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Morbid obesity is a severe form of obesity that leads to numerous cardiovascular, metabolic diseases and cancers, as well as increased mortality. Whole-exome sequencing is the effective tool for studying more extreme forms of disease, such as morbid obesity. The aim of the study is to identify candidate genes involved in the development of morbid obesity using whole exome sequencing. Here in this study, a family from Kazakh cohort having two siblings, one unaffected and one affected with morbid obesity was enrolled. Whole Exome Sequencing (WES) of trio with one affected and unaffected parents was done. The trio analysis revealed a number of potential candidate genes predisposing to morbid obesity. Three genetic models were used: recessive, de novo and compound heterozygote models. In the recessive model, one variant (rs116253946) in the KIAA1671 was identified as a candidate. In the de novo model, 15 polymorphisms located in 10 different genes were identified. In the compound heterozygote model, 6 polymorphisms, located in FRG1 and MST1L genes, were identified. This work presents the preliminary results of the study. Twelve genes identified by WES may be involved in the development of morbid obesity, and are grouped into three main pathophysiological pathways (immune response: MST1L, HLA-DRB5, PRRC2A, KIR2DS4; cell division and structure: CEP170, TEKT4; neuronal response: OR2T34, ANKMY2) or their function remains unknown to date (KIAA1671, TMEM191C, PPP6R2, FRG1).

The density of taste buds, differences in genes encoding receptors, and other factors affect the on perception of taste and further food preferences. This study aimed to evaluate the association between 24 single nucleotide polymorphisms and food preferences in a Kazakh cohort. A total of 400 subjects were recruited from an outpatient clinic and genotyped for 24 polymorphisms previously described as associated with eating behaviour and food preferences in other ethnic groups. Regression analysis was conducted, adjusting for age and sex. Associations were detected between rs2290550 polymorphism in phospholipase C-B2 (PLCB2), rs34160967 polymorphism in taste 1 receptor member 1 (TAS1R1) gene, and rs860170 polymorphism in TAS2R16 gene and preferences for beef steak, unleavened bread, and sweet tea or coffee, respectively. There was an association between AA haplotype (TAS2R38) and a preference for fried potato. The main results of this study are the detection of associations between nutrition-related genes (BCMO1, PLCB2, TRPV1, TAS1R1, and TAS2R) and food preferences in a Kazakh population.

Background Kazakhstan remains a high-burden TB prevalence country with a concomitent high-burden of multi-drug resistant tuberculosis. For this reason, we performed an in depth genetic diversity and population structure characterization of Mycobacterium tuberculosis complex (MTC) genetic diversity in Kazakhstan with both patient and community benefit. Methods A convenience sample of 700 MTC DNA cultures extracts from 630 tuberculosis patients recruited from 12 out of 14 regions in Kazakhstan, between 2010 and 2015, was independently studied by high-throughput hybridization-based methods, TB-SPRINT (59-Plex, n = 700), TB-SNPID (50-Plex, n = 543). DNA from 391 clinical isolates was successfully typed by two methods. To resolve the population structure of drug-resistant clades in more detail two complementary assays were run on the L2 isolates: an IS6110-NTF insertion site typing assay and a SigE SNP polymorphism assay. Results Strains belonged to L2/Beijing and L4/Euro-American sublineages; L2/Beijing prevalence totaled almost 80%. 50% of all samples were resistant to RIF and to INH., Subtyping showed that: (1) all L2/Beijing were “modern” Beijing and (2) most of these belonged to the previously described 94–32 sublineage (Central Asian/Russian), (3) at least two populations of the Central Asian/Russian sublineages are circulating in Kazakhstan, with different evolutionary dynamics. Conclusions For the first time, the global genetic diversity and population structure of M. tuberculosis genotypes circulating in Kazakhstan was obtained and compared to previous local studies. Results suggest a region-specific spread of a very limited number of L2/Beijing clonal complexes in Kazakhstan many strongly associated with an MDR phenotype. Electronic supplementary material The online version of this article (10.1186/s12879-019-4201-2) contains supplementary material, which is available to authorized users.

The incidence of drug-resistant tuberculosis in Kazakhstan has risen over the last decades, making it a serious threat. The purpose of this study was to characterize M. tuberculosis isolates circulating in the south of Kazakhstan, based on mutations of known association with multidrug-resistance and extensive drug resistance. A total of 58 clinical isolates of M. tuberculosis with drug resistance from southern Kazakhstan were selected. Seven genetic loci were sequenced, namely, rpoB (for resistance to RIF), katG, inhA (for resistance to INH), embB (for resistance to EMB), as well as the gyrA, gyrB (for resistance to CIP and OFX) and rrs (for resistance to KAN, AMK, and CPR). In addition, mutations in codon 315 of katG (n = 53; 91.4%), in codon 531 of the rpoB (n = 45; 77.6%), at the position of 1401 A/G of rrs (n = 33; 56.9%) and in the codon 94 of the gyrA were found to be prevalent in the samples. MIRU-VNTR typing showed that most isolates belong to the Beijing family (n = 53; 94.4%). Whole genome sequencing of a single M. tuberculosis strain from southern Kazakhstan was conducted. The emergence of drug-resistance is characteristic of the Beijing family, which may explain the increase in the incidence rates of resistant forms of tuberculosis in Kazakhstan.

Figure S3. Comparison between IS6110-RFLP patterns obtained in Kazakhstan (2001) and Uzbekistan. (2001â 2004). (PDF 1710 kb)

A total of 60 Mycobacterium tuberculosis isolates collected from patients in prisons in Kazakhstan and 125 from the civilian sector were examined using mycobacterial interspersed repetitive units-variable number of tandem repeat analysis in 2012. The proportion of tuberculosis strains with unique genotypes isolated from the civilian patients was 50.4%, while that in the prison patients was 31.7%. This difference was statistically significant (χ(2) 4.42, P 0.035), and may reflect a low genetic diversity of M. tuberculosis strains isolated from prison patients. The frequencies of mutations in the rpoB531 and katG315 genes of the M. tuberculosis strains isolated from the civilians and in the penitentiary system were not significantly different (rpoB531: 82.4% vs. 88.3%, and katG315: 98.4% vs. 100%, respectively).