Differences in gut microbiota and its metabolic function among different fasting plasma glucose groups in Mongolian population of China.

BACKGROUND: Many studies reported the association between gut microbiota and type 2 diabetes mellitus (T2D), but it is still unclear which bacterial genus plays a key role and how the metabolic function of gut microbiota changes in the occurrence and development of T2D. Besides, there is a high diabetic prevalence in Mongolian population, which may be partly affected by their high calorie diet. This study identified the main bacterial genus influencing T2D in Mongolian population, and analyzed the changes of metabolic function of gut microbiome. The association between dietary factors and the relative abundance of main bacterial genus and its metabolic function was also studied. METHODS: Dietary surveys and gut microbiota test were performed on 24 Mongolian volunteers that were divided into T2D (6 cases), PRET2D (6 cases) and Control group (12 cases) according to fasting plasma glucose (FPG) values. The relative abundance and metabolic function of gut microbiome from their fecal samples were measured by metagenomic analysis. Statistic method was used to evaluate the association between dietary factors and the relative abundance of the main bacterial genus or its metabolic function. RESULTS: This study found that the Clostridium genus may be one of the key bacterial genera affecting the process of T2D. First, the relative abundance of Clostridium genus was significantly different among the three groups. Second, there was a higher relative abundance of metabolic enzymes of gut bacteria in PRET2D and T2D group than that in Control group. Third, a strong correlation between Clostridium genus and many metabolic enzymes was uncovered, many of which may be produced by the Clostridium. Last, carotene intake daily was negatively correlated with the Clostridium but positively correlated with tagaturonate reductase catalyzing interconversions of pentose and glucuronate. CONCLUSIONS: The gut Clostridium genus may play an important role in the development of T2D and it could be a potential biomarker for T2D in Mongolian population. Meanwhile, the metabolic function of gut bacteria has changed during the early stage of T2D and the changes in carbohydrate, amino acid, lipid or energy metabolism of Clostridium genus may play a critical role. In addition, the carotene intake may affect reproduction and metabolic function of Clostridium genus.

Identification of novel candidate genes associated with non-syndromic tooth agenesis in Mongolian families.

OBJECTIVES: This study aimed to identify genetic variants associated with non-syndromic tooth agenesis (TA) in nine families from Mongolia using whole-exome sequencing (WES) and bioinformatics analysis. MATERIAL AND METHODS: The study enrolled 41 participants, including three inherited and six non-inherited families. WES analysis was performed on 14 saliva samples from individuals with non-syndromic TA. The potential candidate genes were identified through variant filtering and segregation analysis. The filtered variants were then analyzed in silico mutation impact analysis. RESULTS: WES analysis identified 21 variants associated with TA, and 5 of these variants met all filtering criteria. These variants were located in the exome region of MAST4, ITGA6, PITX2, CACNA1S, and CDON genes. The variant in PITX2 was found in eight participants from inherited and non-inherited families, while the MAST4 variant was identified in 6 participants from inherited families. CONCLUSIONS: The study identified various genetic variant candidates associated with TA in different family groups, with PITX2 being the most commonly identified. Our findings suggest that MAST4 may also be a novel candidate gene for TA due to its association with the Wnt signaling pathway. Additionally, we found that five candidate genes related to focal adhesion and calcium channel complex were significant and essential in tooth development. CLINICAL RELEVANCE: Identifying new pathogenic genes associated with TA can improve our understanding of the molecular mechanisms underlying the disease, leading to better diagnosis, prevention, and treatment. Early detection of TA based on biomarkers can improve dental management and facilitate orthodontic and prosthetic treatment.

Association of VEGFA polymorphisms with chronic obstructive pulmonary disease in Chinese Han and Mongolian populations.

NEW FINDINGS: What is the central question of this study? Vascular endothelial growth factor A (VEGFA) is an important growth factor involved in changes in the bronchial microvascular and airway inflammation in chronic obstructive pulmonary disease (COPD) progression. What is the association of single nucleotide polymorphisms (SNPs) in VEGFA with the risk of COPD in the Chinese Han and Mongolian populations? What is the main finding and its importance? The effect of five SNPs in the VEGFA gene was analysed and compared between the Chinese Han and Mongolian populations. A contribution of risk alleles rs833068, rs833070 and rs3024997 to COPD was detected in the Chinese Mongolian population only. The study provided data from different populations to validate the role of VEGFA polymorphisms in COPD and provided reliable SNPs to predict the risk of COPD. ABSTRACT: We attempted to define the associations between single nucleotide polymorphisms (SNPs) in the vascular endothelial growth factor A (VEGFA) gene and chronic obstructive pulmonary disease (COPD) in Chinese Han and Mongolian cohorts. Five SNPs were genotyped in cohorts of 684 COPD patients (350 Mongolian and 334 Han) and 784 healthy controls (350 Mongolian and 434 Han) using SNPscan multiplex PCR. SNP frequencies, genetic models and haplotypes were analysed using the chi-square test. The associations of SNPs with COPD and linkage disequilibrium were analysed using logistic regression and HaploView, respectively. We found that only rs833068G>A, rs833070T>C and rs3024997G>A were significantly associated with the risk of COPD in the Mongolian population (rs833068: P < 0.001, rs833070: P < 0.001, rs3024997: P = 0.002). In the analysis of genotype distributions, the A/A and G/A genotypes in rs833068 (A/A: odds ratio (OR) = 0.313, P < 0.001; G/A: OR = 0.724, P < 0.001) and rs3024997 (A/A: OR = 0.513, P = 0.008; G/A: OR = 0.671, P = 0.008) and the C/C and T/C genotypes in rs833070 (C/C: OR = 0.435, P = 0.007; T/C: OR = 0.593, P = 0.007) were associated with protection against COPD in the Mongolian population. The haplotype frequencies of GCCAT and GTCGC were significantly different between the patients and controls (GCCAT: P = 0.001; GTCGC: P < 0.001) in the Mongolian population. Our findings indicate that five SNPs in the VEGFA gene play divergent roles in the Han and Mongolian populations. rs833068A, rs833070C and rs3024997A were observed to be associated with the risk of COPD in the Mongolian population.

Characterization of a novel allelic variant in HLA-B*46:01 lineage, HLA-B*46:01:25, by cloning, phasing and sequencing.

A new allelic variant in HLA-B*46:01 lineage, HLA-B*46:01:25, has been identified in a male individual of Mongol ethnicity residing in northern China. Following polymerase chain reaction-sequence-based typing (PCR-SBT), this novel variant was further confirmed by cloning, phasing and sequencing. HLA-B*46:01:25 differs from HLA-B*46:01:01 by a single synonymous T substitution at nucleotide position 137 (C - T) in exon 4, corresponding to codon 228 (ACC-ACT) of the mature HLA-B mRNA molecule.

A new MICA allele, MICA*007:07, characterized by cloning and sequencing.

A new MICA allelic variant, MICA*007:07, was identified in an individual of Mongol ethnicity in the Inner Mongolia Autonomous Region, northern China. Following polymerase chain reaction-sequence-based typing (PCR-SBT), this new allele was further confirmed by cloning and sequencing. MICA*007:07 differs from MICA*007:01 by a synonymous mutation from G to A at the 2nd nucleotide position in exon 2. MICA*007:07 was linked to HLA-B*27:05.

Population genetics of 23 Y-STR loci in the Mongolian minority population in Inner Mongolia of China.

In this study, 23 Y chromosomal STRs (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a, DYS385b, DYS438, DYS439, DYS437, DYS448, DYS456, DYS458, DYS635, YGATAH4, DYS576, DYS481, DYS549, DYS533, DYS570, and DYS643) were investigated in 258 unrelated individuals of Mongolian descent living in the Inner Mongolia Autonomous Region. A total of 233 different haplotypes were found, and 209 of them were unique. Haplotype diversity was 0.9992 and gene diversity ranged from 0.4840 (DYS391) to 0.9679 (DYS385ab). Both R st pairwise analysis and multidimensional scaling plot showed that the genetic structure of the Mongolian population was significantly different from some Chinese ethnic groups and neighboring populations. It is notable that there were null features existing at DYS448 as observed by the PowerPlex® Y23 System, which could be also obtained by sequencing in the Tibetan population.

Smoking, heart rate, and ischemic stroke: a population-based prospective cohort study among Inner Mongolians in China.

BACKGROUND AND PURPOSE: Smoking is a major public health challenge and an important risk factor for cardiovascular diseases. No previous studies have evaluated the association among smoking, heart rate, and ischemic stroke in an Inner Mongolian population. We aim to evaluate the cumulative effect of smoking and heart rate on ischemic stroke incidence in this population. METHODS: A prospective cohort study from June 2003 through July 2012 was conducted among 2530 people ≥20 years of age from Inner Mongolia, China. We categorized the participants into 4 subgroups according to smoking status and heart rate. Cox proportional hazards models and receiver operating characteristic curves were used to evaluate the association among smoking, heart rate, and ischemic stroke. RESULTS: The multivariate-adjusted hazard ratios (95% confidence intervals) of ischemic stroke incidence for nonsmokers with heart rate ≥80 bpm, smokers with heart rate <80 bpm, and smokers with heart rate ≥80 bpm were 1.42 (0.62-3.28), 2.11 (1.06-4.23), and 2.86 (1.33-6.14), respectively, compared with nonsmokers with heart rate <80 bpm. The area under receiver operating characteristic curve (area under the curve) for a model containing smoking status and heart rate, along with conventional factors (area under the curve=0.755), was significantly (P=0.018) larger than the one containing only conventional factors (area under the curve=0.739). CONCLUSIONS: Our study indicated that smoking was an independent risk factor of ischemic stroke, and smokers with faster heart rate had the highest risk of ischemic stroke among Inner Mongolians. These findings suggest that smoking status and heart rate may be valuable in predicting ischemic stroke incidence.

Analysis of the difference in SLCO1B1 and APOE gene polymorphisms between Mongolian and Han populations.

Objective: To analyze SLCO1B1 and APOE polymorphisms and their clinical significance in the Mongolian and Han populations in Ordos, Inner Mongolia. Methods: Mongolian patients (n = 200) with cardiovascular disease admitted to our hospital from January 2018 to December 2020 were selected as the Mongolian population group. Han patients (n = 200) with cardiovascular diseases admitted during the same period were selected as the Han population group. Mutations in SLCO1B1 and APOE were detected by real-time fluorescence qPCR, and the differences between the two groups were analyzed. Results: The nucleotide polymorphisms of SLCO1B1 and APOE in the Mongolian and Han populations were consistent with the Hardy-Weinberg law. There were significant differences in gender, age, BMI, hypertension, alcohol consumption, dyslipidemia and low-density lipoprotein cholesterol levels between the two groups. APOE genotypes were classified according to those related to the efficacy of statins and the risk of atherosclerosis, and there was a significant difference between the two groups. Conclusion: There were differences in SLCO1B1 and APOE polymorphisms between the Mongolian and Han populations in Ordos. These may explain the differences in the incidence of cardiovascular diseases and the lipid-lowering efficacy of statins between the two populations.

Comparison of the role of HHIP SNPs in susceptibility to chronic obstructive pulmonary disease between Chinese Han and Mongolian populations.

The contribution of risk alleles to chronic obstructive pulmonary disease (COPD) may vary between populations. This study aimed to investigate the role of single nucleotide polymorphisms (SNPs) in HHIP on COPD susceptibility in the Chinese Mongolian and Han populations from Inner Mongolia autonomous region. In this case-control study, five SNPs in HHIP gene were detected in 700 COPD patients (350 Chinese Han and 350 Chinese Mongolian) and 700 healthy controls (350 Chinese Han and 350 Chinese Mongolian). The genotype, the association with COPD, and the differences between Chinese Han and Mongolian populations were evaluated using the chi-squared (χ2) test, genetic models, and logistic analysis. The minor allele C in SNP rs10519717 was associated with COPD in Mongolian (Odds ration (OR)=1.401, 95% confidence interval (CI): 1.110-1.769, P=0.044); however, not in the Han. The CC genotype in SNP rs10519717 was a risk factor for COPD in Mongolian (OR=2.667, 95% CI: 1.479-4.809, P=0.044); however, the TC genotype in Han played the same role (OR=1.396, 95% CI: 1.018-1.915, P=0.044). The GG genotype in SNP rs13147758 was protective in the Han (OR=0.546, 95% CI: 0.332-0.897, P=0.017). The homozygote of the minor alleles in SNPs rs12504628, rs1828591, and rs13118928 had a protective role in the both of COPD populations. For the minor allele distribution, the differences between the Han and Mongolian were presented only in the case group for rs12504628 (P=0.003), rs13147758 (P=0.002), rs1828591 (P=0.001), and rs13118928 (P=0.002); for the genotypes, differences was presented at the frequency of the minor allele homozygote in rs13147758 (P=0.048), rs10519717 (P=0.027), rs1828591 (P=0.041), and rs13118928 (P=0.044) in Mongolian. Our findings suggested that HHIP rs10519717 might be associated with susceptibility of Mongolian COPD. For the other SNPs, the differences between the two populations were represented by minor allele distribution and frequency of the minor allele homozygotes.

Risk factors for ischemic stroke among Mongolian population / Монголын Анагаах Ухаан

Background@#Stroke is a leading cause of death and disability, especially in low-income and middle-income countries and it impacts a tremendous medical, emotional and fiscal burden on society. Due to advances in Western healthcare, the prevalence of stroke since 1970 has decreased by 42%, whereas it has more than doubled in low-income to middle-income countries. </br> Stroke is a heterogeneous, multifactorial disease regulated by modifiable and nonmodifiable risk factors. Approximately 80% of stroke events could be prevented by making simple lifestyle modifications. In fact, nationwide characterization of well-known stroke factors in all social backgrounds is essential, however; populations can differ significantly not only in their socio-behavioral, legal, and geographical conditions, but also from other, historically understudied. Therefore, it is crucial to determine characterization of risk factors for ischemic stroke among Mongolian population.@*Objective@#To determine etiology and risk factors for ischemic stroke among Mongolian population@*Material and methods@#Our study was conducted by case-control study design. Cases were patients with acute first stroke; controls were matched with cases, recruited in a 1.2:1 ratio, for age and sex. The case series study was conducted in Stroke center of Third State Central hospital from January 2017 to December 2017. Structured questionnaires were administered and physical examinations were done in the same manner in cases and controls. Self-reported history of hypertension and diabetes mellitus or blood pressure of 140/90 mm Hg and blood sugar 6.4 mmol/L or higher was used to hypertension and diabetes mellitus, respectively. Smoking status was defined as never, former, or current smoker. Alcohol use was categorized into never or former, low intake, moderate intake, and high or episodic heavy intake. Atrial fibrillation was based on previous history, review of baseline electrocardiograph results (for cases and controls). Odds ratios (OR) and logistic regression were calculated, with 95% confidence intervals. @*Results@#In total, 173 patients with ischemic stroke and 146 controls were included. The patients’ age ranged from 17 to 92, the mean age was 61.2. Ischemic stroke more frequent in man than women by 27.4%. Previous history of hypertension or blood pressure of 140/90 mm Hg or higher (OR 2.40, 95% CI 1.48-3.88), diabetes mellitus (OR 3.08, 95% CI 1.44-6.57), hyperlipidemia (OR 5.09, 95% CI 2.64-9.82) atrial fibrillation (OR 8.70, 95% CI 2.01-37.64 ), current smoking (OR 2.07, 95% CI 1.26-3.40), alcohol consumption (OR 4.75, 95% CI 2.58-8.73) were all significantly associated with ischemic stroke. The mean age was lower in patients with stroke of other determined etiology. The frequency of hypertension was higher in patients with lacunar infarct than other subtypes. Smoking was high frequent in patients with large artery atherosclerosis.@*Conclusion@#6 potentially modifiable risk factors were collectively associated with ischemic stroke and were different among ischemic stroke subtypes. The odds ratios of these risk factors are higher than other countries’ study.

Results of investigation of lactate dehydrogenase activity in blood serum of mongolian population / Эрүүл мэндийн лаборатори

Abstract:The lactate dehydrogenase (LDH) enzyme is widely distributed in tissue, particularly heart, liver muscle, and kidney. The LDH in serum can be separated into five different isoenzymes based on their electrophoretic mobility. Each isoenzyme is a tetramer composed of two different subunits. These two subunits have been designated heart and muscle, based on their polypeptide chains. There are two homotetramers, LDH-1 and LDH-5, and three hybrid isoenzymes. Elevated serum levels of LDH have been observed in a variety of disease states. The highest levels are seen in patients with megaloblastic anemia, disseminated carcinoma, and shock. Moderate increases occur in muscular disorders, nephrotic syndrome, and cirrhosis. Mild increases in LDH activity have been reported in cases of myocardial or pulmonary infarction, leukemia, hemolytic anemia, and hepatitis.This study aims to compare a LDH activity in comparatively healthy Mongolian population using highly sensitivity modern technology and evaluate their contents with age, sex, and work adults differences, For this purpose there were chosen 3742 healthy adults (1597 males and 2145 females). The enzyme activity were investigated in Mobio laboratory using fully automated analyzer COBAS Integra-400. Study results were assessed using Microsoft Excel SPSS-10 standard program and evaluation.The study results show that mathematical mean of LDH activity of healthy Mongolian population is 322.6 u/l, quadratic mean of deviation is 44.9 u/l, and significant distribution is 187.2-442.6 u/l with p=0,99. The mathematical mean of LDH activity of healthy Mongolian man 187-444 u/l, but for women it is 187-438 u/l, with haven’t differences. The level LDH activity of healthy Mongolian population does not depend from age. The level LDH activity of healthy Mongolian population have differences from work adults.Conclusion:1.From the findings indicated LDH activity by 187.2-442.6 u/l.2.Study findings shown LDH activity level not influenced for age and sex.3.There fore we defined LDG activity level influenced physical and mental overload.

Results of investigation of lactate dehydrogenase activity in blood serum of mongolian population / Эрүүл мэндийн лаборатори

Abstract: The lactate dehydrogenase (LDH) enzyme is widely distributed in tissue, particularly heart, liver muscle, and kidney. The LDH in serum can be separated into five different isoenzymes based on their electrophoretic mobility. Each isoenzyme is a tetramer composed of two different subunits. These two subunits have been designated heart and muscle, based on their polypeptide chains. There are two homotetramers, LDH-1 and LDH-5, and three hybrid isoenzymes. Elevated serum levels of LDH have been observed in a variety of disease states. The highest levels are seen in patients with megaloblastic anemia, disseminated carcinoma, and shock. Moderate increases occur in muscular disorders, nephrotic syndrome, and cirrhosis. Mild increases in LDH activity have been reported in cases of myocardial or pulmonary infarction, leukemia, hemolytic anemia, and hepatitis. This study aims to compare a LDH activity in comparatively healthy Mongolian population using highly sensitivity modern technology and evaluate their contents with age, sex, and work adults differences, For this purpose there were chosen 3742 healthy adults (1597 males and 2145 females). The enzyme activity were investigated in Mobio laboratory using fully automated analyzer COBAS Integra-400. Study results were assessed using Microsoft Excel SPSS-10 standard program and evaluation. The study results show that mathematical mean of LDH activity of healthy Mongolian population is 322.6 u/l, quadratic mean of deviation is 44.9 u/l, and significant distribution is 187.2-442.6 u/l with p=0,99. The mathematical mean of LDH activity of healthy Mongolian man 187-444 u/l, but for women it is 187-438 u/l, with haven’t differences. The level LDH activity of healthy Mongolian population does not depend from age. The level LDH activity of healthy Mongolian population have differences from work adults. Conclusion: 1.From the findings indicated LDH activity by 187.2-442.6 u/l. 2.Study findings shown LDH activity level not influenced for age and sex. 3.There fore we defined LDG activity level influenced physical and mental overload.

Study of polymorphisms in autosomal microsatellite loci among mongolian population / Монголын Анагаах Ухаан

IndroductionThe short tandem repeats (STR) are rich source of highly polymorphic markers in the human genome. In this study, we used a commercially available multiplex STR typing kit to study 15 STR systems (D3S1358, THO1, D21S11, D18S51, Penta E, D5S818, D13S317, D7S820, D16S539, CSF1PO, Penta D, vWA, D8S1179, TPOX and FGA,) in the Mongolians population, and estimated the allele and genotype frequencies. These 15 STR loci include 2 new pentanucleotide repeat STR loci, Penta E and Penta D, so are not studied in Mongolians.GoalTo determine allele frequency of STR loci D3S1358, THO1,D21S11, D18S51, D5S818, D13S317, D7S820, D16S539, CSF1PO, vWA, D8S1179, TPOX, FGA Penta E, Penta D in Mongolian population.Materials and MethodsThe liquid blood, blood stain and saliva samples were taken from 165 unrelated individuals from Mongolian. Extraction DNA: Genomic DNA was extracted from whole blood samples by the standard method of phenol-chloroform-isoamyl alcohol and Wizard Genomic DNA Purification kit, Promega Corporation [21], from blood stain and saliva samples QIAamp DNA micro kit, Qiagen [25], AccuPrep Genomic DNA Extration kit, Bioneer, Koreans extraction method respectively.PCR: PCR amplification was performed using 10-15 ng genomic DNA template according to manufacturer’s protocol (PowerPlex® 16 and PowerPlex® 16HS kit, Promega Corporation, USA). Typing: DNA typing was performed on the ABI Prism 310 Genetic Analyzer (Applied Biosystems) using the recommended protocol. The results were analyzed by Data Collection (Version 1.1), GeneScan (Version 3.1), and Genotyper (Version 3.1) softwares (AppliedBiosystems).ResultsWe assessed forensic and population genetic studies using 15 STR loci included in s sample of 165 unrelated individuals from Mongolian. Allele frequency were listed in Table 2. Totally 20 alleles /5, 7-25/ were found from microsatellite Penta E locus and allele 11 has most frequent (0.1128). 6-16 alleles were found from Penta D locus and allele 9 has most frequent (0.3262). This result is interesting because allele 6 of Penta D locus was found rarely among other populations. But relatively higher frequency of allele 6 (0.0183) was found in Mongolian population. A population comparison based in genetic distance and genetic diversity calculated from allele frequencies of the 15 STR loci from obtained five different populations is shown the Table 3. Conclusions:1. Penta E locus was highly polymorphic, and 20 alleles were found in this Mongolians population and allele 11 was most frequent.2. Penta D locus was 20 alleles were found in this Mongolians population and allele 9 was most frequent.

Localization of Quantitative Trait Loci for Bone Mineral Density on Chromosome 13 in the Mongolian Population

Although the genetic basis for bone mineral density (BMD) has been studied by many groups so far, genes responsible for this complex trait has not been completely revealed. In order to localize quantitative trait loci (QTLs) for BMD variation in Asian population, the study was designed using a group of Mongolian population, a genetically closed population with a homogeneous lifestyle. BMD was measured at the left and right wrists and ankles using DEXA in 1,082 participants from 142 families. Genotyping of 13 polymorphic microsatellitemarkers on chromosome 13 (average spacing 8-9 cM) and two-point and multipoint linkage analysis wereperformed. In two-point linkage analysis, we identified two markers, D13S175 (6.03 cM) and D13S265 (68.73cM) that had LOD scores greater than 1 for left ankle (LOD=2.09, LOD=1.49, respectively). We also found a marker D13S175 (6.03 cM) with a high LOD for left wrist (LOD=1.49) and the markers D13S265 (68.73 cM) and D13S217 (17.21 cM) for the right wrist (LOD= 1.82, LOD= 1.62, respectively). Among these significant marker regions, only two regions at 17 cM (13p11) and 65 cM (13q21) for the right wrist overlapped with major QTLs reported in following multipoint linkage analysis (LOD= 1.7549, LOD=1.4462, respectively). This study provides the possible evidence of the presence of QTLs affecting right wrist BMD in Mongolian populations on 13p11 and 13q21. Modest evidence was also found for genes affecting left ankle and left wrist BMD on 13p13.