10.

5005/jp-journals-10026-1011
Dolly P Patel et al
REVIEW ARTICLE

Twin Studies: Revealing the Genetic Basis of Malocclusion

Dolly P Patel, Bhaskar Gupta, Tanmay Sharma

ABSTRACT of genes and environments.2 If we observe that children in

The relative contribution of genes and the environment to the a family are more similar than might be expected by chance,
etiology of malocclusion has been a matter of controversy this may reflect shared environmental influences common
throughout the twentieth century and the first decace of twenty- to members of family class, parenting styles, education, etc.
first century. Twin studies provide important insights into how
but they will also reflect shared genes, inherited from
genetic and environmental factors contribute to variation in
dental and craniofacial morphology. This review describes parents.2
research models involving twins, apart from the traditional The twin design compares the similarity of monozygotic
comparison of similarities in monozygotic (identical) and or identical twins, who share nearly 100% of their genetic
dizygotic (nonidentical) pairs, throws some light on zygosity
determination, summarizes some landmark twin studies in polymorphisms, to that of dizygotic or fraternal twins, who
orthodontics and future directions in dental research involving share only 50% of their polymorphisms. By studying twins,
twins are outlined. researchers can then understand more about the role of
Keywords: Twins, Twin studies, Heredity, Zygosity determination, genetic effects and the effects of shared and unique
Monozygotic and Dizygotic. environment effects. In any trait, both gene and environment
How to cite this article: Patel DP, Gupta B, Sharma T. Twin are involved and both of them collectively contribute to the
Studies: Revealing the Genetic Basis of Malocclusion. J Orofac ultimate phenotype and it is very difficult to make out their
Res 2012;2(1):48-51.
respective contribution, however twin studies can do so by
Source of support: Nil comparing monozygotic with the dizygotic twins. This gives
Conflict of interest: None declared us the information about the relative contribution of genes
and environment and how the two interact. Studying
INTRODUCTION monozygotic (identical twins) alone does not solve our
The classical twin research design, involving comparisons purpose as they have not only a similar genetic makeup but
of similarities in monozygotic (MZ) or identical pairs and also a similar environment. On the other hand dizygotic
dizygotic (DZ) or fraternal pairs, has enabled researchers (nonidentical twins) acts as a control, as they too share the
to quantify the relative contributions of genetic (nature) and same early environmental factors, but are not genetically
environmental (nurture) factors to variation in many human alike. The researchers look for traits that show a greater
physical and behavioral features and disorders. Indeed, there similarity in identical twins than in nonidentical twins—
have been several recent reviews emphasizing the value of this greater similarity must indicate a shared genetic basis
twin studies in clarifying how genetic factors affect common for the trait. This is expressed as a percentage known as
dental problems, such as dental caries, periodontal diseases ‘heritability’.
and malocclusion.1 However, with recent advances in
molecular biology and the outcome of the Human Genome Zygosity Determination
Project, some may feel that twin studies have become less Zygosity determination3 mainly aims toward investigating,
important or have lost their relevance altogether. This paper if the twins are dizygotic (arising from two zygotes) or
highlights research designs involving twins, other than the monozygotic (arising from a single zygote), comparisons
classical approach, that have the potential to further our of physical features, for example body build, facial
understanding of the role of genes in malocclusion. The appearance, eye color and ear form can provide a reasonably
complex problem of malocclusion is still the most common accurate means of distinguishing between MZ and DZ twin
reasons for people seeking dental treatment but their genetic pairs, mistakes can still be made, another way is by the use
bases remain unclear. of a questionnaire method which yields an accuracy of about
94%, but this method also has its limitations.3 Following
Why to Study Twins? the discovery of blood groups and enzyme polymorphisms,
Twin studies are one of a family of designs in population it became possible to determine whether twins were
genetics which aid the study of individual differences by monozygotic or not with relatively high probability. More
highlighting the role of environmental and genetic causes recently with advances in DNA technology, a small number
on different traits. Twins are invaluable for studying these of highly polymorphic DNA markers can be used to establish
important questions because they disentangle the sharing zygosity with very high probability.3 Rather than obtaining
48
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Twin Studies: Revealing the Genetic Basis of Malocclusion

blood samples to extract DNA, it is now possible to isolate of twins in the absence of assortative mating, to unity for
DNA from cheek cells obtained using buccal swabs. the twins themselves.2

Different Types of Twin Designs Some Landmark Studies in Orthodontics

The MZ Co-twin Design2 The Pioneer
A powerful approach to clarify the roles of genetic and Galton in 18894 was the pioneer and first to discuss the merits
environmental influences on normal features, or of twin investigations. Comparisons of the between twin
susceptibility to diseases, involves studying MZ twin pairs pair differences yielded relative assessments of the influence
who show different phenotypic expressions for a particular of heredity and environment, if the twin pairs were raised
trait or disease under investigation.2 in relatively identical environments.
Alternatively, researchers can manipulate the
environment, so that each member of a twin pair is exposed Growth and Development
to different environmental conditions. Monozygotic twin Garn, Lewis and Poleacheek5studied dental developmental
pairs are matched perfectly for age and sex and, as they stages for mandibular 1st and 2nd molars in two sets of
share the same genes except in very rare circumstances, any triplets and suggested that dental development is for the
differences between them will normally reflect environmental most part genetically determined. Picacintini6 applied the
effects. co-twin study method on six sets of same sex triplets in
whom the zygosity had previously been determined to a
Twins Reared Apart 2
high degree of probability. He concluded that combined
The ongoing studies of Tom Bouchard et al in Minnesota increment growth of maxilla and mandible of MZ co-twin
involve examination of MZ twin pairs who were separated show significantly smaller intrapair differences as compared
at birth and then reared apart in different surroundings. This to that of dizygotic co-twins. This proves the role of heredity
model overcomes one of the often mentioned limitations of in governing the growth of these individual bones.
traditional twin studies – that MZ twin pairs may be more
similar than DZ pairs for particular features, not because Craniofacial Complex
they share more genes, but because they share more of the Kraus et al7 in a twin study found out almost perfect
environmental factors that influence the trait in question.2 concordance was found in the craniofacial complex in the
MZ triples whereas only a low degree of concordance was
Opposite-sexed DZ Twins2
found in DZ triplets. They concluded that the morphology
If zygosity and sex are considered, there are five main groups of all the bones of the craniofacial complex was under rigid
of twin pairs that may be studied: MZ female pairs, MZ control of the hereditary factors. Horowitz, Osborne and
male pairs, DZ female pairs, DZ male pairs and DZ male- De George8 did a cephalometric study of craniofacial
female pairs. Comparison of correlations between same-sex variation in 56 twin pairs and concluded that there is a highly
DZ pairs and opposite-sexed DZ pairs provide an significant genetic variation in anterior cranial base,
opportunity to investigate whether primary or secondary mandibular body length and lower face height. They also
sexual characteristics are affected by diffusion of hormones stated that the upper face height is the more stable element
in utero.2 in the facial profiles as it does not contribute greatly to the
genetic variability of the face as a whole. Lower face height
The Twin Half-sib Model 2 demonstrates a large degree of hereditary variability.
This model involves making comparisons between the
offspring of MZ pairs and their partners. The advantage Tooth Size/Occlusal Variations
of this model is that the children of MZ pairs who are Detlefsen9 stated that tooth shape and size and arch shape
born to different mothers are themselves genetically half- and size, were largely determined by hereditary
siblings.2 constitutional factors. Lundstrom10 studied tooth size and
Because MZ twin pairs have identical genotypes, their occlusion in twins. He concluded that heredity is an
children will share, on average, half their genes whether important factor in malocclusion. In class I cases, he found
they have the same twin as a parent or not. Monozygotic 87.3% of MZ twins and 84.6% of DZ twins and in class II,
pairs, their spouses and their offspring share different levels 67.7% of MZ twins and 10% of DZ twins having
of genetic relationship, ranging from zero for the spouses concordance. Horowitz et al11 carried out a study on 54 pairs
Journal of Orofacial Research, January-March 2012;2(1):48-51 49
Dolly P Patel et al

of like sexed adult twins. They studied the tooth dimension the environment. The greater the genetic component, the
of maxillary and mandibular permanent anterior teeth and worse the prognosis for a successful outcome by means of
found strong genetic component of variability of the four orthodontic intervention. The difficulty, of course, is that
maxillary and four mandibular incisor teeth. The canine teeth it is seldom possible to determine the precise contribution
demonstrated relatively low hereditary component of from hereditary and environmental factors in a particular
variability. The differences between the monozygotic and case.
dizygotic twin pairs were statistically highly significant for In dentofacial structure and malocclusion are primarily
all the teeth. Corruccini and Potter12 studied occlusal genetic, e.g. severe mandibular prognathism or endogenous
variation in sample of 32 MZ and 28 DZ twins pairs. Teeth tongue thrust, the treatment will either be palliative or
displacement and crossbite were the most significantly surgical. The search for a solution would ultimately focus
heritable criteria of occlusion. Significant heritability of on delineating the responsible genes. Conversely, if
overjet, buccal segment relation, overbite, tooth rotation/ components of dentofacial structure and malocclusion have
displacement could not be documented. These results trivial heritabilities, then the search needs to be directed at
demonstrated a considerably increased environmental environmental factors including malocclusion during growth
component of variance in occlusion. and development. The dentition in particular provides a very
useful model system to investigate developmental
Arch Shape and Palatal Morphology mechanisms, given that teeth begin to develop soon after
Goldberg 13 stated for the arch form, that with a few conception and then form in an orderly sequence over an
exceptions, unilateral difference between twins were less extended period of time. Once formed, teeth are not re-
than bilateral differences between the arch sides of the same modelled, so they can be used to make retrospective
twin. Shapiro et al14 in his study on 102 pairs of twins found assessment of how developmental disturbances affect
that there is greatest influence of genetic factors on palatal morphogenetic processes both pre- and postnatally. Multi-
height. For palatal length, greatest contributions from disciplinary studies of twins, with input from orthodontists,
environmental factors determined its variability. Riquelme molecular geneticists and twin researchers, hold great
and Green 15studied palatal width, length and height in 32 promise for the future, not only in clarifying how genetic
pairs of like- sexed Caucasian twins. The palatal width and factors contribute to oral diseases and disorders, but also in
height and length dimensions revealed a significant unraveling the mysteries of how our facial symmetry is
component of hereditary variability. Thus, heredity is determined.
suggested as strong etiological factor in malocclusions where
palatal dimensions are involved. No significant sex CONCLUSION
differences were found to exist between any of the mean With the advances that have occurred in both human
intrapair variances of the MZ and DZ twins. quantitative genetics and molecular biology over the past
decade, we are now in a position to build a more complete
DISCUSSION understanding of how our genes and the environment
Skeletal jaw discrepancies and malocclusion of genetic contribute to a range of dental diseases and malocclusions
origin can be successfully treated orthodontically, except that display multifactorial etiology.1 Far from being out-
in extreme cases where surgical intervention is required. dated, well-designed twin studies have a central role to play
This is because it is possible to modify the direction of in this new era. They can throw new light on how genes
dentofacial growth using orthodontic appliances and influence developmental mechanisms.
therefore change or forestall morphogenetic abnormalities. Our challenge as dental researchers and orthodontists
Orthodontic correction of a malocclusion is in effect altering will be to translate the knowledge we will soon have about
the phenotypic expression of a particular morphogenetic the genetic basis of disorders affecting the oral hard and
pattern. The degree to which this can be successfully soft tissues into improved preventive and treatment strategies
achieved depends on: (1) The relative contribution of each for the community at large.
factor to the existing problem. (2) The extent to which Observations by orthodontists of twin pairs presenting
skeletal pattern can be influenced by orthodontic and at private or public dental clinics can also provide valuable
orthopedic appliances. insights into how genes and the environment interact during
In clinical orthodontics it must be appreciated that each development. Finally, we can say that twin studies are here
malocclusion occupies its own distinctive slot in the genetic to stay and they will keep throwing light on the relative
/environmental spectrum and therefore, the diagnostic goal influence of genetics and environmental factors in the
is to determine the relative contribution of genetics and etiology of malocclusion.
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Twin Studies: Revealing the Genetic Basis of Malocclusion

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Professor and Head, Department of Orthodontics and Dentofacial
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Orthopedics, Government Dental College and Hospital, Ahmedabad
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Gujarat, India
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Journal of Orofacial Research, January-March 2012;2(1):48-51 51