genetic factors in periodontal disease

Question 1

etiology

Answer 1

1) periodontal pathogens
2) disease modifying factors
3) host susceptibility

Question 2

autosome

Answer 2

non sex chromosome

Question 3

allele

Answer 3

one of several forms of a gene

Question 4

locus

Answer 4

location of the gene

Question 5

genome

Answer 5

entire hereditary information of an organism

Question 6

penetrance

Answer 6

1) proportions of individuals who have a allele who express the associated trait

Question 7

genetic polymorphism is

Answer 7

1) a locus in which 2 or more alleles occur in at least 1% of the population

Question 8

mutation

Answer 8

1) changes in the DNA sequence of the genome from errors that occur during DNA replication

Question 9

genotype

Answer 9

genetic makeup

Question 10

phenotype

Answer 10

physical makeup

Question 11

simple genetic disease

Answer 11

mutations of single genes
- autosomal dominant
- autosomal recessive
- x-linked

Question 12

simple genetic diseases

Answer 12

1) sickle cell anemia
2) neurofibromatosis
3) hemophilia
4) papillon lefevre

Question 13

complex genetic disease

Answer 13

1) mild phenotype
2) slowly progressive
3) chronic in nature
4) late onset
5) common

Question 14

periodontitis as a complex genetic disease

Answer 14

1) 10-20 disease modifying genes
2) vary among ethnic groups
3) influenced by environmental factors

Question 15

evidence of genetic susceptibility

Answer 15

1) 81% moderate
2) 8% rapid
3) 11% none

Question 16

other evidence for genetic susceptibility

Answer 16

1) small percentage of subjects account for major percentage of tooth loss in several longitudinal studies
2) high prevalence of pathogenic bacteria found in subjects with gingivitis

Question 17

familial aggregation

Answer 17

1) siblings of young patients with aggressive periodontitis often also suffered from severe periodontal breakdown
2) mode of inheritance
- autosomal dominant
3) 70% penetrance
4) african americans and caucasians

Question 18

michalowicz study

Answer 18

1) twill studies that show 50% of periodontitis can be attributed to genetics

Question 19

genetic disorders associated with aggressive periodontitis

Answer 19

1) papillon lefevre syndrome and cathepsin C gene; AR
2) chediak higashi syndrome
3) ehler danlos
4) cyclic neutropenia
5) leukocyte adhesion deficiency

Question 20

mutation

Answer 20

1) permanent change in DNA sequence
2) alters AA sequence
3) simple genetics diseases, less than 1% of population
4) dramatically affect expression of function of a gene product
5) deterministic of disease

Question 21

genetic polymorphisms

Answer 21

1) different alleles of a given gene co-exist in the human population
2) complex genetic diseases, greater than 1%
3) by itself, no deterministic of disease
4) multiple functional genetic polymorphisms interact with each other and with environmental factors

Question 22

genetic polymorphisms associated with periodontitis

Answer 22

1) most are SNPS
2) linked to immune response
3) most studies show variable and inconclusive correlations

Question 23

possible candidate genes

Answer 23

1) IL-6, IL-10, IL-1
2) TNF alpha
3) fc-gamma
4) TLRs
5) VDRs
6) CD-14

Question 24

genetics tests for periodontitis

Answer 24

1) tests are available for simple mutations
2 )LAD types 1 and 2, PLS, CHS, etc

Question 25

genetic tests for periodontitis cons

Answer 25

1) many genetic polymorphisms
2) none can strongly predict risk of getting periodontitis
3) results vary among ethnic groups

Question 26

interleukin 1 genetic test

Answer 26

1) composite IL-1 genotype is associated with severe chronic periodontitis in nonsmoking N.E. european adults

Question 27

IL-1 test

Answer 27

1) version 1 no risk for periodontitis identified
2) version two used 4 SNPs in IL1B
3 )more use for Caucasians and AA

Question 28

future applications for genetic testing

Answer 28

1) identify subjects who might
- develop periodontitis
- have high recurrent pr refractory periodontitis
- have high risk of tooth loss
2) modify preventive and treatment plans
3) predict treatment outcomes