Insilico test of functional role of rs8068318 polymorphism of arterial hypertension-associated TBX2 candidate gene

In the course of this study, the functional role of rs8068318 polymorphism of the TBX2 candidate gene associated with the development of arterial hypertension was studied. The selection of the polymorphic locus was based on the data of the catalog of genome-wide association study (GWAS) of the National Human Genome Research Institute. The functional role was evaluated using online software: HaploReg (v4.1), GTExportal, and PolyPhen-

Dataset of allele and genotype frequencies of five polymorphisms candidate genes analyzed for association with body mass index in Russian women

Data on the allele and genotype frequencies of the five single nucleotide polymorphisms (SNPs) 5 genes - rs1514175 TNNI3K, rs713586 RBJ, rs887912 FANCL, rs2241423 MAP2K5, rs12444979 GPRC5B in Russian women are presented. Several genome-wide association studies identified these SNPs could be significant genetic markers associated with body mass index (BMI

Candidate genes for age at menarche are associated with endometriosis

Sixteen candidate genes for age at menarche were reported to be associated with endometriosis. The observed pleiotropy of these loci suggests a shared genetic architecture for the two phenotype

The role of polymorphism of hereditary thrombophilia candidate genes in the development of arterial hypertension in women with preeclampsia

Preeclampsia is a severe pregnancy complication that has long been one of the leading causes of maternal and perinatal mortality and morbidity worldwide. Despite the achievements of modern medicine, the etiology of this pathology is not known. Multiple risk factors for the development of PE have been identified: arterial hypertension, diabetes mellitus, obesity, a hereditary history of preeclampsia, thrombophilia, etc., but recently, special attention has been paid to genetic determinants, namely, the contribution of individual polymorphic loci of various gene

Dataset of allele and genotype frequencies of five polymorphisms candidate genes analyzed for association with body mass index in Russian women

Data on the allele and genotype frequencies of the five single nucleotide polymorphisms (SNPs) 5 genes - rs1514175 TNNI3K, rs713586 RBJ, rs887912 FANCL, rs2241423 MAP2K5, rs12444979 GPRC5B in Russian women are presented. Several genome-wide association studies identified these SNPs could be significant genetic markers associated with body mass index (BMI

Features of inclusion of persons with disabilities in the modern world

The aim of the study – to study the problems of disability as a social phenomenon of modern Russian society and theoretical models of disability, as well as to identify innovative approaches to the organization of social inclusion and prospects for the development of these models.Цель исследования – изучить проблемы инвалидности как социального феномена современного российского общества и теоретические модели инвалидности, а также определить инновационные подходы к организации социальной инклюзии и перспективы развития данных моделе

Risk factors and methods for predicting ovarian hyperstimulation syndrome (ohss) in the in vitro fertilization

The current study describes the risk factors for the development of ovarian hyperstimulation syndrome and proposes a method for specific prediction of this syndrome. This study was designed to investigate 671 therapeutic cycles in the IVF program during 2009-2018. All patients were divided into two group

Сandidate genes for age at menarche are associated with uterine leiomyoma

Age at menarche (AAM) is an important marker of the pubertal development and function of the hypothalamic-pituitary-ovarian system. It was reported as a possible factor for a risk of uterine leiomyoma (UL). However, while more than 350 loci for AAM have been determined by genome-wide association studies (GWASs) to date, no studies of these loci for their association with UL have been conducted so far. In this study, we analyzed 52 candidate loci for AAM for possible association with UL in a sample of 569 patients and 981 control

Hereditary disease epidemiology study as the basis for pharmacotherapy need determination among newborns

According to the screening data of newborns in the Belgorod region (2006 - 2013) the article determined the frequencies of hereditary metabolic diseases in order to establish the need for pharmacotherap

Dataset of allele, genotype and haplotype frequencies of four LIN28B gene polymorphisms analyzed for association with age at menarche in Russian women

International audienceIn this paper, we present the allele, genotype and haplotype frequencies of 4 single nucleotide polymorphisms (SNPs) in LIN28B gene (rs4946651, rs7759938, rs314280, rs314276) in a sample of Russian women. These SNPs had been previously identified to be associated with age at menarche in genome-wide association studies (GWAS). The information about age at menarche was obtained using the questionnaire. The frequencies of alleles, genotypes and haplotypes of four SNPs were classified in 3 groups: the whole sample, individuals with the early age at menarche (<12 years), and those with the average age at menarche (12-14 years)