intermediate metabolizer: People in this group likely have reduced activity of CYP2C19 proteins.
Poor metabolizer: People in this group likely have very little or no active CYP2C19 proteins.
Rapid metabolizer: People in this group likely have high activity of CYP2C19 proteins.
Ultrarapid metabolizer: People in this group likely have very high activity of CYP2C19 proteins.

The medicines impacted by CYP2C19 genetic variation are:

The CYP2D6 gene encodes for the cytochrome p450 enzyme CYP2D6. Genetic variation in the CYP2D6 gene impacts the ability of the CYP2D6 enzyme to metabolize certain medicines.

Genetic variation in the CYP2D6 gene will place patients into 1 of 4 groups:

Normal metabolizer: People in this group are likely to have normal working CYP2D6 proteins.
Intermediate metabolizer: People in this group likely have reduced activity of CYP2D6 proteins.
Poor metabolizer: People in this group likely have very little or no active CYP2D6 proteins.
Ultrarapid metabolizer: People in this group likely have increased activity of CYP2D6 proteins.

The medicines impacted by CYP2D6 genetic variation are:

The CYP3A5 gene encodes for the cytochrome p450 enzyme CYP3A5. Genetic variation in the CYP3A5 gene impacts the ability of the CYP3A5 enzyme to metabolize certain medicines.

Genetic variation in the CYP3A5 gene will place patients into 1 of 3 groups:

Normal metabolizer: People in this group are likely to have normal working CYP3A5 proteins.
Intermediate metabolizer: People in this group likely have reduced activity of CYP3A5 proteins.
Poor metabolizer: People in this group likely have very little or no active CYP3A5 protein.

The only medicine significantly impacted by CYP3A5 genetic variation is tacrolimus.

The CYP4F2 gene encodes for the cytochrome p450 enzyme CYP4F2. Genetic variation in the CYP4F2 gene impacts the ability of the CYP4F2 enzyme to metabolize certain medicines.

Genetic variation in the CYP4F2 gene will place patients into 1 of 3 groups:

Normal function: People in this group are likely to have normal working CYP4F2 proteins.
Intermediate function: People in this group likely have reduced activity of CYP4F2 proteins.
Poor function: People in this group likely have very little or no active CYP4F2 protein.

The only medicine significantly impacted by CYP4F2 genetic variation is warfarin.

The DPYD gene encodes for the DPD liver enzyme. Genetic variation in the DPYD gene impacts the ability of the DPD enzyme to metabolize certain medicines.

Genetic variation in the DPYD gene will place patients into 1 of 3 groups:

Normal metabolizer: People in this group are likely to have normal working DPD proteins.
Intermediate metabolizer: People in this group likely have reduced function of DPD proteins.
Poor metabolizer: People in this group likely have very little or no active DPD proteins.

The medicines impacted by DPYD genetic variation are:

Fluoropyrimidines (Capecitabine and Fluorouracil)

The NUDT15 gene encodes for the NUDT15 liver enzyme. Genetic variation in the NUDT15 gene impacts the ability of the NUDT15 enzyme to metabolize certain medicines.

Genetic variation in the NUDT15 gene will place patients into 1 of 3 groups:

Normal metabolizer: People in this group are likely to have normal working NUDT15 proteins.
Intermediate metabolizer: People in this group likely have reduced activity of NUDT15 proteins.
Poor metabolizer: People in this group likely have very little or no active NUDT15 proteins.

The medicines impacted by NUDT15 genetic variation are:

Thiopurines (Azathioprine, 6-Mercaptopurine (6MP), and Thioguanine)

The SLCO1B1 gene encodes for the SLCO1B1 transporter protein. Genetic variation in the SLCO1B1 gene impacts the ability of the SLCO1B1 protein to transport certain medicines.

Genetic variation in the SLCO1B1 gene will place patients into 1 of 3 groups:

Normal function: People in this group are likely to have normal working SLCO1B1 proteins.
Decreased function: People in this group likely have reduced function of SLCO1B1 proteins.
Poor function: People in this group likely have very little or no active SLCO1B1 proteins.

The medicines impacted by SLCO1B1 genetic variation are:

Statins

The TPMT gene encodes for the TPMT liver enzyme. Genetic variation in the TPMT gene impacts the ability of the TPMT enzyme to metabolize certain medicines.

Genetic variation in the TPMT gene will place patients into 1 of 3 groups:

Normal metabolizer: People in this group are likely to have normal working TPMTproteins.
Intermediate metabolizer: People in this group likely have reduced activity of TPMT proteins.
Poor metabolizer: People in this group likely have very little or no active TPMT proteins.

The medicines impacted by TPMT genetic variation are:

Thiopurines (Azathioprine, 6-Mercaptopurine (6MP), and Thioguanine)

The UGT1A1 gene encodes for the UGT1A1 liver enzyme. Genetic variation in the UGT1A1 gene impacts the ability of the UGT1A1 enzyme to metabolize certain medicines.

Genetic variation in the UGT1A1 gene will place patients into 1 of 3 groups:

Normal metabolizer: People in this group are likely to have normal working UGT1A1 proteins.
Intermediate metabolizer: People in this group likely have reduced activity of UGT1A1 proteins.
Poor metabolizer: People in this group likely have very little or no active UGT1A1 proteins.

The only medicine currently impacted by UGT1A1 genetic variation is:

Irinotecan

The VKORC1 gene encodes for the synthesis of a Vitamin K epoxide reductase enzyme. Genetic variation in the VKORC1 gene impacts the ability of the VKORC1 enzyme to process certain medicines.

Genetic variation in the VKORC1 gene will place patients into 1 of 3 groups:

Normal function: People in this group are likely to have normal working VKORC1 proteins.
Intermediate function: People in this group likely have reduced activity of VKORC1 proteins.
Poor function: People in this group likely have very little or no active VKORC1 protein.

The only medicine significantly impacted by VKORC1 genetic variation is warfarin.

Webpage updated as of: 1/30/2024

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Colorado Center for Personalized Medicine (CCPM) Biobank Research Study

15-0461 PI: Casey Greene, PhD: Director, CCPM; Professor and Chair, Department of Biomedical Informatics

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Genes

Click below to learn more about specific genes being returned to patients who have been genotyped through the Colorado Center for Personalized Medicine biobank laboratory.

Colorado Center for Personalized Medicine

Genes

Click below to learn more about specific genes being returned to patients who have been genotyped through the Colorado Center for Personalized Medicine biobank laboratory.

ABCG2

CYP2C Cluster

CYP2C9

CYP2C19

CYP2D6

CYP3A5

CYP4F2

DPYD

NUDT15

SLCO1B1

TPMT

UGT1A1

VKORC1

Colorado Center for Personalized Medicine