scholarly journals Clinical features of chronic bronchitis and genetic risk factors for the development of chronic obstructive pulmonary disease in adolescent smokers

2020 ◽  
Vol 73 (2) ◽  
pp. 250-253
Author(s):  
Svitlana I. Ilchenko ◽  
Anastasiia O. Fialkovska ◽  
Olena S. Koreniuk ◽  
Tatiana V. Yaroshevska ◽  
Nataliia M. Kramarenko ◽  
...  

The aim is to study the clinical features of the course of CB in adolescent smokers and to study the genetic risk factors for the development of COPD. Materials and methods: There were examined 40 adolescent smokers with CB, 30 never-smokers adolescents with CB and 37 healthy adolescents smokers (control group). The study included the collection of anamnesis, objective examination. calculation of the smoking index and the «pack/year», molecular genetic investigations. Results: It was proved that smoking leads to the development of chronic bronchitis as early as adolescence and affects its course, increasing the frequency and duration of exacerbations. We identified an association of the 2G/2G genotype of MMP1 gene with the development of chronic bronchitis in adolescent smokers. The TT genotype of CYP1A1 gene may be considered as a possible sustainability factor for the development of chronic bronchitis in adolescent smokers. Conclusions: The study of candidate genes for COPD in childhood and adolescence will facilitate the early detection of high-risk groups in the formation of this pathology, which will allow doctors to take the necessary preventive measures.

Author(s):  
Svitlana Ilchenko ◽  
Anastasiia Fialkovska

Chronic bronchitis (CB) is a multifactorial disease with complex internal and external etiological risk factors. One of the main risk factors for the development of CB in adolescence and chronic obstructive pulmonary disease (COPD) in adults is tobacco smoking. It is also known that an important internal risk factor for the development of СB is a genetic predisposition


Author(s):  
Matthew Brown

Spondyloarthropathies are a diverse group of conditions, of which ankylosing spondylitis is the prototypic disease, with shared clinical features, genetic risk factors, and histopathological characteristics. These conditions are highly familial and heritable. Several genes have been associated with spondyloarthropathies, with genes in the IL-23 signalling pathway being shared by the major types of spondyloarthritis. These discoveries have already led to the development and successful clinical introduction of novel treatments for psoriasis and psoriatic arthritis, and major advances in our understanding of the pathogenesis of the conditions. Many more genes remain to be identified which are involved in these common conditions; identifying these genes is likely to be highly informative as to their causes.


2020 ◽  
pp. 1-13
Author(s):  
Jim van Os ◽  
Lotta-Katrin Pries ◽  
Margreet ten Have ◽  
Ron de Graaf ◽  
Saskia van Dorsselaer ◽  
...  

Abstract Background There is evidence that environmental and genetic risk factors for schizophrenia spectrum disorders are transdiagnostic and mediated in part through a generic pathway of affective dysregulation. Methods We analysed to what degree the impact of schizophrenia polygenic risk (PRS-SZ) and childhood adversity (CA) on psychosis outcomes was contingent on co-presence of affective dysregulation, defined as significant depressive symptoms, in (i) NEMESIS-2 (n = 6646), a representative general population sample, interviewed four times over nine years and (ii) EUGEI (n = 4068) a sample of patients with schizophrenia spectrum disorder, the siblings of these patients and controls. Results The impact of PRS-SZ on psychosis showed significant dependence on co-presence of affective dysregulation in NEMESIS-2 [relative excess risk due to interaction (RERI): 1.01, p = 0.037] and in EUGEI (RERI = 3.39, p = 0.048). This was particularly evident for delusional ideation (NEMESIS-2: RERI = 1.74, p = 0.003; EUGEI: RERI = 4.16, p = 0.019) and not for hallucinatory experiences (NEMESIS-2: RERI = 0.65, p = 0.284; EUGEI: −0.37, p = 0.547). A similar and stronger pattern of results was evident for CA (RERI delusions and hallucinations: NEMESIS-2: 3.02, p < 0.001; EUGEI: 6.44, p < 0.001; RERI delusional ideation: NEMESIS-2: 3.79, p < 0.001; EUGEI: 5.43, p = 0.001; RERI hallucinatory experiences: NEMESIS-2: 2.46, p < 0.001; EUGEI: 0.54, p = 0.465). Conclusions The results, and internal replication, suggest that the effects of known genetic and non-genetic risk factors for psychosis are mediated in part through an affective pathway, from which early states of delusional meaning may arise.


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