Search

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.

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.