Novokhatnya A. E., Lobunets O. O.,
Shapovalova O. E.
Kharkiv Medical Academy of
Postgraduate Education, Ukraine
Clinico-genetic issues of
gastroenterological pathology development on the background of respiratory
diseases
One of the directions of medicine development is
the priority of individualization in diagnosis, treatment and prophylaxis of
diseases [1, 2], especially concominant [3], which is conducted, significantly, by evaluation of
genetic aspects.
Genetic issues of gastroenterological pathology
development on the background of respiratory diseases is actual, treating but
still not enough discovered problem of modern medicine in general and therapy
(gastroenterology, pulmonology) as well.
It has been stated that SPINK1 p. N34S gene
variation might be one of possible endogenous factor related to chronic
pancreatitis development. The meta-analysis of studies (20072015) related to
the impact of SPINK1 p.N34S gene variation in Caucasic
patients with chronic pancreatitis conducted by Di Leo M. et al has confirmed
the association between SPINK1 p.N34S gene variation and chronic pancreatitis,
together with the fact that an idiopathic etiology needs a better definition by
means of genetic analysis [4].
The fact of close interrelation of exogenous and
endogenous (genetic) aspects in gastropulmonological
pathology development is indirectly represented by the study dedicated to
reveal if genetic factors interact with tobacco smoke to modify risk for
inflammatory bowel disease in humans and mice [5]. In an analysis of 55 immunochip-wide
data sets, they identified 64 single nucleotide polymorphisms whose association
with risk for inflammatory bowel disease is modified by tobacco smoking.
Gene-smoking interactions were confirmed in mice with disruption of Il10 and
Nod2-variants of these genes have been associated with risk for inflammatory
bowel disease. Their findings from mice and humans revealed that the effects of
smoking on risk for inflammatory bowel disease depend on genetic variants.
Apart of above mentioned, genotyping of 167
inflammatory bowel disease patients using polymerase chain reaction-based
methodology and testing for disease genotype-phenotype associations showed that
in patients with ileal localization of disease it was
more frequent in NOD2 variant carriers. Ileal
inflammatory bowel disease was associated with IL-6 GC+CC genotypes,
identifying C allele as a possible marker of increased risk for ileal inflammatory bowel disease. In inflammatory bowel
disease patients a positive family history for inflammatory bowel disease was
related to earlier onset of disease, higher risk for inflammatory bowel disease
-related surgery, and appendectomy. Inflammatory bowel disease patients who are
TLR4 299Gly carriers are at higher risk for surgery at onset of the disease
compared with TLR4 299Asp variant carriers. The presence of granuloma in biopsy
specimens was more frequent in patients in whom a diagnosis of inflammatory
bowel disease was made during emergency surgery. Multivariate analysis showed
that inflammatory bowel disease carriers of the 299Gly allele had a 4.6-fold
higher risk for emergency surgery before inflammatory bowel disease diagnosis
is established compared with noncarriers, suggesting an aggressive disease
course. Granuloma in endoscopic biopsies is detected 5.4-fold more frequently
in patients treated surgically at the time of diagnosis. This proved that
genetic variants together with epidemiological and clinical data of
inflammatory bowel disease patients could potentially be used as predictors of
the disease course [6].
Undoubtfully, an important pathophysiological
joint role is played by genetic, inflammatory, microbiological issues [7] etc.
Identification of genetic markers of pathology indentifies novel risk group criteria [8].
Conclusions. Thus, clinico-genetic issues of gastroenterological pathology
development on the background of respiratory diseases deserves a special
attention. Further perspectives should concern investigations of genetic
aspects merging gastroenterological and pulmonological pathology development.
References:
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