Disease Molecular Diagnosis

ApoE

The ApoE (Apolipoprotein E) gene is involved in the transport and metabolism of lipids and is a protein that helps the regeneration of nerve tissue and the activation of various lipolytic enzymes. It can predict the possibility of Alzheimer's by genotype of ApoE.
In the ApoE gene, three alleles of E2, E3, and E4 are paired to represent six gene combinations, and depending on this genotype, high-risk group (E4/E4), medium-risk group (E2/E4 or E3/E4), low-risk group ( E2/E3 or E3/E3 or E2/E2). In particular, the E4 genotype has a high affinity for beta-amyloid (Aβ), which leads to excessive deposition of Aβ in the cerebrum, and is highly likely to cause dementia.
Dementia genetic testing is a test that can be used as an index to predict the possibility of dementia due to genetic factors.

MTHFR

Cardiovascular disease (arteriosclerosis, heart disease, high blood pressure, etc.) is a representative adult disease caused by various complex causes such as obesity, diabetes, stress and wrong diet.
MTHFR (Methylenterahydrofolate reductase) gene is involved in homocysteine ​​metabolism, and certain mutations in this gene are known to cause cardiovascular disease by altering homocysteine ​​levels.
According to the genotype of the MTHFR gene, A677V is divided into normal type (CC), mutant type (TT, TC), and E1298A type is divided into normal type (AA) and mutant type (CC, AC). It is known that there is a high possibility of causing arteriosclerosis, myocardial infarction, and venous thrombosis.
In particular, it is reported that the comparative risk is up to 25 times higher in the presence of other risk factors such as smoking, high blood pressure, and cholesterol.

TGFBI(βigh3)

It is known that there are more than 40,000 heterozygotes among the Bigh-3 corneal dystrophy gene mutations in Korea. Among the corneal dystrophy gene mutations, heterozygous individuals with Avellino keratopathy appear with white spots on the cornea starting at about 12 years of age. As the number and size of white spots increase, it is known that symptoms such as decreased visual acuity, glare, and decreased brightness contrast.
Therefore, if you are considering ophthalmic surgery, it is very important to prevent it through Avellino's corneal dystrophy test.

• Homozygous: A person who has both of the genes for Avellino's corneal dystrophy. Symptoms begin to appear at about 3 years of age and lead to blindness at about 6 years of age.
• Heterozygous: A person who has all the Avellino corneal dystrophy genes in only one of a pair of genes In the end, it leads to blindness.

HLA-DQ2

Celiac Disease is a food-sensitive bowel disease that worsens with sensitivity to gluten, which inhibits the absorption of nutrients in the small intestine. The cause of the disease is contained in grains (wheat, barley, rye, oats, etc.) It is produced by a protein called gluten.
In particular, people with problems with gluten digestion induce an immune response in the gastrointestinal tract, causing inflammation in the mucosal cells of the digestive tract, and damage the villi, making it difficult to absorb nutrients, causing various symptoms and side effects. do.
Celiac disease symptoms appear when gluten is ingested to infants early or after they reach growth/adulthood, so genetic testing can be used to predict the likelihood of celiac disease and use it as an indicator of lifestyle.
Celiac disease is caused by a combination of genes and environmental factors, but in particular, more than 90% of people with the DQA1*0501/0505 and DQB1*0201/0201 genes located on chromosome 6, and less than 10% of the DQB1*0302 genes. It has been shown to occur in patients with celiac disease.
Celiac disease is either unaware of or has mild symptoms, so it is mistaken for a disorder of another digestive system. In infants, indigestion and loss of appetite begin to appear, and various symptoms such as sexual retardation may appear. It is a test to find genetic risk factors early because they can appear as type 1 diabetes and thyroid disease.