Vice - rector for scientific research of Samarkand State Medical Institute Shukhrat Yusupov

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1 STUDY THE INTERACTION BETWEEN GENE POLYMORPHISMS, ETHNIC-SPECIFIC GENETIC BACKGROUNDS AND ENVIRONMENTAL CONTRIBUTIONS TO CHRONIC OBSTRUCTIVE PULMONARY DISEASE OCCURRENCE IN UZBEKISTAN Vice - rector for scientific research of Samarkand State Medical Institute Shukhrat Yusupov

2 Welcome to Samarkand and Samarkand State Medical Institute

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4 COPD Chronic obstructive pulmonary disease (COPD) is a lung disease characterized by chronic obstruction of lung airflow that interferes with normal breathing and is not fully reversible. Two distinct processes are involved in COPD, most often in combination: chronic bronchitis and emphysema COPD is a major and growing public health burden and the fourth leading cause of death in the world.

5 SOME STATISTICS FOR UZBEKISTAN Uzbeks are the largest, youngest and fastest growing population in Central Asia. In July 1, 2013 it was announced that the population of Uzbekistan reached 30 million thousand people. Experts predict that in 2015 the population of our Republic will be able to step over the mark of 33 million citizens. Smoking prevalence in Uzbekistan in male adults is estimated to be 20%, while the smoking rate in female adults is 1%. Additionally it should be noted that in the Republic of Uzbekistan, the environmental levels of pesticides are elevated as they are several industrial zones with elevated levels of industrial pollutants. The prevalence of COPD varies in different regions of Uzbekistan from 67 to 168 cases per people.

6 COPD Risk factors Harmful agents (smoking, pollutants, occupational factors) Respiratory infection Genetic factors COPD Only 15-20% of smokers and people exposed to pollutants develop COPD. These observations, together with the familial aggregation of COPD, indicate that genetic components contribute to the development of COPD

7 The genetic factors for COPD are still largely unknown. To date genome-wide association studies (GWASs) have identified several risk loci, such as CHRNA3 / 5, HHIP and SERPINE2. CHRNA3 and CHRNA5 genes encode alfa-3 and alfa-5 subunit of nicotinic acetylcholine receptor. HHIP gene encodes Hedgehog-interacting protein which plays an important role in the morphogenesis of the lung as well as in the repair and regeneration of airway epithelium in response to the damaging agents. SERPINE2 gene encodes an inhibitor of serine proteolytic enzymes of neutrophils and macrophages, and plays an important role in regulating the inflammatory Associations of polymorphisms of response these genes with COPD were confirmed in several ethnic and geographic groups, but to date the assessment of this association has not been performed in the Central Asia populations.

8 The aim of our research is to investigate the association between common and rear genetic polymorphisms and susceptibility to COPD in Uzbek population We are planning to engage in the study patients with COPD and individuals of control group of healthy people. patients with COPD Control group Collecting blood samples DNA extraction targeted gene sequencing on Miseq and bioinformatic analysis

9 Methodological basis for the study This research is interdisciplinary, combining technology, innovation in the field of medicine, biology and molecular genetics, including the following techniques and research methods

10 Methods of investigation 1.Clinical: Collecting smoking history, family history. Physical examination. Laboratory diagnostics tests (complete blood count CBC), urinalysis (UA), clinical biochemistry blood test. Instrumental methods of investigation: electrocardiogram (ECG), chest X-ray examination, determination of respiratory function: volume and speed performance: vital capacity (VC), forced vital capacity (FVC), forced expiratory volume in 1 second (FEV1), peak expiratory flow rate (PEFR) at different levels of FVC (75-25 UTC).

11 Methods of investigation 2.Molecular-genetic methods: Real-Time PCR, sequencing of genes by massively parallel sequencing on Miseq sequencer, as well as innovative methods of prevention and treatment of COPD.

12 Since predicting COPD is very important as this diseases can potentially progress into life-threatening conditions and treatment should be advised at an early stage of COPD, the identification of molecular genetic markers of predisposition to COPD in Uzbek population could have significant impact on identification of high risk groups for COPD in Uzbekistan for the targeted organization of effective preventive lifestyle and medical interventions on the level of the national healthcare system.

13 Thank you for your attention!