Genetic markers of type 2 diabetes in Russian population

2016 ◽  
Vol 62 (5) ◽  
pp. 10-11
Author(s):  
Ksenia A. Vakhromeeva ◽  
Ludmila A. Suplotova ◽  
Valery V. Nosikov

Introduction. Genetic susceptibility to Type 2 Diabetes (T2D) with a complex mode of inheritance is explained by the presence of multiple gene, each conferring a small moderate contribution the overall risk, as well as by alternative combinations of genes. Due to the success of Genome-Wide Association Study there has been rapid increase in the availability of genetic data for T2D. This allows the collection of large sets of genetic polymorphic loci, which could be key in the understanding of the genetic basis of T2D.The aim of this study was to determine alleles and allelic combinations that are associated with T2D phenotype.Methods. We assessed the associations of 96 single nucleotide polymorphisms (SNPs) linked with T2D different pathway components and carbohydrate metabolism abnormalities in 96 Russian patients and 96 normoglycemic controls using Illumina Golden Gate Genotyping Assay (low density DNA chip with 96 SNPs). T2D was defined according to the World Health Organization criteria, 1999. Data were analyzed with the free online statistical program named “Calculator for confidence intervals of odds ratio” (www.gen-exp.ru/calculator_or.php) and APSampler software (https://code.google.com/p/apsampler) for multi-locus association analysis.Results. On the first stage of the study we detected ten SNPs that can be independently contributing to T2D risk in the Russian cohort, they are rs8050136 (p=0,05) and rs11642841 (p=0,04) in FTO gene, rs2943641 (p=0,02) and rs2943634 (p=0,03) in IRS1 gene, rs571312 in MC4R gene, rs1470579 (p=0,04) in IGF2BP2 gene, rs163184(p=0,03) in KCNQ1 gene, rs11924032 (p=0,04) in SLC2A2 gene, rs11634397 (p=0,03) in ZFAND6 gene, rs7172432(p=0,04) in C2CD4A gene. On the second stage we found a biallelic combination of A allele rs8050136 in FTO gene and A allele rs7172432 in C2CD4R gene that was associated with T2D risk. Remarkable, the combined effect (association) of rs8050136 and rs7172432 was stronger (OR=1,97; p=0.006) than that of each SNP alone.Conclusion. The biallelic combination of A allele rs8050136 in FTO gene and A allele rs7172432 in C2CD4R gene can be used as a genetic marker of T2D.

Author(s):  
Charu Bansal ◽  
Rachna Jain ◽  
Umesh Shukla ◽  
Smita Paul

Diabesity term recently coined in medical field because of the very close epidemiological and pathogenic associations between central obesity and Type 2DM. Material and Methods: This review is based on data collected from published research works in various journals. Observations and Results: cited based on research reviews to find out risk odds of obesity and physical inactivity and initiation of type 2 diabetes with solutions based on improve physical activity. Conclusion: Counseling would be one of the best strategies to opt physical exercise with moderate and vigorous intensity recommended as world health organization as healthy behaviour to prevent and control of type 2 diabetes. Thus, Present write up is an effort to critically evaluate and assess the published research data on obesity and its association with development of type 2 diabetes and role of Physical exercises for prevention and control of type 2 DM as its solution with research evidences.


2016 ◽  
Vol 62 (5) ◽  
pp. 9 ◽  
Author(s):  
Zhanna R Balkhiyarova ◽  
Diana S Avzaletdinova ◽  
Tatyana V Morugova ◽  
Leisan F Sharipova ◽  
Margaret Amankwah-Poku ◽  
...  

Background. Obesity mainly caused by overeating is one of the most important risk factor of type 2 diabetes mellitus (T2DM). The aim of the present study was to investigate eating behavior types of patients with T2DM and obesity.Methods. We compared samples of patients with T2DM from the UK (N=113, 64 men) and Russia (N=200; 61 men) whom we asked to complete the Dutch Eating Behaviour Questionnaire (DEBQ). Mean age was 61.2±9.7 years old (range 39-85 years). Physical assessment included height, weight, body mass index and obesity degree according World Health Organization. Statistical analyses were performed using SPSS 21.0. Means (SD), 95% confidence interval (CI) were calculated.Results. One hundred seventy-nine patients were classified as obese (range 30.0 – 53.9). Mean values for restraint, emotional and external eating for this obese group were 2.8±0.07 (95% CI 2.7-3.0), 3.3±0.08 (95% CI 3.2-3.5) and 3.0±0.05 (95% CI 2.9-3.2), respectively. Russian patients showed higher levels of external eating (p<0.0001) and emotional eating (p<.0001) than their UK counterparts, but levels of restraint eating did not differ by country (p=0.30). HbA1c was significantly lower in the Russian patients compared to the UK patients (p=0.04). Multiple regression analysis showed that emotional eating, but not restraint or external eating was a significant predictor of BMI even when controlling for age, sex, HbA1c and country (β = 0.56; p < 0.0001; 95%CI 1.03-3.0)Conclusion. Present study has shown that emotional eating is an important correlate of BMI in patients with T2DM patients. However, eating behaviour styles may differ by country.


2011 ◽  
Vol 8 (1) ◽  
pp. 32-39 ◽  
Author(s):  
A V Kosygina

In recent decades, overweight and obesity have become a major problem for most countries. According to the World Health Organization (WHO), more than a billion people worldwide are overweight and more than 300 million are obese. These clinical and experimental studies highlight a clear relationship between obesity and several chronic diseases such as type 2 diabetes mellitus (T2DM), atherosclerosis, coronary heart disease, high risk of oncological diseases, disorders of the reproductive sphere, pathology of the musculoskeletal system, as well as deviations in mental status and processes of social adaptation. Therefore, considerable efforts of modern endocrinology focused on the study of etiopathogenetic aspects that underlie these diseases and identification of possible markers.


2019 ◽  
Vol 2019 ◽  
pp. 1-6 ◽  
Author(s):  
Kidist Reba ◽  
Bizuayehu Walle Birhane ◽  
Hordofa Gutema

Background. Although it is largely preventable, type 2 diabetes is the most common type and accounts for the vast majority of diabetes cases worldwide. Objective. To assess the validity and reliability of the Amharic version of the abbreviated World Health Organization Quality of Life (WHOQOL-BREF) instrument for measuring quality of life in people with diagnosed type 2 diabetes. Methods. The Amharic version of the abbreviated World Health Organization Quality of Life instrument was administered to 344 patients with diagnosed type 2 diabetes in Felege Hiwot Referral Hospital. Contribution of domain scores to QOL facets was assessed using multiple linear regression. Reliability assessment was done by using Cronbach’s alpha coefficient. Construct validity was examined using exploratory and confirmatory factor analyses. Result. The Amharic version of the abbreviated World Health Organization Quality of Life instrument has acceptable internal consistency. Confirmatory factor analysis has shown acceptable goodness of fit for 4 domain models. The physical, psychological, and environmental domains have a statistically significant contribution in explaining overall quality of life, while only physical and psychological domains have significant contribution in explaining the general health facet. Conclusion. The Amharic version of the abbreviated World Health Organization Quality of Life instrument is appropriate for patients with diagnosed type 2 diabetes. The overall finding of analysis implies that the Amharic version of the abbreviated World Health Organization Quality of Life instrument has internal consistency and validity to investigate quality of life among patients with diagnosed type 2 diabetes, and it can be used for studies which are going to be conducted in Ethiopia.


2022 ◽  
Vol 12 ◽  
Author(s):  
Sarah ElHajj Chehadeh ◽  
Noura S. Sayed ◽  
Hanin S. Abdelsamad ◽  
Wael Almahmeed ◽  
Ahsan H. Khandoker ◽  
...  

AimType 2 Diabetes Mellitus (T2DM) is associated with microvascular complications, including diabetic retinopathy (DR), diabetic nephropathy (DNp), and diabetic peripheral neuropathy (DPN). In this study, we investigated genetic variations and Single Nucleotide Polymorphisms (SNPs) associated with DR, DNp, DPN and their combinations among T2DM patients of Arab origin from the United Arab Emirates, to establish the role of genes in the progression of microvascular diabetes complications.MethodsA total of 158 Emirati patients with T2DM were recruited in this study. The study population was divided into 8 groups based on the presence of single, dual, or all three complications. SNPs were selected for association analyses through a search of publicly available databases, specifically genome-wide association study (GWAS) catalog, infinome genome interpretation platform, and GWAS Central database. A multivariate logistic regression analysis and association test were performed to evaluate the association between 83 SNPs and DR, DNp, DPN, and their combinations.ResultsEighty-three SNPs were identified as being associated with T2DM and 18 SNPs had significant associations to one or more diabetes complications. The most strongly significant association for DR was rs3024997 SNP in the VEGFA gene. The top-ranked SNP for DPN was rs4496877 in the NOS3 gene. A trend towards association was detected at rs833068 and rs3024998 in the VEGFA gene with DR and rs743507 and rs1808593 in the NOS3 gene with DNp. For dual complications, the rs833061, rs833068 and rs3024997 in the VEGFA gene and the rs4149263 SNP in the ABCA1 gene were also with borderline association with DR/DNp and DPN/DNp, respectively. Diabetic with all of the complications was significantly associated with rs2230806 in the ABCA1 gene. In addition, the highly associated SNPs rs3024997 of the VEGFA gene and rs4496877 of the NOS3 gene were linked to DR and DPN after adjusting for the effects of other associated markers, respectively.ConclusionsThe present study reports associations of different genetic polymorphisms with microvascular complications and their combinations in Emirati T2DM patients, reporting new associations, and corroborating previous findings. Of interest is that some SNPs/genes were only present if multiple comorbidities were present and not associated with any single complication.


2021 ◽  
Vol 21 ◽  
Author(s):  
Zijun Zhu ◽  
Xudong Han ◽  
Liang Cheng

: Type 2 diabetes mellitus (T2DM) is a chronic disease. The molecular diagnosis should be helpful for the treatment of T2DM patients. With the development of sequencing technology, a large number of differentially expressed genes were identified from expression data. However, the method of machine learning can only identify the local optimal solution as the signature. The mutation information obtained by inheritance can better reflect the relationship between genes and diseases. Therefore, we need to integrate mutation information to more accurately identify the signature. To this end, we integrated genome-wide association study (GWAS) data and expression data, combined with expression quantitative trait loci (eQTL) technology to get T2DM predictive signature (T2DMSig-10). Firstly, we used GWAS data to obtain a list of T2DM susceptible loci. Then, we used eQTL technology to obtain risk single nucleotide polymorphisms (SNPs), and combined with the pancreatic β-cells gene expression data to obtain 10 protein-coding genes. Next, we combined these genes with equal weights. After receiver operating characteristic (ROC), single-gene removal and increase method, gene ontology function enrichment and protein-protein interaction network were used to verify the results that showed that T2DMSig-10 had an excellent predictive effect on T2DM (AUC=0.99), and was highly robust. In short, we obtained the predictive signature of T2DM, and further verified it.


Cardiometabolic diseases, including obesity and Type-2 diabetes, are a growing concern and have become an epidemic worldwide. A World Health Organization (WHO) report, - ‘Global Prevalence of Type-2 diabetes’ estimates incidence of this disease, to be 9% among adults. An estimated 1.5 million death worldwide, were directly caused by diabetes. More than 80% of the Type-2 diabetes-related deaths occur in low-and middle-income countries. Worldwide in 2013, it was estimated that almost 400 million people suffer from diabetes, and this is supposed to reach a high of 600 million by 2035. According to the World Health Organization estimates, the impact of Type-2 diabetes-related health care expenditure, to prevent and manage diabetes and its clinical complications in the USA alone, was USD 360 billion in 2010 and will exceed 360 billion by 2030. WHO predicts losses in national income from Diabetes and Cardiovascular Disease (CVD) to be in equivalents of 557 billion in International Dollars (ID) in China, 303 billion in Russia, and 236 billion in India. Currently, there are 75 million diabetics in India and an equal number of pre-diabetics. The incidence of Type-2 diabetes in China also has reached epidemic proportions. Gulf Countries also have reported a high incidence of diabetes. One of the Global targets for diabetes management was to halt by 2025, the rise in the age-standardized adult prevalence of this disease, at its 2010 levels. However, according a recent publication in the Lancet (April 2016) by the NCD Risk Factor Collaboration, if the post-2000 trends continue in the increased incidence of type-2 diabetes, the probability of meeting the global target of halting the rise in the prevalence of diabetes by 2025 at the 2020 level worldwide is lower than 1% for men and women. Because of these observations, the best choice we have is, to go by the World Diabetes Federation recommendations, and manage the hyperglycemia efficiently. Besides, develop programs for early detection of altered glucose metabolism, and implement robust strategies for normalization of this altered state. In conclusion, through robust prevention programs, reduce the disease incidence, through better diagnostic tests, detect early risks that initiate or promote clinical complications, and by effective management of the risks, reduce or prevent acute events related to the end-organ failure.


Author(s):  
Kimberly To ◽  
Ruoqiong Cao ◽  
Aram Yegiazaryan ◽  
James Owens ◽  
Timothy Nguyen ◽  
...  

The World Health Organization (WHO) has identified type 2 diabetes (T2DM) as a neglected, important, and re-emerging risk factor for tuberculosis (TB), especially in low and middle-income countries where TB is endemic. In this clinical trial study, oral liposomal glutathione supplementation (L-GSH) or placebo was given to individuals with T2DM to investigate the therapeutic effects of L-GSH supplementation. We report that L-GSH supplementation for 3 months in people with T2DM was able to reduce the levels of oxidative stress in all blood components and prevent depletion of glutathione (GSH) in this population known to be GSH deficient. Additionally, L-GSH supplementation significantly reduced the burden of intracellular mycobacteria within in vitro granulomas generated from peripheral blood mononuclear cells (PBMCs) of T2DM subjects. L-GSH supplementation also increased the levels of Th1-associated cytokines, IFN-γ, TNF-α, and IL-2 and decreased levels of IL-6 and IL-10. In conclusion our studies indicate that oral L-GSH supplementation in individuals with T2DM for three months was able to maintain the levels of GSH, reduce oxidative stress, and diminish mycobacterial burden within in vitro generated granulomas of diabetics. L-GSH supplementation for 3 months in diabetics was also able to modulate the levels of various cytokines.


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