Patients with dows syndrome also suffer from frequent upper respiratory tract infections,

indicating an immune defect in resistance to bacterial infection .

The gene directing synthesis of the beta subunit of the leukocyte adhesion molecule is
found on chromosome 21 and may influence neutrophil chemotaxis in these patients .

Family studies

Many reports in the literature have documented the familial pattern of the EOP diseases.
In a recent United states survey of 7447 dentate individuals aged 13 years and over, the
prevalence of several disease was low in younger age groups. The prevalence of loss of
attachment maior ou igual 5 mm was 0.3% among those 13 17 and 18/24 years old.
And 6.4 % among those 25/34 years old in this racially mixed population.
In contrast 40/50% of siblings in families with EOP may be similarly affected.
This marked aggregation of EOP within families is consistent with a genetic
predisposition to this disease. However familial patterns of disease may reflect not only a
commom genetic background but also exposure to commom environmental factors.

When evaluating the familial risk for periodontitis e importante considerar the myriad of
known environmental and behavioral risk factors including oral hygiene, exposure to
specific oral bacteria .
The presence of systemic disease , competence of the immune system .smoking and
mental factors such as stress. Some of these factors themselves may bem under genetic
control , for example the intelligence quotient of familial members may influence the
standard of oral hygiene.

The complex interactions between genes and the environment must also be considered
when evaluating familial risk for the periodontal diseases .
Currently , smoking and the presence of specific periodontal phatogens in subgingival
plaque appear to be most important environmental risk factors for periodontitis.
Transmission of periodontal phatogens within families has been documented.
A recent study by stabholz et al on a unique population of teenagers attending the same
orthodox religious school near Jerusalem reported a high prevalence of localized EOP.
Ten of 15 affected families had more than one affected sibling. Following repeated and
intensive questioning . only two sets of families were found to be related . however
because the 15 families were allof the same religion .
There were close social ties between them .
Tha authors concluded that strong environmental causation exists for localized EOP.
The findings of this study are in contrast to the consensus of the current literature.
Further microbiological and linkages studies of this population should help to elucidate
the contribution of genes and environment .
To the form of localized EOP seen in these children . since 75% of the parents originate
from the east coast of the united states and share the same orthodox religious beliefs .
It is possible they may be unaware of being distantly related.
The observation of bacterial transmission within families is insufficient on its own to
account for the familial clustering seen in EOP. In addition , it is not clear whether the
presence of specific periodontal pathogens is necessary to cause destruction in genetically
susceptibility individuals .it is possible that commensal bacterials in a individual with a
deficient immune response may be sufficient to cause tissue damage . environmental
conditions in the periodontal pocket might then favor the growth of opportunistc or
exogenous pathogens . for example smoking has important effects on inflammatory and
immune response. Smoking may tip the balance towards periodontal destruction in a
susceptibility host by, for example, suppressing levels of Ig2 antibody specific to certain
periodontal pathogens . there is also evidence to suggest that smoking may after the
composition of subgingival plaque .

Attempts to elucidate the role of inheritance in periodontal disease are complicated by the
heterogeneous nature of these diseases . variation in ages of onset and clinical
presentations of the disease further complicate formal genetic studies . finally even within
families , multiple forms of disease can co exist . generalized prepurbutal periodontitis,
localized EOP and adult periodontitis can occur in the same family .

Other reports have documented the sequential appearance of generalized prepurbertal

periodontitis in the same subject . it appears likely , therefore , that the various forms of
EOP and possibly adult periodontitis as well , have a common underlying genetic
background . for the purposes of segregation analyses most investigators have grouped
the various forms of EOP together .

Segregation analyses

There are a number of obstacles inherent in genetic studies of EOP not least of which is
the difficulty in accurately diagnosing family members . boughman et al discussed this
and other problems including the following observations
1 EOP has a variable age of onset and in most cases is not recognized until after puberty .
2 the upper age limit of expression of the disease is curtailed . because loss of attachment
in patients older than 35 cannot always be differentiated from adult periodontitis .
3 accurately determining the phenotypes of edentulous family members is difficult .
despite these difficulties . pedigree and segregation analyses of EOP support the role of a
major gene . various modes of inheritance have been postulated for EOP. These included
xlinked dominant. Autossomal recessive and autossomal dominant.
Most family studies of EOP have been conducted in north America and have consisted
primarily of African American families.
In 1976 melnick et al presented the most complete analysis of data from family studies
found in the dental literature to date . data from 19 sibships suggest that EOP was an X-
linkeed dominant trait with reduced penetrance .
Three important observations were made in support of this conclusion .firstly – the
observed ratio of females to males among affected persons was approximately .
Secondly – no father to son transmission was seen . finally the segregation ratio of 0.39
was consistent with dominant transmission with reduced penetrance . the conclusion of
this report was supported by two other studies of large families with a high prevalence of
EOP . however spektor et al noted that the prevalence in the immediate family was found
to be unusually high for an assumed X linked dominant trait.

Other researchers have disputed these conclusions hart et al re evaluated the evidence for
X linked dominant inheritance of Eop . they argued that early reports were subject to
proband bias because females are more likely to seek dental care than males .
Two more recent papers found a predominance of female probands but equal sex
distribuition among affected relatives . the reported lack of father to son transmission of
the disease was suggest to be due to incomplete pedigree information . because fathers
were often not examined in family studies .
Boughman et al . clearly demonstrated father to son transmission for EOP = lastly the
segregation ratio of 0.39 is equally compatible with either X linked or autossomal
inheritance.