The genetics of common diseases Flashcards
(51 cards)
What are some common congenital malformations?
- Cleft lip/palate
- Pyloric stenosis
- Neural tube defects
- Congenital heart defects
These conditions can vary significantly in severity and long-term impact.
What role do environmental factors play in congenital malformations?
Environmental factors can cause some congenital malformations
Examples include thalidomide and maternal exposure to retinoic acid.
What is the leading cause of death worldwide?
Heart disease
It accounts for approximately 25% of all deaths in the United States.
What is the most common underlying cause of heart disease?
Coronary artery disease (CAD)
CAD is primarily caused by atherosclerosis.
What are some risk factors for coronary artery disease?
- Obesity
- Cigarette smoking
- Hypertension
- Elevated cholesterol levels
- Positive family history
Family history significantly increases the risk of CAD.
What is familial hypercholesterolemia?
A condition caused by a mutation in the LDL receptor gene, leading to elevated LDL cholesterol levels
It occurs in approximately 1 in 500 persons.
What is the significance of genome-wide association studies (GWAS)?
They are used to identify genes that cause complex diseases
GWAS analyze millions of SNPs across the genome.
What is the mode of inheritance for familial dilated cardiomyopathy?
Autosomal dominant mutations are most common, but mutations can also be X-linked or mitochondrial.
What are the five classes of LDL receptor mutations?
- Class I: No detectable protein product
- Class II: Altered protein that cannot leave the endoplasmic reticulum
- Class III: Capable of migrating but cannot bind LDL
- Class IV: Normal except do not migrate to coated pits
- Class V: Cannot disassociate from LDL after entry
What is the leading cause of stroke?
Arterial obstruction (ischemic stroke).
What is the fourth leading cause of mortality in the United States?
Stroke.
What can increase one’s risk of having a stroke?
Having a parent who has had a stroke.
Name a genetic condition associated with stroke.
Sickle cell disease.
What is the leading cause of cancer deaths in high-income countries?
Tobacco use
It accounts for one-third of all cancer cases.
What is the lifetime risk of developing breast cancer for women?
12%
Breast cancer is the second most commonly diagnosed cancer among women.
Which genes are most important in hereditary breast cancer?
- BRCA1
- BRCA2
- TP53
- CHK2
- PTEN
These genes are involved in DNA repair and predispose women to breast cancer.
What environmental factors increase the risk of developing breast cancer?
- Nulliparity
- Bearing the first child after age 30
- High-fat diet
- Alcohol use
- Estrogen replacement therapy
These factors are associated with increased breast cancer risk.
What is the risk of colorectal cancer for individuals with one affected first-degree relative?
Two to three times higher than the general population
Familial clustering of colorectal cancer has been documented for over a century.
What is the estimated proportion of cancer cases caused by infectious agents?
Approximately 15%
Examples include human papillomavirus for cervical cancer and hepatitis B and C for liver cancer.
What are some environmental risk factors for colorectal cancer?
- Lack of physical activity
- High-fat, low-fiber diet
What is the lifetime risk of developing prostate cancer in the United States?
11%
What increases the risk of developing prostate cancer?
Having an affected first-degree relative increases the risk by a factor of two to three.
What is the leading cause of adult blindness, kidney failure, and lower-limb amputation?
Diabetes mellitus
What are the three major types of diabetes?
- Type 1 Diabetes
- Type 2 Diabetes
- Maturity-Onset Diabetes of the Young (MODY)
