ANALYSIS OF SOCIAL AND DEMOGRAPHIC AND CLINICAL CHARACTERISTICS OF PATIENTS WITH PARANOID SCHIZOPHRENIA OF THE KAZAKH ETHNIC GROUP IN THE REPUBLIC OF KAZAKHSTAN.

The socio-demographic and clinical characteristics of patients of the Kazakh ethnic group suffering from paranoid schizophrenia were studied in order to increase the efficiency of providing them with specialized psychiatric care in the Republic of Kazakhstan. The analysis of social and demographic characteristics of the examined group of 1200 patients of the Kazakh population with a clinically verified diagnosis: "Paranoid schizophrenia" (F20.0) in the period from 2021 to 2023 showed that these were mainly people of average working age (31-50 years - 55.59%), a significant part of whom, despite a fairly good level of education, were socially maladapted in family and household terms, more than 80% of them had a disability due to mental illness, which it may indicate the severity of the underlying mental disorder. The analysis of clinical characteristics (according to the PANSS scale) showed that in patients with a continuous type of paranoid schizophrenia, the severity of mental disorders (93.06 points) significantly exceeded the same indicator in patients with an episodic type of the disease (76.87 points), mainly due to the difference in the scale of general psychopathological symptoms. It is established that for people of the Kazakh ethnic group suffering from paranoid schizophrenia, concomitant narcological pathology is not characteristic.

Association between ALOX15 gene polymorphism and brick-tea type skeletal fluorosis in Tibetans, Kazaks and Han, China.

To evaluate the association between ALOX15 gene polymorphism and skeletal fluorosis (SF), a case-control study was conducted. A total of 1023 individuals, including 308 Tibetans, 290 Kazaks and 425 Han, were enrolled in this study, in which cases and controls were 278 and 745, respectively. SF was diagnosed by X-ray absorptiometry. SNPs were genotyped using the Sequenom Mass ARRAY system. The genotypes of ALOX15 rs7220870, rs2664593 and rs1107852 were not associated with the risk of SF. After reconstructing the haplotype of rs7220870 and rs11078528, the risk effect of haplotype CA was found in Han participants aged ≤45 years or with moderate fluoride intake. Diplotype of CC/CC had a protective effect on SF risk in Han participants; whereas, CA/CC diplotype showed a risk effect on SF risk in participants aged ≥65; Our results provide the first evidence of an association between ALOX15 gene polymorphism and SF risk in Han participants.Abbreviation: SF: Skeletal fluorosis; SNP: Single Nucleotide polymorphism.

Genetic substructure and admixture of Mongolians and Kazakhs inferred from genome-wide array genotyping.

BACKGROUND: Mongolian populations are widely distributed geographically, showing abundant ethnic diversity with geographic and tribal differences. AIM: To infer the genetic substructure, admixture and ancient genetic sources of Mongolians together with Kazakhs. SUBJECTS AND METHODS: We genotyped more than 690,000 genome-wide SNPs from 33 Mongolian and Chinese Kazakh individuals and compared these with both ancient and present-day Eurasian populations using Principal Component Analysis (PCA), ADMIXTURE, Refine-IBD, f statistics, qpWave and qpAdm. RESULTS: We found genetic substructures within Mongolians corresponding to Ölöd, Chahar, and Inner Mongolian clusters, which was consistent with tribe classifications. Mongolian and Kazakh groups derived about 6-40% of West Eurasian related ancestry, most likely from Bronze Age Steppe populations. The East Asian related ancestry in Mongolian and Kazakh groups was well represented by the Neolithic DevilsCave related nomadic lineage, comprising 42-64% of studied groups. We also detected 10-51% of Han Chinese related ancestry in Mongolian and Kazakh groups, especially in Inner Mongolians. The average admixture times for Inner Mongolian, Mongolian_Chahar, Mongolian_Ölöd and Chinese Kazakh were about 1381, 626, 635 and 632 years ago, respectively, with Han and French as the sources. CONCLUSION: The DevilsCave related ancestry was once widespread westwards covering a wide geographical range from Far East Russia to the Mongolia Plateau. The formation of present-day Mongolic and Turkic-speaking populations has also received genetic influence from agricultural expansion.

FRZB1 rs2242070 polymorphisms is associated with brick tea type skeletal fluorosis in Kazakhs, but not in Tibetans, China.

Skeletal fluorosis is a metabolic bone and joint disease caused by excessive accumulation of fluoride in the bones. Compared with Kazakhs, Tibetans are more likely to develop moderate and severe brick tea type skeletal fluorosis, although they have similar fluoride exposure. Single nucleotide polymorphisms (SNPs) in frizzled-related protein (FRZB) have been associated with osteoarthritis, but their association with the risk of skeletal fluorosis has not been reported. In this paper, we investigated the association of three SNPs (rs7775, rs2242070 and rs9288087) in FRZB1with brick tea type skeletal fluorosis risk in a cross-sectional case-control study conducted in Sinkiang and Qinghai, China. A total of 598 individuals, including 308 Tibetans and 290 Kazakhs, were enrolled in this study, in which cases and controls were 221 and 377, respectively. The skeletal fluorosis was diagnosed according to the Chinese diagnostic criteria of endemic skeletal fluorosis (WS192-2008). The fluoride content in tea water or urine was detected using the fluoride ion electrode. SNPs were assessed using the Sequenom MassARRAY system. Binary logistic regressions found evidence of association with rs2242070 AA genotype in only Kazakh participants [odds ratio (OR) 0.417, 95% CI 0.216-0.807, p = 0.009], but not in Tibetans. When stratified by age, this protective effect of AA genotype in rs2242070 was pronounced in Kazakh participants aged 46-65 (OR 0.321, 95% CI 0.135-0.764, p = 0.010). This protective association with AA genotype in rs2242070 in Kazakhs also appeared to be stronger with tea fluoride intake > 3.5 mg/day (OR 0.396, 95% CI 0.182-0.864, p = 0.020). Our data suggest there might be differential genetic influence on skeletal fluorosis risk in Kazakh and Tibetan participants and that this difference might be modified by tea fluoride intake.

Inhibitory effects of candesartan on KCa3.1 potassium channel expression and cell culture and proliferation in peripheral blood CD4+T lymphocytes in Kazakh patients with hypertension from the Xinjiang region.

BACKGROUND AND AIM: Increasing evidence confirms that potassium channels are essential for lymphocyte activation, suggesting an involvement in the development of hypertension. Moreover, chronic inflammation is regarded as a direct or indirect manifestation of hypertension, highlighting the theoretical mechanisms. In this study, we investigated changes in KCa3.1 potassium channel expression in the blood of hypertensive and healthy Kazakh people in north-west China. METHODS: Flow cytometry technology was used for T-lymphocyte subtype analysis. Changes in the messenger RNA and protein expression of the KCa3.1 potassium channel in CD4+ T lymphocytes were detected using real-time quantitative polymerase chain reaction and western blots, using CD4+ T-cell samples from hypertensive Kazakh patients divided into candesartan and TRAM-34 treatment groups, and healthy case controls. Peripheral blood CD4+ T lymphocytes were activated and proliferated in vitro and then incubated for 0, 24, and 48 h under various treatment conditions. Changes in CD4+ T-lymphocytic proliferation were determined using Cell Counting Kit-8 and electron microscope photography. RESULTS: Expression of KCa3.1 was significantly higher in the hypertensive patients than in the controls (p < 0.05). Compared with the healthy group, Kazakh hypertensive patients had a reduced proportion of CD4+ T lymphocytes (p < 0.05).Candesartan and TRAM-34 intervention for 24 h and 48 h inhibited the expression of Kv1.3 and KCa3.1 at mRNA and protein level (p < 0.05). CONCLUSIONS: Increase in functional KCa3.1 channels expressed in CD4+ T lymphocytes of Kazakh patients with hypertension was blocked by candesartan, providing theoretical support for hypertension treatment at the cellular ion channel level. Candesartan may potentially regulate hypertensive inflammatory responses by inhibiting T-lymphocytic proliferation and KCa3.1 potassium channel expression in CD4 + T lymphocytes.

Identification and characterization of NPC1L1 variants in Uygur and Kazakh with extreme low-density lipoprotein cholesterol.

BACKGROUND: Plasma levels of low-density lipoprotein cholesterol (LDL-C) are a major risk factor for cardiovascular disease and are influenced by both heredity and dietary habits. The Niemann-Pick C1 like 1 (NPC1L1) protein mediates efficient dietary cholesterol absorption and contributes to variations in human LDL-C levels. METHODS: In the present study, using high throughput sequencing we identified three non-synonymous (NS) variations and 64 synonymous variations in the NPC1L1 gene from subsets of Chinese Han, Uygur and Kazakh populations with high or low LDL-C. Subsequently, three NS variations encoding R174H, V177I and V1284L substitutions were observed only in Uygur and Kazakh individuals with limited maximal plasma LDL-C levels. RESULTS: In further experiments, we investigated cholesterol-regulated recycling and glycosylation and stability of these NS NPC1L1 variants. However, no significant differences between WT and variant NPC1L1 proteins were observed using in vivo assays in mouse livers with adenovirus-mediated expression, demonstrating that none of the three NPC1L1 NS variants caused decreased uptake of biliary cholesterol. CONCLUSIONS: Simultaneously, these data indicate that R174H, V177I and V1284L NPC1L1 variations in high or low LDL-C individuals may not directly influence cholesterol absorption by NPC1L1.

Association of Insulin Resistance with Glucose and Lipid Metabolism: Ethnic Heterogeneity in Far Western China.

Objective. To study the relationships between IR and glucose and lipid metabolism in far western China and these relationships' ethnic heterogeneity. Methods. From the baseline survey, 419 Uygur cases, 331 Kazak cases, and 220 Han cases were randomly selected, resulting in a total of 970 cases for study. FINS concentration was measured by radioimmunoassay. Results. (1) In the Kazak population, IR was correlated with hyperglycemia; high levels of TC, TG, and LDL-C; and low levels of HDL-C and abdominal obesity (all P < 0.05). (2) In the Uygur population, the influence of IR on hyperglycemia and abdominal obesity was the greatest. In the Kazak population, IR was associated with hyperglycemia most closely. In the Han population, IR may have had an impact on the incidence of low HDL-C levels. (3) After adjusting for sex, age, smoking status, and alcohol consumption, IR was still associated with anomalies in the metabolism of the Uygur, Kazak, and Han populations. Conclusion. IR was involved in the process of glucose and lipid metabolism, and its degree of involvement differed among the ethnicities studied. We could consider reducing the occurrence of abnormal glucose and lipid metabolism by controlling IR and aiming to reduce the prevalence of metabolic syndrome and related diseases.

Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.

With a prevalence of 0.1 %, hearing loss is among the most common sensory impairments and affects several million people around the world. Identification of deafness-related genes or loci may facilitate basic research and clinical translational research of the disorder. The PTPRQ gene encodes protein tyrosine phosphatase receptor Q, which is required for the formation of shaft connectors and the normal maturation and development of hair bundles in the mammalian cochlea. Here, we present the genetic and molecular characteristics of a Kazakh family with an autosomal recessive non-syndromic hearing impairment, DFNB84. Using whole-exome sequencing, we identified two mutations that together form a novel compound heterozygous mutation in PTPRQ. Sanger sequencing confirmed that the affected members inherited both the c.16_17insT (L8fsX18) and c.2714delA (E909fsX922) mutations. Both mutations lead to a frameshift and a truncated form of the protein. The novel compound heterozygous mutation co-segregated with hearing loss in this family, and neither of the two mutations was found in 200 healthy Kazakh controls or in any of the public databases. In the study, we identified novel mutations in PTPRQ responsible for DFNB84. This is the third report of PTPRQ mutations involved in deafness and the first report of familial deafness in China. The identification of novel mutations in PTPRQ presented here further confirms the essential role of PTPRQ in hearing development and auditory function. Our data provide additional molecular information for establishing a better genotype-phenotype understanding of DFNB84.

Overweight, high blood pressure and impaired fasting glucose in Uyghur, Han, and Kazakh Chinese children and adolescents.

OBJECTIVES: To investigate whether the levels of blood pressure and fasting glucose differ among Chinese children of three different ethnicities (i.e., Uyghurs, Kazakhs, and Hans) and whether the differences are explained by childhood obesity. METHODS: A school-based cross-sectional study was conducted in a large three ethnic pediatric population (n = 6633), whose ages ranged from 7 to 18 years. Anthropometrics and blood pressure were measured using standard protocols. Fasting glucose was measured in a subset of children (n = 2295) who were randomly selected based on ethnicity and age. The age-sex stratified Chinese national cut-offs were used to define obesity and high blood pressure (HBP). The prevalence of HBP, impaired fasting glucose (IFG), mean levels of blood pressure, and glucose were compared among three ethnic groups. RESULTS: 2142 Uyghurs, 2078 Han, and 1997 Kazakhs were analyzed. After adjusting for age and body mass index (BMI), the mean blood pressure for Uyghurs was on average, 2-4 mm Hg lower than those for Hans and Kazakhs. Kazakhs had the lowest mean fasting glucose compared with Hans and Uyghurs (4.5 vs. 5.0 vs. 4.8 mmol/L, respectively). The differences in blood pressure and fasting glucose persisted even after adjusting for age and BMI, and the differences among ethnic groups in blood pressure levels and fasting glucose levels were observed as early as 7-9 years of age. CONCLUSIONS: The prevalence of HBP and IFG differed significantly among Uyghurs, Hans, and Kazakhs, and the ethnic differences observed in childhood were consistent with those observed in adults from the same region. While childhood obesity is a significant risk factor for hypertension and elevated glucose, the differences among ethnic groups were not explained by obesity alone.

Roles of phosphorylated JNK in esophageal squamous cell carcinomas of Kazakh ethnic.

The c-Jun NH2 -terminal kinase (JNK) signal pathway has been implicated in the growth, cellular proliferation, and apoptosis in many kinds of carcinomas. However, the role of JNK in the development of esophageal squamous cell carcinomas (ESCCs) is unknown. To investigate the role of JNK in ESCC, in vitro, esophageal cancer cell line Eca109 was pretreated using SP600125, JNK specific inhibitor, then was subjected to MTT assay to examine cellular proliferation, flow cytometric analysis to detect apoptosis and cell cycle, and wound healing assay to evaluate cell migration. Meanwhile, the mRNA and protein expression of JNK in Eca109 cells pretreated with SP600125 were examined by real-time quantitative reverse transcription PCR (qRT-PCR) and Western blotting, respectively. In vivo, 12 paired of fresh ESCC and normal adjacent tissues (NAT) from Kazakh patients were used to validate the expression of JNK by qRT-PCR and Western blotting. Furthermore, to reconfirm the expression trend of activation JNK (p-JNK), enlarged 72 paired of Kazakh's ESCC and NAT were subjected to immunohistochemistry. Our results showed that the suppression of p-JNK could lead to apoptosis and reduce proliferation in Eca109 cells. However, there was an elevated expression of p-JNK protein in NAT compared with ESCC tissues, and there was significant difference between p-JNK expression and pathological differentiation (P < 0.05) in Kazakh populations. Together, all the data we obtained in the present study indicated that the p-JNK MAPK pathway was involved in pathogenesis of Kazakh's ESCC, and played a different roles in carcinogenesis and development of Kazakh's ESCC.

[Relationship between rs2274223 and rs3765524 polymorphisms of PLCE1 and risk of esophageal squamous cell carcinoma in a Kazakh Chinese population].

OBJECTIVE: To investigate the association between the rs2274223 and rs3765524 polymorphism of phospholipase C epsilon 1 (PLCE1) gene and the susceptibility to develop esophageal squamous cell carcinoma (ESCC) in a pure Kazakh Chinese population. METHODS: Matrix-assisted laser desorption/ionization time of flight mass spectrometry (MALDI-TOF MS) was utilized to genotype the potentially functional single nucleotide polymorphism rs2274223 A>G and rs3765524 C>T of PLCE1 in an ongoing hospital-based and case-control study of 200 ESCC cases with 300 cancer-free age ( ± 5 years) and sex matched controls. Statistical analyses were performed with Statistical Products and Services Solutions software (version 13.0). Adjusted odds ratios (OR) and 95% confidence evaluation intervals (95%CI) measured by multivariate logistic regression analysis were adopted to study the correlation of the gene polymorphism with the susceptibility to ESCC. RESULTS: The genotype frequencies observed for rs2274223 was consistent with Hardy-Weinberg equilibrium in controls. Univariate analysis revealed significant differences between cases and controls with respect to genotype distribution for rs2274223 (P = 0.006). The variants of rs2274223 were found to confer significantly increased risk of ESCC (GG vs AA: OR = 3.17, 95%CI = 1.45-6.93; AG/GG vs AA: OR = 1.55, 95%CI = 1.08-2.22) in the Kazakh Chinese population. Moreover, AG/GG genotype of rs2274223 was found to be significantly associated with poorly-differentiated ESCC (OR = 2.48, 95%CI = 1.10-5.60). When the ESCC patients were divided into two subgroups, stage I/II and stage III/IV according to the AJCC TNM classification, the GT/GG genotype of rs2274223 was significantly associated with stage III/IV ESCC (OR = 1.85, 95%CI = 1.05-3.25). No significant association was found between rs3765524 and Kazakh ESCC. CONCLUSIONS: These results indicate that rs2274223 site polymorphism of the PLCE1 gene is strongly associated with risk of ESCC in a Kazakh Chinese population, especially the poorly-differentiated and stage III/IV ESCC.

HLA-DRB1*1501 and HLA-DQB1*0301 alleles are positively associated with HPV16 infection-related Kazakh esophageal squamous cell carcinoma in Xinjiang China.

Multiple determinant factors are involved in the occurrence and progression of esophageal squamous cell carcinoma (ESCC). Human papillomavirus (HPV) and human leukocyte antigen (HLA) polymorphism were identified as important factors. This study examined the associations between the development of Kazakh ESCC and the determinant factors including HLA-DRB1*0901, 1501; DQB1*0301, 0602; high-risk HPV infection in the area of Xinjiang, China. 200 Kazakh patients with ESCC and 150 controls were recruited, and polymerase chain reaction (PCR) was performed to detect HLA-DRB1*0901, 1501 and DQB1*0301,0602 using sequence-specific primers (SSPs). HPV16 was detected in esophageal specimens using PCR. HPV16 infection rate in Kazakh ESCC case group was 41 %, significantly higher than that of control group 14 % (OR = 3.62; 95 % CI, 2.15-6.09; P < 0.001). A positive association between ESCC and HLA-DRB1*1501 (OR = 2.46, P < 0.0125) or HLA-DQB1*0301 (OR = 3.34, P < 0.0125) alleles was observed. Similar tendencies were observed for HLA-DRB1*1501 (OR = 3.095, P < 0.0125) and HLA-DQB1*0301 (OR = 2.410, P < 0.0125) alleles with HPV16-positive ESCC. HLA-DRB1*1501, HLA-DQB1*0301 and DQB1*0602 were significantly associated with ESCC when the age was ≥55 years (P < 0.0125 for all), whereas only HLA-DQB1*0301 was significantly associated with ESCC when the age was <55 years (P < 0.0125). HLA-DRB1*1501 and HLA-DQB1*0301 were significantly associated with an increase in ESCC occurrence in females (P < 0.0125), whereas only HLA-DQB1*0301 was significantly associated with ESCC in males. Moreover, the occurrence of HLA-DQB1*0602 gene in poorly differentiated ESCC group (68.8 %) was slightly higher than that of well-differentiated squamous cell carcinoma group (31.2 %). The difference was not statistically significant (P > 0.0125). The study suggests that HLA-DRB1*1501 and HLA-DQB1*0301 may influence the immune response to specific tumor and HPV-encoded epitopes and affect the risk of Kazakh ESCC in XinJiang, China.

Ethnic disparities in the clustering of risk factors for cardiovascular disease among the Kazakh, Uygur, Mongolian and Han populations of Xinjiang: a cross-sectional study.

BACKGROUND: Chinese Uygur, Kazakh, Mongolian and Han populations represent >90% of the total population of Xinjiang Uygur Autonomous Region, and their genetic backgrounds, customs, culture, and food consumption are different. The effect of ethnic differences on cardiovascular disease risk factors (CRFs; hypertension, obesity, diabetes, dyslipidemia, smoking) can be striking but is rarely studied. We report here the findings of the relationship among these ethnic groups and their CRFs across the four largest ethnic groups of Xinjiang. METHODS: A cross-sectional survey of representative samples was conducted 2002-2008 in Chinese Uygur, Kazakh, Mongolian and Han populations (age >30 years; 4,421 Kazakh, 3884 Han, 3,218 Uygur, and 892 Mongolian individuals) in Xinjiang. RESULTS: A total of 90.4% of Kazakh, 91.9% of Uygur, 90.4% of Mongolian, 85.1% of Han individuals had at least one CRF. Clustering of ≥2 or ≥3 of these risk factors was noted in 65.2% or 32.1% of Kazakh, 64.8% or 33.0% of Uygur, 66.9% or 36.5% of Mongolian as well as 62.0% or 28.3% of Han subjects, respectively. Compared with the Han population, the adjusted odds ratios of ≥1, ≥2, and ≥3 CRFs for Kazakh, Uygur and Mongolian populations were higher (all P<0.001). The age-standardized prevalence of the clustering of ≥1, ≥2, and ≥3 CRFs in Kazakh, Uygur, Mongolian, and Han populations was lower than their counterparts in the NHANES Ш study (USA) but higher than in the InterASIA Study (China). CONCLUSIONS: Ethnic groups living in Xinjiang had striking differences in CRFs. Ethnic-specific strategies should be developed to prevent cardiovascular disease in different ethnic groups.

Distribution of HLA-A, -C, -B, -DRB1, and -DQB1 polymorphisms in the Korean minority in Kazakhstan, and relatedness to neighboring and distant populations.

BACKGROUND: Among the 125 ethnicities and linguistic groups in Kazakhstan, Koreans represent the eighth minority numerically. HLA class I and class II allele frequencies and extended haplotypes were studied for the first time and were compared to related and distant populations worldwide. METHODS: HLA class I (A, B, C) and class II (DRB1, DQB1) profile was investigated in Kazakhstani Koreans, and were compared to other populations using standard genetic distances (SGD), neighbor-joining dendrograms, correspondence, and haplotype analysis. RESULTS: One hundred and thirty-one HLA alleles were identified in Koreans living in Kazakhstan, with A*02:01 (23.08%), B*35:01 (8.24%), C*01:02 (15.38%), DRB1*08:03 (9.89%), and DQB1*03:01 (21.98%) being the most frequent alleles. A*03:01 âˆ¼ B*07:02 (3.85%), B*08:01 âˆ¼ DRB1*03:01 (3.85%), B*07:02 âˆ¼ C*07:02 (7.14%), and DRB1*08:03 âˆ¼ DQB1*06:01 (9.34%) were the most frequent two-locus haplotypes, while A*02:01 âˆ¼ B*18:01 âˆ¼ C*07:01 âˆ¼ DRB1*11:04 âˆ¼ DQB1*03:01 and A*33:03 âˆ¼ B*44:03 âˆ¼ C*14:03 âˆ¼ DRB1*13:02 âˆ¼ DQB1*06:04 (2.2% each) were the most frequent five-locus haplotypes. CONCLUSION: Korean minority in Kazakhstan was closely related to East Asians, including Mongolians (SGD, 0.044), Tuvans (East Siberia; SGD, 0.081), Burayts (Siberia; SGD, 0.094), but distant from East Mediterranean such as Lebanese (SGD, 0.367), Greek (SGD, 0.377), and Saudi (SGD, 0.414), and most Siberians (SGD, 0.473-0.699). This relatedness could be mainly attributed to massive migration of Koryo Saram to Kazakhstan in the 20th century.

[Polymorphic markers of some genes associated with multiple sclerosis in the population of Kazakhstan].

Associations of DR2 specificity of the DRB1gene and single-nucleotide polymorphisms of the tumor necrosis factor gene TNFalpha (-308 G/A), interleukin genes IL-beta (-511 C/T), IL-2 (-475 A/T and -631 G/A), IL-6(-634 C/G), paraoxanase gene PON1 (M55L, Q192R), and the mitochondrial protein transport gene UCP2 (-866 G/A) with the development of multiple sclerosis (MS) were studied in two main ethnic groups of Kazakhstan (Kazakhs and Russians). An association of DR2 specificity of the DRBI gene with MS was found in the combined group of Kazakhs, Russians, and offsprings from mixed marriages. No correlation between DR2 specificity and MS was found in the separately examined groups of Kazakhs and Russians. Statistically significant (p < 0.05) differences between the MS patients and healthy individuals were observed in the distribution of the genotypes at site -634 G/C of the IL-6 gene in the Kazakh group, in the allelic frequencies at site -308 A/G in the promoter region of the TNFalpha gene in the Russian group, and in the frequencies of alleles at the polymorphic Q 192R locus of the PON1 gene in the Kazakh group. No significant differences were revealed in the distribution of the genotypes and in the frequencies of alleles at the polymorphic sites of the genes IL-1beta (-511 C/T), IL-2 (-475 A/T and -631 G/A), PON1 (M55L), and UCP2 (-866 G/A).

Elemental composition of hair as a marker for forensic human identification.

BACKGROUND: Hair is one of the most common evidence types found in criminal investigations. Analysis of human hair reveals the mineral composition accumulated within it over time spent in a specific area, thereby providing additional information for forensic identification. MATERIALS AND METHODS: To identify patterns of the elemental composition of hair in territories with different natural and anthropogenic features, hair samples of 1238 residents and 217 corpses of Central Kazakhstan were studied. The determination of 14 chemical elements in hair by inductively coupled plasma atomic emission spectrometry were presented. The data were analysed in terms of place of residence, gender, age and condition. RESULTS: The results showed that the concentration of trace elements like Cu, Fe, Cd, and As significantly differed among all regions (p < 0.05). The composition of hair samples obtained from women significantly differed from those obtained from men for certain major and trace elements (p < 0.05). Concentrations of Ca and Mg in men were significantly lower than in women (p < 0.05) and were decreasing with age (p < 0.05). CONCLUSIONS: The present investigation revealed a relationship between the elemental composition of hair and the place of permanent residence of a person, formed under the influence of regional industrial complexes, and determining gender and age-related differences. These findings enhance the possibilities of forensic human identification.

The antibiotic knowledge, attitudes and behaviors of patients, doctors and pharmacists in the WHO Eastern European region - a qualitative, comparative analysis of the culture of antibiotic use in Armenia, Georgia, Kazakhstan, Moldova, Russia and Tajikistan.

BACKGROUND: To reduce antimicrobial resistance (AMR), initiatives such as surveillance activities and activities to increase knowledge about how and why antibiotics (ABs) are (mis)used are needed. More surveillance systems are in place in the WHO Western European region than in the Eastern region, and only sparse knowledge exists about the current culture of AB use in the Eastern European countries. OBJECTIVE: To investigate AB knowledge, attitudes and behaviors in countries in the WHO Eastern European region in order to identify overall similarities and differences across the region and how AB knowledge, attitudes and behavior patterns may be influenced by the national health care system. METHODS: Semi-structured interviews were conducted in Armenia, Georgia, Kazakhstan, Moldova, Russia and Tajikistan with patients, doctors and pharmacists. In total, 80 interviews were carried out. A directed content analysis was applied, followed by a comparative analysis, identifying the similarities and differences in AB attitudes, knowledge and behaviors between the countries and discussing how the national health care systems might influence these patterns. RESULTS: Cross-national patterns were identified regarding patients seeking ABs over-the-counter (OTC), patient variations in their requests for ABs when consulting doctors, and, finally, doctors and pharmacists appearing knowledgeable about ABs and their uses, with doctors displaying careful attitudes towards AMR. Indications of national differences between the countries included the ability of patients to afford ABs, prescribing practices of doctors and pharmacist attitudes towards selling ABs without prescriptions. Multiple aspects involved in patient and pharmacist AB decision making were detected, such as various rationales involved in buying/selling ABs OTC, implying that these processes are more complex than previously reported in the literature. CONCLUSIONS: Similarities across the Eastern European region could be seen in patient needs and uses of antibiotics obtained OTC at community pharmacies, whereas doctors appeared more influenced by specific structures of the national healthcare system.

Genetic variation of NEDD4L is associated with essential hypertension in female Kazakh general population: a case-control study.

BACKGROUND: Hypertension affects > 18.8% of adults in China. Indeed, hypertension is the most prevalent risk factor for cardiovascular morbidity and mortality worldwide. Genetic variation is thought to contribute to the etiology of hypertension. NEDD4L is a candidate gene for hypertension, both functionally and genetically. The purpose of the current study was to investigate the relationship between the variation in NEDD4L and essential hypertension in Kazakh, which is a relatively isolated population with a pure genetic background and is an ideal population to study genetic mechanisms of hypertension. METHODS: We screened the promoter and exons of NEDD4L in 94 Kazakh hypertensive individuals to identify representative variations. Then, by genotyping the representative variations in the Kazakh general population, a case-control study was conducted. RESULTS: By systemically screening variations of NEDD4L, we did not identify any functional mutations in NEDD4L. A new common variation (296921-296923delTTG), which is not found in the NCBI database, was identified. Three representative variations (296921-296923delTTG, rs2288774, and rs2288775) were successfully genotyped in the Kazakh general population. The distribution of the dominant model (AA vs. AG+GG) of rs2288775, the additive model, and the recessive model (II+ID vs. DD) of 296921-296923delTTG differed significantly between the cases and controls in females (P = 0.040, P = 0.024, and P = 0.007, respectively). After adjusting for confounding factors, logistic regression analysis showed that rs2288775 (in the dominant model) and 296921-296923delTTG (in the recessive model) were significantly associated with hypertension (rs2288775: OR = 1.479, 95% CI = 1.011-2.064, p = 0.044; and 296921-296923delTTG: OR = 1.908, 95% CI = 1.020-3.568, p = 0.043) in females. The frequency of the D-C-G haplotype was significantly higher for cases than for controls in females (P = 0.020). There was a significant interaction between the NEDD4L genotype and gender (P for interaction: 0.045 for rs2288775 and 0.064 for 296921-296923delTTG), but there was no significant interaction between the NEDD4L genotype and smoking (P for interaction: 0.616 for rs2288775 and 0.447 for 296921-296923delTTG). For females and total participants, the urinary Na excretion rate was significantly lower in the DD than the I/I+I/D individuals (P = 0.032 and P = 0.027 respectively). CONCLUSION: The genetic variations of NEDD4L may be associated with essential hypertension in females in the Kazakh general population.

The Health Needs of Female Labor Migrants from Central Asia in Russia.

There has been an increasing number of women migrating for work from Central Asia to Russia in recent years, yet very little is known about their specific health needs. We conducted a scoping study to understand what is known about their health and to identify the gaps and research priorities among this population. We conducted a literature review and key informant interviews. Our findings were grouped around general health issues, access to and utilization of health care services, and sexual and reproductive health concerns. Through our review, we identified the following priority research areas: stress, acculturation and process of adaptation; cultural and gender norms influencing health; contraceptive use and sexual risk behaviors; prenatal care; patient-provider communication and trust; use of informal health services; and preventative health care.

Impact of interactions among metabolic syndrome components on the development of cardiovascular disease among Kazakhs in Xinjiang.

BACKGROUND: Few prospective studies have explored the effect of interactions among metabolic syndrome (MS) components on the development of cardiovascular disease (CVD) in the Kazakh population in Xinjiang Province of China. METHOD: As of December 2016, 2,644 participants who completed a baseline survey over a period of 5 years or more were included in the study. The multiplicative interactions among MS components were evaluated by incorporation of the product terms into a logistic regression model. The additive interactions among MS components were evaluated by calculating the additive interaction index. Logistic regression was used to construct a predictive model, and CVD risk level was divided according to the risk probability of the population that did not eventually have CVD. RESULTS: When we analyzed the independent risk of MS and its components on developing CVD, only blood pressure(BP) and waist circumference(WC) were associated with CVD. A linear association was found between the risk of CVD, BP/WC, and the number of other components (trend, P<0.001). The risk of developing CVD increased when BP and WC coexisted, or when combined BP/WC with MS (≥3 components except for BP and WC) was present; however, there were no significant interactions among MS components. After the CVD hazards were divided into four levels, it was showed that over 19.92% of the incidence probability was in the population under mediate-risk while over 35.24% of them was in the high-risk group, respectively. CONCLUSIONS: BP and WC were independent risk factors for CVD in the Kazakh population. The risk of CVD was greatly increased when BP and WC coexisted or when combined BP/WC with MS (≥3 components except for BP and WC) was present, but no significant interactions were found among MS components.