Genome-wide sequence analyses of ethnic populations across Russia.

The Russian Federation is the largest and one of the most ethnically diverse countries in the world, however no centralized reference database of genetic variation exists to date. Such data are crucial for medical genetics and essential for studying population history. The Genome Russia Project aims at filling this gap by performing whole genome sequencing and analysis of peoples of the Russian Federation. Here we report the characterization of genome-wide variation of 264 healthy adults, including 60 newly sequenced samples. People of Russia carry known and novel genetic variants of adaptive, clinical and functional consequence that in many cases show allele frequency divergence from neighboring populations. Population genetics analyses revealed six phylogeographic partitions among indigenous ethnicities corresponding to their geographic locales. This study presents a characterization of population-specific genomic variation in Russia with results important for medical genetics and for understanding the dynamic population history of the world's largest country.

The Relationship Between Indicators of Nasal Respiratory Function and Spirometric Parameters in Children With Bronchial Asthma.

Introduction: The relationship between objective indicators of nasal obstruction and airflow limitation in children with bronchial asthma (BA) and allergic rhinitis (AR) has not yet been studied. Objective: To study the relationship between objective parameters of nasal obstruction and airflow limitation, determined using the methods of anterior active rhinomanometry (AARM) and spirometry in children with BA and AR. Materials and Methods: Eighty eight children and adolescents with BA and AR, boys-65.9% (58/88), were examined. The median age was 11.09 [10.42; 11.76] years. To determine airflow limitation, the following spirometric parameters were evaluated: forced vital capacity of the lungs (FVC), forced expiratory volume in 1 s (FEV1), the ratio of FEV1/FVC, and maximum expiratory flow at the point 25% of the flow-volume loop (MEF25). Data were recorded both in absolute values and in relative units (% pred). Nasal respiratory function was determined by AARM based on the total nasal airflow (TNAF) in absolute (Pa/cm3/s) and relative units (RTNAF, % pred). Results: In the general cohort and in boys but not in girls, a statistically significant direct correlation was found between TNAF (Pa/cm3/s) and absolute spirometry parameters of bronchial patency-all had p < 0.01. Also, RTNAF and relative MEF25 values (% pred) in the general cohort were R = 0.22, p = 0.04, and in boys, R = 0.28, p = 0.03. In girls, there was no statistically significant correlation between nasal respiratory function and spirometric parameters, all p > 0.05. Additional analysis of literature was conducted to ascertain that the identified gender differences were not occasional. Conclusion: The significant positive correlation of absolute values of AARM and spirometric parameters in children with BA and AR was established, which apparently reflects the physical development of children. Of all the relative indicators of spirometry, only MEF25 (% pred), which indirectly reflects the patency of small bronchi, had a distinct direct correlation with RTNAF. These patterns are clearly expressed in boys with BA. In girls with this disease, however, the relationship between nasal respiratory function and spirometric indicators seems to be more complex and requires further study.

Dependence of Anterior Active Rhinomanometry Indices on Nasal Obstructive Disorders in Children with Atopic Bronchial Asthma Complicated by Nasal Symptoms.

BACKGROUND: Atopic bronchial asthma (BA) in children is associated with upper airways pathology (UAP). Among them, a combination of allergic rhinitis (AR) and nasal obstructive disorders (NOD), including hypertrophy of the pharyngeal tonsil (HPT) and anomalies of the intranasal structures (AINS), is abundant. In such patients, anterior active rhinomanometry (AARM) is an important method of examining nasal patency. However, NOD can influence the AARM parameters in children with BA and nasal symptoms, and this effect must be taken into account in clinical practice. Study goal was to elucidate the effect of NOD on rhinomanometric parameters in this group of patients. METHODS: Total of 66 children with BA and AR were examined with AARM, rhinovideoendoscopy, spirometry, and standard clinical tests allowing revealing the structure of comorbid pathologies. In order to avoid the influence of anthropometric parameters of children and their age on AARM parameters, a special index of reduced total nasal airflow was used. RESULTS: It has been established that NOD, especially HPT, have a significant negative impact on the indices of anterior active rhinomanometry during the periods of both AR remission and AR exacerbation. The effect of AINS is much weaker and was remarkable only in combination with HPT.