Istraživanje populaciono-genetičke strukture bolesnika sa hroničnom opstruktivnom bolešću pluća primjenom testa homozigotno-recesivnih osobina
Population-genetic Structure Research in Patients with Chronic Obstructive Pulmonary Disease by Application of the Test of Homozygous-recessive Characteristics
Author
Petričević, BlaženkaMentor
Pešut, DragicaCommittee members
Cvjetićanin, SuzanaMilenković, Branislava
Novaković, Ivana
Stanković, Ivana
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Show full item recordAbstract
Uvod. Bolest rastuće prevalencije, hroničnu opstruktivnu bolest pluća (HOBP), karakteriše
oštećenje funkcije pluća, nepotpuno reverzibilno na terapiju, uz prateće egzcerbacije na
biološkom i kliničkom nivou. Ispoljava se sistemskom inflamacijom, koja izaziva posledice i
u drugim organima, i pojavom komorbiditeta. Pušenje je najveći faktor rizika a ima dokaza
da genetska predispozicija utiče na pojavu bolesti kod nekih osoba. Podložnost za HOBP nije
do sada ispitivana testom homozigotno-recesivnih osobina (HRO-test).
Cilj studije bila je analiza populaciono-genetičke strukture oboljelih od HOBP pomoću HROtesta,
t.j. ispitivanje genetičke homozigotnosti oboljelih u odnosu na kontrolnu grupu i
korelacije u odnosu na indeks tjelesne mase, stadijum HOBP, stepen ukupne izloženosti
duvanskom dimu i drugim noksama, komorbiditet i distribuciju krvnih grupa sistema ABO
oboljelih u odnosu na kontrolnu grupu i opštu populaciju.
Materijal i metode. Studijsku grupu činilo je 394 ispitanika svrstanih... u dvije grupe: 150
oboljelih od HOBP i 244 zdrava ispitanika kontrolne grupe (114 pušača i 130 nepušača). Kod
svih je primijenjen HRO-test sa 21 morfo-fiziološkom osobinom i analizirano ukupno preko
8000 markera. Urađena je statistička analiza u skladu sa ciljevima studije.
Rezultati. Utvrđen je značajno uvećani prosječan broj HRO u grupi oboljelih u odnosu na
kontrolnu grupu, kao i među bolesnicima u odnosu na stadijum bolesti. Različita je
distribucija krvnih grupa ABO sistema između oboljelih od HOBP i opšte populacije i u
odnosu na stepen funkcijskog oštećenja pluća oboljelih. Zastupljenost komorbiditeta je
značajno veća u grupi oboljelih.
Zaključak. Oboljeli od HOBP imaju povećan stepen homozigotnosti u odnosu na zdrave
osobe nezavisno od pušačkog statusa. Povećana homozigotnost oboljelih može se dovesti u
vezu sa remećenjem homeostaze, što omogućava ispoljavanje prisutnih genskih lokusa, i
time uvećava mogućnost nastanka bolesti.
Introduction. Chronic obstructive pulmonary disease (COPD) is a disease of increasing
prevalence characterized by impaired lung function, not fully reversible to treatment, with
exacerbations at the biological and clinical levels. It manifests by systemic inflammation
causing consequences in other organs, and comorbidities. Tobacco smoking is a major risk
factor, and it is evidence based that genetic predisposition may play a role in its development
in some individuals. Susceptibility to COPD has not yet been tested by the Homozygous
Recessive Characteristics Test (HRC-test).
The aim of the study was to analyze the population-genetic structure of patients with COPD
by means of the HRC-test, i.e. to determine their genetic homozygosity in relation to the
control group, and correlations with body mass index, COPD stage, total exposure to tobacco
smoke ingredients and other noxae, comorbidities, and ABO system blood group distribution
in relation to both the control group and general popu...lation they belong to.
Material and methods. The study group consisted of 394 subjects: 150 COPD patients and
244 healthy subjects of the control group (114 smokers, 130 non-smokers). All participants
were tested by HRC-test with 21 morpho-physiological markers. More than 8000 examined
traits in total were analyzed. Statistical analysis was performed to meet the aims of the study.
Results. A significantly increased mean number of HRCs is found in the group of patients
compared to the control group, as well as in the group of patients when compared them
according to the stages of the disease. The distribution of ABO blood groups between COPD
patients and the general population is different, and correlates with lung function
impairment. The prevalence of comorbidities is significantly higher in COPD patients.
Conclusion. COPD patients have an increased degree of homozygosity compared to healthy
individuals regardless of smoking status. The disturbance of homeostasis may enable the
expression of the present gene loci, which increases the possibility of COPD development.