pathpharm 2 week 1 Flashcards
Define Risk factor:
A characteristic, condition, or behavior, such as high blood pressure or smoking, that increases the possibility of disease or injury.
Define Relative risk:
the ratio of the chance of a disease developing among members of a population exposed to a factor compared with a similar population not exposed to the factor.
In many cases relative risk is modified by:
the duration or intensity of exposure to the causative factors
Define Proband:
A person serving as the starting point for the genetic study of a family (used esp. in medicine and psychiatry).
Define Polygenic:
A polygenic trait is one whose phenotype is influenced by more than one gene. Traits that display a continuous distribution, such as height or skin color, are polygenic.
Define Multifactorial:
Involving or dependent on a number of factors or causes.
T or F: In multifactoral gene expression, the loci act in concert in an additive fashion, each adding or detracting a small amount from the phenotype.
TRUE
T or F: The environment plays little part in producing the final phenotype.
FALSE. The environment interacts with the genotype to produce the final phenotype.
Define Liability distribution:
As the number of multifactorial genes for the trait increases, the liability for the disease increases.
Define Threshold of liability:
The point at which a combination of risk factors will result in development of disease (To be affected by a multifactoral disease, a person must have several factors that when added together meet/exceed the disease threshold)
Define Recurrence Risk:
When one child has already been born with a genetic disease the probability that subsequent children will also have the disease
Define empiric risk:
The chance that a disease will occur in a family, based on experience with the diagnosis, past history, and medical records rather than theory.
T or F: In multifactorial traits, the more severely affected the individual, the more genes he/she has to transmit, and the higher the recurrence risk.
TRUE
Define concordant trait (as it relates to twins):
A trait shared by both twins
Define discordant trait as it realtes to twins:
a trait not shared by both twins
Define congenital trait:
Traits/conditions that are present at birth, regardless of their causation.
Nature refers to:
heredity: the genetic makeup or “genotypes” an individual carries from the time of conception to death.
Nurture refers to:
various external or environmental factors to which an individual is exposed from conception to death.
The notion of ___________ refers to the biologically prescribed tendencies and capabilities individuals possess, which may unfold themselves throughout the course of life.
nature
T or F: Environmental factors usually do not involve several dimensions.
FALSE. Environmental factors include both physical environments (e.g., secondhand smoking and prenatal nutrition) and social environments (e.g., the media and peer pressure). They vary in their immediacy to the individual; they involve multiple layers of forces, ranging from most immediate (e.g., families, friends, and neighborhoods) to larger contexts (e.g., school systems and local governments) to macro factors (e.g., international politics and global warming).
List 5 environments that can cause disease:
Pesticides, chemicals, radiation, air pollution, and water pollution
List environmental factors for CAD:
Cigarette smoking, obesity/sedentary lifestyle, Infections from Chlamydia and H. Pylori
Familial hypercholesterolemia is an important cause of:
heart disease
The risk of colorectal cancer in people with one affected first-degree relative is:
2-3 times higher than in the general population
A person with at least one affected first degree relative is _____ times more likely to have CAD than the general population.
2 to 7
What 3 specific factors put a person at a higher familial risk of developing CAD?
- there are more than one affected relative, 2. the affected relative(s) is female (the less affected sex) 3. age of onset in the affected relative(s) is early
_____________________ Results in plasma cholesterol levels that are approx. twice as high as normal and is inherited as an autosomal dominant trait
Familial Hypercholesterolemia
Hypertension has a familial component because:
about 20%-40% of the variation in systolic and diastolic pressure is caused by genetic factors
Increased sodium intake, decreased physical activity, psychosocial stress, and obesity are the main environmental risk factors for:
hypertension
If a woman has one affected first-degree relative her risk of developing breast cancer ________.
doubles
T or F: A woman’s risk for breast cancer increases if the age of onset in her affected relative is early and if the cancer is bilateral (both breasts)
TRUE
T or F: Some types of colorectal cancer are inherited as single-gene traits
TRUE
A high fat/low fiber diet is said to increase a person’s risk of developing____________
colorectal cancer
Siblings of affected individuals with diabetes have a substantial (elevation/lowering) in risk
Elevation (6% vs 0.3% in the general population)
Recurrence risk is elevated for type I diabetes when:
there is a diabetic parent (1%-3% for a diabetic mother and 4%-6% for a diabetic father)
T or F: Specific viral infections can contribute to Type I diabetes by activating an autoimmune response
TRUE
The two most important risk factors for type II diabetes are:
positive family history and obesity
The empirical recurrence risks for first-degree relatives of type 2 diabetes range from:
10%-15%
T or F: Adoption studies show that adopted children’s BMI more closely resembles their adoptive parents than their biological parents
FALSE. Adopted children’s BMI more closely resembled that of their biological parents regardless of environmental factors
T or F: There is a strong correlation between parents and children’s BMI’s
TRUE
