Genetic polymorphism, also known as genetic polymorphism, refers to the coexistence of two or more variant genotypes or alleles within a population of organisms. Human genetic polymorphisms are crucial for elucidating human susceptibility to disease, tolerance to toxicants, differences in drug metabolism, and the molecular mechanisms underlying inherited diseases. Polymorphic sites linked to pathogenic genes can serve as diagnostic markers for genetic diseases and provide a basis for isolating and cloning pathogenic genes. Correlation analysis between diseases of unknown etiology and candidate gene polymorphisms can aid in the screening of disease-causing susceptibility genes.

Introduction

    Other Reference standards include the following genes:

1.CYP3A5

2.SLCO1B1 and ApoE

3.CYP2D6

Tamoxifen is equivalent to a weak estrogen. It can bind to the estrogen receptor in the body and has a selective binding effect, thereby exerting an anti-estrogen effect. After being biotransformed by cytochrome CYP2D6, the metabolites 4-hydroxytamoxifen (4HT) and 4-hydroxy-N-desmethyltamoxifen (endoroxifen).

4.UGT1A1

Irinotecan is an anticancer drug whose main mechanism is to interfere with DNA replication and transcription. It has a strong ability to kill tumor cell activity and has been widely used in the treatment of malignant tumors such as gastric cancer, colorectal cancer, and lung cancer.

5.CYP4F2

CYP4F2 is a vitamin K monooxygenase. CYP4F2*3 can lead to reduced enzyme activity. Wild-type homozygous individuals have the highest metabolic activity, followed by CYP4F2*3 heterozygotes, and CYP4F2*3 homozygotes have the lowest activity. The decreased enzyme activity in CYP4F2*3 homozygous individuals leads to increased vitamin K concentrations, which enhances the anticoagulant effect of warfarin. Clinical studies suggest that CYP4F2*3 polymorphism is associated with the steady-state dose of warfarin.

6.ADRB1

The detection of hypertension medication-related genes CYP2D6, cytochrome CYP2C9, β1 adrenergic receptor ADRB1, angiotensin II type 1 receptor AGTR1, and angiotensin converting enzyme ACE is included in the molecular biological test items of medication guidance. The most common SNP of the ADRB1 gene in East Asian populations is the c.1165 G>C mutation, accounting for 67.9%.

7.PNPLA3

PNPLA3 encodes a protein with lipase and acyltransferase activities, and its variant p.I148M (rs738409) reduces the transfer of polyunsaturated fatty acids (PUFA) to phosphatidylcholine (PC), thereby increasing the polyunsaturated fatty acid content of triglycerides (TG) and diacylglycerol (DAG), affecting liver lipid composition, while impairing phosphatidylcholine synthesis and hindering lipid droplet hydrolysis. Studies have found that carriers of the rs738409 G allele are prone to fatty degeneration, fibrosis, and hepatocellular carcinoma (HCC).