Association of polymorphisms of cardiovascular system genes with idiopathic recurrent pregnancy loss of Kazakh populations

The interrelation of polymorphic variants of coagulationand cardiovascular system geneswas studied: MTHFR (C677T, A1298C), MTR(А2756G), MTRR (A66G), F5 (А506G), F2 (G20210А),FGB (G455A), ITGB3 (Leu33Pro), PLANH1 (5G/4G); GPIa(C807T), AGTR1 (A1166C), ACE (I/D), eNOS (Glu298Asp)with development of idiopathic form of recurrent pregnancyloss (iRPL) in ethnically homogeneous populationof the Kazakhs. The results of independent replicativeTaqMan genotyping of 302 patients with iRPL and 300women with normal reproduction did not reveal an associationof studied polymorphisms with the developmentof iRPL in the Kazakh population

Replicative study of susceptibility to childhood-onset schizophrenia in Kazakhs

This paper reports the results of replicative analysis of associations of 15 SNPs in a region of 14 genes previously identified in genome-wide association studies (GWAS) with early-onset schizophrenia in Kazakhs. An association of early-onset schizophrenia with genetic markers in three genes (VRK2, KCNB2, and CPVL) was found. An association of rs2312147 in the VRK2 gene with schizophrenia was also previously reported in the Chinese population, so this marker may be considered as possibly race-specific. Two groups consisting of four and six genes demonstrating intergenic epistatic interactions were revealed by multifactor dimensionality reduction methods. The gene ontologies of 14 studied genes were reduced to variants of one molecular function (peptidase activity) and one biological process (positive regulation of biosynthesis processes). Bioinformatic analysis of the protein-protein interactions of products of the genes under study demonstrates that the products of six out of 14 genes may be involved in a single interrelated network, the major connecting link of which is represented by their ubiquitination by the UBC protein

Изменения гемоциркуляторных и респираторных функций при бронхиальной астме у детей

One hundred and fifty bronchial asthma patients aged 6 to 14 yrs were complexly examined for haemodynamic parameters in correlation with the lung function and the diaphragm activity in different stages of the disease. The respiratory dysfunction based on the bronchial obstruction, irregular lung ventilation and reduction in the diaphragm functional activity was shown to be accompanied by changes in the regional and central blood circulation. A consistency of these disorders depended on the basic therapyУ 150 больных бронхиальной астмой в возрасте от 6 до 14 лет проведено комплексное исследование параметров гемодинамики во взаимосвязи с оценкой функции внешнего дыхания и активности диафрагмы в различные периоды заболевания. Показано, что респираторная дисфункция, в основе которой лежат бронхиальная обструкция, неравномерная вентиляция легких и снижение функциональной активности диафрагмы, сочетается с изменениями регионарной и центральной гемоциркуляции. Причем стойкость отмеченных отклонений зависит от применения базисной терапии

Variants in the fetal genome near FLT1 are associated with risk of preeclampsia.

: Preeclampsia, which affects approximately 5% of pregnancies, is a leading cause of maternal and perinatal death. The causes of preeclampsia remain unclear, but there is evidence for inherited susceptibility. Genome-wide association studies (GWAS) have not identified maternal sequence variants of genome-wide significance that replicate in independent data sets. We report the first GWAS of offspring from preeclamptic pregnancies and discovery of the first genome-wide significant susceptibility locus (rs4769613; P = 5.4 × 10(-11)) in 4,380 cases and 310,238 controls. This locus is near the FLT1 gene encoding Fms-like tyrosine kinase 1, providing biological support, as a placental isoform of this protein (sFlt-1) is implicated in the pathology of preeclampsia. The association was strongest in offspring from pregnancies in which preeclampsia developed during late gestation and offspring birth weights exceeded the tenth centile. An additional nearby variant, rs12050029, associated with preeclampsia independently of rs4769613. The newly discovered locus may enhance understanding of the pathophysiology of preeclampsia and its subtypes.<br/