Effect of Variations on the PNPLA3

Variants are common variations in genes that can significantly impact the health and traits of an individual. This section shows all variants that are located on PNPLA3 as well as their associated conditions, traits and drugs.

Did you know that gene anomalies are relatively common?

On average, each person has approximately 100 to 400 genes that are not normal (with different genes being affected in different people). However, usually, the matching gene on the other chromosome within the pair is normal, which helps prevent any potential negative consequences. In the broader population, the odds of someone having two copies of the same abnormal gene (and hence, a genetic disorder) are very low. However, this probability is higher for children whose parents are closely related by blood.

doctor_quote

Dr. Wallerstorfer

Conditions caused and influenced by PNPLA3

Genetic abnormalities can significantly influence the likelihood of developing a certain condition, either increasing or decreasing the risk. These mutations can alter gene function, which may result in protein malfunction or a lack of protein production. However, even if a genetic mutation increases the risk, it doesn't necessarily mean the condition will develop as environmental and lifestyle factors also play a role.

Did you know the difference between mutations, genetic variations, variants and haplotypes?

Mutations are random changes in the DNA and genetic variations are differences in the DNA among people. Variants are tiny changes in just one piece of the DNA while haplotypes are groups of these changes that usually come together.

doctor_quote

Dr. Wallerstorfer

Traits caused and influenced by PNPLA3

Abnormalities in genes can also have a significant impact on an individual's traits, or physical characteristics. These genetic mutations can affect the way certain traits are expressed by modifying the function of the related genes. However, the manifestation of these traits isn't determined by genetics alone. It's also influenced by a combination of environmental factors and interactions with other genes. Thus, while a gene mutation can potentially influence a trait, it doesn't necessarily dictate its final expression.

Variants located on PNPLA3

A genetic code of a gene usually has many differences in individual genetic letters or tiny pices of the DNA.

Did you know variants may affect drugs?

Variants can influence how our body reacts to certain drugs. The presence of specific variants can increase or decrease the efficiency and effectiveness of a drug, impacting how well it works inside our system. Additionally, certain variants can heighten or lessen the toxicity of a drug, thereby affecting the risk of unwanted side effects. They can also alter how a drug is metabolized, which influences the appropriate dosage one should receive.

doctor_quote

Dr. Wallerstorfer

Pharmacogenetics

Variants can significantly influence how our body processes and reacts to drugs. The presence of specific variants can determine the efficiency and effectiveness of a medication, influencing its performance within our system. Additionally, certain variants can modify the drug's toxicity, thereby affecting the likelihood of unwanted side effects. They can also impact how a drug is metabolized, which in turn determines the ideal dosage one should receive. Every individual's response to medication can vary, largely dictated by their genetic makeup. Variations in genes can influence the functions of enzymes, transporters, receptors, and other proteins that interact with drugs. For example, certain genetic variants can alter an enzyme's function, causing it to metabolize a drug too quickly or too slowly. Such variations can either render a treatment ineffective or heighten the risk of side effects.

rs738409

Drug
Genotype
Level of evidence
Impacts
Summary

CYCLOPHOSPHAMIDE

CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have decreased Side Effects to CYCLOPHOSPHAMIDE.

more info

CYCLOPHOSPHAMIDE

CG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/G have increased Side Effects to CYCLOPHOSPHAMIDE.

more info

CYCLOPHOSPHAMIDE

GG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype G/G have increased Side Effects to CYCLOPHOSPHAMIDE.

more info

DAUNORUBICIN

CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have decreased Side Effects to DAUNORUBICIN.

more info

DAUNORUBICIN

CG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/G have increased Side Effects to DAUNORUBICIN.

more info

DAUNORUBICIN

GG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype G/G have increased Side Effects to DAUNORUBICIN.

more info

PREDNISOLONE

CC

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/C have decreased Side Effects to PREDNISOLONE.

more info

PREDNISOLONE

CG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype C/G have increased Side Effects to PREDNISOLONE.

more info

PREDNISOLONE

GG

Breakdown

Drug Effect

Side Effects

Dosage

Individuals with the genotype G/G have increased Side Effects to PREDNISOLONE.

more info

Legend:

Increased

Decreased

No known effect

rs738409

Drug

CYCLOPHOSPHAMIDE

Genotype
CC
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have decreased Side Effects to CYCLOPHOSPHAMIDE.

More info

Drug

CYCLOPHOSPHAMIDE

Genotype
CG
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/G have increased Side Effects to CYCLOPHOSPHAMIDE.

More info

Drug

CYCLOPHOSPHAMIDE

Genotype
GG
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype G/G have increased Side Effects to CYCLOPHOSPHAMIDE.

More info

Drug

DAUNORUBICIN

Genotype
CC
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have decreased Side Effects to DAUNORUBICIN.

More info

Drug

DAUNORUBICIN

Genotype
CG
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/G have increased Side Effects to DAUNORUBICIN.

More info

Drug

DAUNORUBICIN

Genotype
GG
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype G/G have increased Side Effects to DAUNORUBICIN.

More info

Drug

PREDNISOLONE

Genotype
CC
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/C have decreased Side Effects to PREDNISOLONE.

More info

Drug

PREDNISOLONE

Genotype
CG
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype C/G have increased Side Effects to PREDNISOLONE.

More info

Drug

PREDNISOLONE

Genotype
GG
Level of evidence
Impacts

Breakdown

Drug Effect

Side Effects

Dosage

Summary

Individuals with the genotype G/G have increased Side Effects to PREDNISOLONE.

More info

Legend:

Increased

Decreased

No known effect

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