Role of genetics in
the etiology of
malocclusion

www.indiandentalacademy.com
INDIAN DENTAL ACADEMY
Leader in continuing dental education

www.indiandentalacademy.com

www.indiandentalacademy.com
Introduction
The relative influence of genetics
and environmental factors in the
etiology of malocclusion has been a
matte...
Genetic mechanisms are clearly
predominant – embryo, but
environment is also thought to
influence dento facial morphology ...
Our ability to do this is limited by
our lack of knowledge on the genetic
mechanisms, that control growth and
lack of scie...
Basic terminologies
Genotype – The genetic make up of
an organism.
Phenotype – The external visible
appearance of an organ...
Homozygote – Individual carrying
identical genes for a particular
character ( HH / hh )
Heterozygote – Individual carrying...
Dominant – If a trait or disease
manifests itself when the affected
person carries only one copy of the
gene responsible, ...
Complementary genes – Two or more
dominant genes interact with one another to
produce a character ; but one cannot produce...
Pleiotropism – The production of
many characters by a single pair of
genes.
Polygenes – Two or more non
allelic genes cont...
Sex linked gene – The genes
controlling body characters located on
the sex chromosomes. Most are
recessive.
Continuous var...
Twin studies
Why were they carried out ?
Concordant and Discordant twins?

www.indiandentalacademy.com
Twins
1. Identical Twins Similar character
Single zygote
2. Fraternal Twins Different genotype
Dizygotic
3. Siamese Twins ...
The frequency of MZ twins – 3.5 – 4
per thousand
DZ twins – 3.5 – 18 per thousand
DZ & not MZ twinning –
genetically deter...
Determination of zygosity
The oldest way – Facial appearance
Based on hair colour & type, ear
form, tongue roll &
phenylth...
To determine zygosity at birth;
Sex
Placental morphometry
Protein enzyme analysis
Histocompatability tests.
www.indiandent...
For single gene trait – Monozygotic
concordance rate – 100 %. For DZ twins
- < this & equal to that in siblings.
For multi...
In cleft studies ;
MZ - Concordance rate CL – 35%, CP – 26%
DZ ; CL – 5%, CP – 6%
What does this indicate ?
www.indiandent...
Population genetics
It tries to identify the genetic
component of disease, its mode of
inheritance and its distribution am...
Penetrance – The percentage of
individuals expressing the character for
a particular genotype ( complete /
incomplete ).
E...
Class II div 1 Malocclusion

Investigations – Mand is
significantly retruded & overall mand
length reduced. Higher correla...
Class II div 2
Markovic – 1992 -48 twin pairs
MZ – 100% concordance rate.
DZ – 90% were discordant.
This is a strong evide...
Class III
Famous example –Hapsburg jaw.
Strohmayer – 1937 – autosomal
dominant trait.
Schulze & Weize –concordance rate
in...
A wide range of environmental
factors –
Enlarged tonsils
Nasal blockage
Congenital anatomic defects
Hormonal disturbances
...
Influence on tooth no & size
Osborne et al – 1958 – twin studies
– crown dimensions – heredity
Clinical evidence – congeni...
Super numerary tooth
Most frequently seen –
premaxillary region – male predilection
They are most commonly seen in
parents...
Hypodontia
Study of children with missing
teeth – half of their siblings & parents
also had missing teeth.
Markovic – 1982...
Abnormal tooth shape
Alvesalo & Portin – 1969 – missing
and malformed laterals – common gene
defect.
Peg shaped to missing...
Ectopic maxillary canines
Various studies – genetic tendency.
Peck – 1994 – concluded palatally
ectopic canines were an in...
Submerged primary molars
Most often in mand arch.
Siblings– likely to be affected in
18% of cases, high concordance in MZ
...
The clinical significance of the
inheritance of certain dental anomalies
is that clinicians should be vigilant in
the expe...
In clinical orthodontics it must be
appreciated that each maloccusion
occupies its own distinctive slot in the
genetic/env...
The greater the genetic component,
the worse the prognosis for a successful
outcome by means of orthodontic
intervention. ...
Recent advances …….

www.indiandentalacademy.com
Homeobox genes
Are known to play a role in
patterning the embryonic development.
These can be regarded as master
genes of ...
Of particular interest – Hox group,
Msx 1 & Msx 2, Dlx (distaless),
Otx(orthodontical), Shh(sonic
hedgehog).
The proteins ...
Molecular genetics in
dental development.
Mesenchymal molecules and their
receptors – mediators. Bone morpho
genetic prote...
Msx 1 & Msx 2 - mesenchymal
interactions – initiation, developmental
position (Msx1) & further development
(Msx2).
Pax 9 –...
Amelogenesis imperfecta
Genetically heterogenous disorder.
Two amelogenes – AMGX &
AMGY.
It is likely that mutations in se...
Conclusion
While phenotype is inevitably the
result of both genetic & environmental
factors, there is irrefutable evidence...
The influence of genetics however
varies according to the trait under
consideration and in general remains
poorly understo...
The fight between
genetics and
environment as a
causative factor
continues…….
www.indiandentalacademy.com
Thank you !!!
www.indiandentalacademy.com
Leader in continuing dental education

www.indiandentalacademy.com
Upcoming SlideShare
Loading in...5
×

Genetics and malocclusion /certified fixed orthodontic courses by Indian dental academy

654

Published on

Published in: Technology
0 Comments
0 Likes
Statistics
Notes
  • Be the first to comment

  • Be the first to like this

No Downloads
Views
Total Views
654
On Slideshare
0
From Embeds
0
Number of Embeds
0
Actions
Shares
0
Downloads
25
Comments
0
Likes
0
Embeds 0
No embeds

No notes for slide

Genetics and malocclusion /certified fixed orthodontic courses by Indian dental academy

  1. 1. Role of genetics in the etiology of malocclusion www.indiandentalacademy.com
  2. 2. INDIAN DENTAL ACADEMY Leader in continuing dental education www.indiandentalacademy.com www.indiandentalacademy.com
  3. 3. Introduction The relative influence of genetics and environmental factors in the etiology of malocclusion has been a matter of discussion, debate & controversy in the orthodontic literature. www.indiandentalacademy.com
  4. 4. Genetic mechanisms are clearly predominant – embryo, but environment is also thought to influence dento facial morphology post natally. The key to determination of etiology of malocclusion & its treatibility lies in the ability to differentiate the effect of genes & environment in the cranio facial skeleton in a particular individual. www.indiandentalacademy.com
  5. 5. Our ability to do this is limited by our lack of knowledge on the genetic mechanisms, that control growth and lack of scientific evidence for the influence of environmental factors on human cranio facial morphogenesis. www.indiandentalacademy.com
  6. 6. Basic terminologies Genotype – The genetic make up of an organism. Phenotype – The external visible appearance of an organism. Alleles/Allelomorphs – A pair of genes controlling the same character and located at the same locus in the homologous chromosomes. www.indiandentalacademy.com
  7. 7. Homozygote – Individual carrying identical genes for a particular character ( HH / hh ) Heterozygote – Individual carrying non identical genes for a particular character ( Hh ) www.indiandentalacademy.com
  8. 8. Dominant – If a trait or disease manifests itself when the affected person carries only one copy of the gene responsible, along with one normal allele –dominant ( Dd ) Recessive – If two copies of the defective gene are required for expression of the trait – recessive ( ee ) www.indiandentalacademy.com
  9. 9. Complementary genes – Two or more dominant genes interact with one another to produce a character ; but one cannot produce the character in the absence of the other. Supplementary genes – Two independent pair of dominant genes, which interact in such a way that each dominant gene produces its effect when the other is not present. When the two join - ? www.indiandentalacademy.com
  10. 10. Pleiotropism – The production of many characters by a single pair of genes. Polygenes – Two or more non allelic genes controlling single quantitative character ( skin ) in a cumulative fashion. Genic interaction – Expression of a character by interaction of more than one pair of genes-Allelic or Non Allelic www.indiandentalacademy.com
  11. 11. Sex linked gene – The genes controlling body characters located on the sex chromosomes. Most are recessive. Continuous variation – One that is not separable into discrete classes. Determined by multi genic inheritance. Discontinuous variation – Discrete classes are easily recognized. www.indiandentalacademy.com
  12. 12. Twin studies Why were they carried out ? Concordant and Discordant twins? www.indiandentalacademy.com
  13. 13. Twins 1. Identical Twins Similar character Single zygote 2. Fraternal Twins Different genotype Dizygotic 3. Siamese Twins First time in Siam Monozygotic Physically joined www.indiandentalacademy.com
  14. 14. The frequency of MZ twins – 3.5 – 4 per thousand DZ twins – 3.5 – 18 per thousand DZ & not MZ twinning – genetically determined. Inheritance of DZ twinning – confined to the female line www.indiandentalacademy.com
  15. 15. Determination of zygosity The oldest way – Facial appearance Based on hair colour & type, ear form, tongue roll & phenylthiocarbamide sensitivity. Tests on facial similarity & hematological investigations usually agreed. www.indiandentalacademy.com
  16. 16. To determine zygosity at birth; Sex Placental morphometry Protein enzyme analysis Histocompatability tests. www.indiandentalacademy.com
  17. 17. For single gene trait – Monozygotic concordance rate – 100 %. For DZ twins - < this & equal to that in siblings. For multifactorial traits – Rate in MZ twins although less than 100% exceeds rate in DZ twins. www.indiandentalacademy.com
  18. 18. In cleft studies ; MZ - Concordance rate CL – 35%, CP – 26% DZ ; CL – 5%, CP – 6% What does this indicate ? www.indiandentalacademy.com
  19. 19. Population genetics It tries to identify the genetic component of disease, its mode of inheritance and its distribution among a population. It enables the study of genetic linkage (?) & association (?) www.indiandentalacademy.com
  20. 20. Penetrance – The percentage of individuals expressing the character for a particular genotype ( complete / incomplete ). Expressivity – The variation in degree of expression of a particular gene ( partial & zero expressivity ). www.indiandentalacademy.com
  21. 21. Class II div 1 Malocclusion Investigations – Mand is significantly retruded & overall mand length reduced. Higher correlation b/w patient & immediate family members. Environmental factors ; Soft tissue – L incisor. Digit sucking. Lip incompetence. www.indiandentalacademy.com
  22. 22. Class II div 2 Markovic – 1992 -48 twin pairs MZ – 100% concordance rate. DZ – 90% were discordant. This is a strong evidence to quote genetics as a main etiologic factor . www.indiandentalacademy.com
  23. 23. Class III Famous example –Hapsburg jaw. Strohmayer – 1937 – autosomal dominant trait. Schulze & Weize –concordance rate in MZ twins 6 times higher than DZ . Polygenic hypothesis as the primary cause of mand prognathism. www.indiandentalacademy.com
  24. 24. A wide range of environmental factors – Enlarged tonsils Nasal blockage Congenital anatomic defects Hormonal disturbances Posture etc www.indiandentalacademy.com
  25. 25. Influence on tooth no & size Osborne et al – 1958 – twin studies – crown dimensions – heredity Clinical evidence – congenital absence & tooth size reduction – explanation? Tooth size fits the polygenic multi factorial trait. www.indiandentalacademy.com
  26. 26. Super numerary tooth Most frequently seen – premaxillary region – male predilection They are most commonly seen in parents & siblings of patients. Sugaku – 1963 – multi factorial. www.indiandentalacademy.com
  27. 27. Hypodontia Study of children with missing teeth – half of their siblings & parents also had missing teeth. Markovic – 1982 – high rate of concordance for MZ, while DZ were discordant. Single autosomal dominant gene with incomplete penetrance. www.indiandentalacademy.com
  28. 28. Abnormal tooth shape Alvesalo & Portin – 1969 – missing and malformed laterals – common gene defect. Peg shaped to missing teeth – familial trends, female preponderance & association with other dental anomalies – misssing teeth, ectopic canines, transposition – polygenic. www.indiandentalacademy.com
  29. 29. Ectopic maxillary canines Various studies – genetic tendency. Peck – 1994 – concluded palatally ectopic canines were an inherited trait. www.indiandentalacademy.com
  30. 30. Submerged primary molars Most often in mand arch. Siblings– likely to be affected in 18% of cases, high concordance in MZ twins – indicating a genetic component. Associated with other anamolies – may encompass diff manifestation of same syndrome – incomplete penetrance & variable expressivity www.indiandentalacademy.com
  31. 31. The clinical significance of the inheritance of certain dental anomalies is that clinicians should be vigilant in the expectation that clinical or radiographic evidence of one anomaly should alert them to the possibility of other defects in the same individual or other family members. www.indiandentalacademy.com
  32. 32. In clinical orthodontics it must be appreciated that each maloccusion occupies its own distinctive slot in the genetic/environmental spectrum and therefore the diagnostic goal is to determine the relative contribution of genetics and environment www.indiandentalacademy.com
  33. 33. The greater the genetic component, the worse the prognosis for a successful outcome by means of orthodontic intervention. If dento facial structure & malocclusion are primarily genetic e.g. severe mand prognathism or endogenous tongue thrust, then treatment wll either be palliative or surgical www.indiandentalacademy.com
  34. 34. Recent advances ……. www.indiandentalacademy.com
  35. 35. Homeobox genes Are known to play a role in patterning the embryonic development. These can be regarded as master genes of the head and face controlling patterning, induction, programmed cell death & epithelial mesenchymal interaction during development. www.indiandentalacademy.com
  36. 36. Of particular interest – Hox group, Msx 1 & Msx 2, Dlx (distaless), Otx(orthodontical), Shh(sonic hedgehog). The proteins encoded – transcription factors (?) At cellular level – The growth factor family, the steroid/thyroid/retinoic acid super family. www.indiandentalacademy.com
  37. 37. Molecular genetics in dental development. Mesenchymal molecules and their receptors – mediators. Bone morpho genetic proteins BMP2, 4 & 7 mRNAs shift. Tooth development and shape is regulated by FGF 8 & FGF 9 via downstream factors MSX 1 & PAX 9. www.indiandentalacademy.com
  38. 38. Msx 1 & Msx 2 - mesenchymal interactions – initiation, developmental position (Msx1) & further development (Msx2). Pax 9 – tooth morphogenesis. BMPs – growth factor family ( BMP 5 – endochondral osteogenesis, BMP 7 – dentinogenesis ) www.indiandentalacademy.com
  39. 39. Amelogenesis imperfecta Genetically heterogenous disorder. Two amelogenes – AMGX & AMGY. It is likely that mutations in several genes may be involved in the etiology of diff forms of autosomally inherited AI www.indiandentalacademy.com
  40. 40. Conclusion While phenotype is inevitably the result of both genetic & environmental factors, there is irrefutable evidence for a significant genetic influence in many dental & occlusal variables. www.indiandentalacademy.com
  41. 41. The influence of genetics however varies according to the trait under consideration and in general remains poorly understood. More precise research tools and methods are required to improve knowledge & understanding, which in turn is a pre requisite to the appreciation of the potential for genetic and environmental manipulation in orthodontic therapy. www.indiandentalacademy.com
  42. 42. The fight between genetics and environment as a causative factor continues……. www.indiandentalacademy.com
  43. 43. Thank you !!! www.indiandentalacademy.com Leader in continuing dental education www.indiandentalacademy.com

×