المؤلفون: Monica Lopes de Assunção, Nancy Borges Rodrigues Vasconcelos, Haroldo da Silva Ferreira, Abel Barbosa Lira Neto, Luisa Elvira Cavazzani Duarte, Carolinne Sales-Marques, Tamara Rodrigues dos Santos

المصدر: BMC Research Notes, Vol 14, Iss 1, Pp 1-8 (2021)
BMC Research Notes

مصطلحات موضوعية: 0301 basic medicine, Nos3 gene, medicine.medical_specialty, Science (General), Genotype, Nitric Oxide Synthase Type III, QH301-705.5, African descent, IGFBP3, 030204 cardiovascular system & hematology, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, IGFBP3 human protein, 03 medical and health sciences, Q1-390, 0302 clinical medicine, Polymorphism (computer science), Internal medicine, Prevalence, medicine, Humans, Genetic Predisposition to Disease, Risk factor, Biology (General), African Continental Ancestry Group, business.industry, Nitric oxide synthase, General Medicine, Population based study, Research Note, Insulin-Like Growth Factor Binding Protein 3, 030104 developmental biology, Oxidative stress, Hypertension, Medicine, Female, business, Transcription Factor 7-Like 2 Protein, TCF7L2, Brazil

الوصف: Background: African ancestry seems to be a risk factor for hypertension; however, few genetic studies have addressed this issue. This study aimed to investigate the prevalence of polymorphisms NOS3; rs1799983, IGFBP3; rs11977526 and TCF7L2; rs7903146 in Brazilian women of African descent and their association with hypertension.Methods: This is a cross-sectional study with a sample of 1021 women (19–59 years old) from the quilombola communities of Alagoas (Brazil). Demographic, socioeconomic, lifestyle, anthropometric, biochemical, and blood pressure data were collected. DNA was extracted from mucosa epithelial cells of the participants’ cheek. Genotyping was performed by PCR allelic discrimination. Prevalence ratio (PR) was the measure of association, calculated by Poisson regression, with a hierarchical selection of variables.Results: The prevalences of the less frequent genotypes were 26.5% TT genotype of NOS3; rs1799983, 16.7% AA genotype of IGFBP3; rs11977526, and 18.3% TT genotype of TCF7L2; rs7903146. For these conditions, the prevalence of hypertension and PR (adjusted) relatively to the ancestral genotype were, respectively: 52.0% vs 24.5% (PR=1.54; pp<0.001), and 38.9% vs 27.9% (PR=0.86; p=0.166). Associations with hypertension were statistically significant, except for the TCF7L2; rs7903146 polymorphism, after adjusted analysis. Conclusions: Brazilian Afro-descendant women with the TT genotype for the NOS3 gene and the AA genotype for the IGFBP3 gene are more susceptible to hypertension. The understanding of underlying mechanisms involving the pathogenesis of hypertension can motivate research for the development of new therapeutic targets related to nitric oxide metabolism and the management of oxidative stress.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ad69ee6d29dfecbe4c56170e42882b84Test
https://doaj.org/article/37eb55dd169e482bbcd9be3820386fa1Test

المؤلفون: Taha Hameed, Hasan Ejaz, Muhammad Imran, Saif Ali, Abdullah Abdo Albegali, Zahid Hussain Khan, Muhammad Ikram Ullah

المصدر: African Health Sciences

مصطلحات موضوعية: Adult, Blood Glucose, Male, medicine.medical_specialty, endocrine system diseases, Population, T2DM, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, Single nucleotide Polymorphism (SNPs), Polymorphism (computer science), Internal medicine, Genetic model, Genotype, medicine, Humans, Genetic Predisposition to Disease, Pakistan, education, Genetic association, education.field_of_study, business.industry, nutritional and metabolic diseases, Articles, General Medicine, Middle Aged, medicine.disease, TCF7L2, Khyber Pakhtunkhwa, Endocrinology, Diabetes Mellitus, Type 2, Female, ARMS-PCR, Metabolic syndrome, business, Transcription Factor 7-Like 2 Protein

الوصف: Background: Type 2 diabetes mellitus (T2DM) is the most prevalent component of metabolic syndrome. Environmental factors and various complex genes like transcription factor 7-like 2 (TCF7L2) gene have involved in the disease development. Objective: To determine TCF7L2 genetic association (rs7903146C/T and rs12255372G/T) in T2DM patients of Khyber Pakhtunkhwa population of Pakistan. Subjects and methods: This study comprised of 176 subjects including 118 T2DM patients and 58 healthy controls. Genomic DNA was extracted and genotype of common variants (rs7903146 C/T and rs12255372 G/T) was carried out by amplification-refractory mutation system (ARMS)-PCR of sequence specific oligonucleotides. Results: The distribution of genotype of TCF7L2 SNPs (rs7903146 C/T and rs12255372 G/T) was significantly associated with T2DM as compared to the controls (p

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aa02d36197d3ac3526bf1e04784c8bbTest
https://doi.org/10.4314/ahs.v21i1.4Test

المؤلفون: Mithun Das, Riddhi Goswami, Plaban Chaudhuri, Indrani Lodh

المصدر: Public Health Genomics. 24:131-138

مصطلحات موضوعية: Adult, medicine.medical_specialty, Population, Type 2 diabetes, Polymorphism, Single Nucleotide, Pregnancy, Risk Factors, Diabetes mellitus, Humans, Medicine, Genetic Predisposition to Disease, Family history, education, Genotyping, Genetics (clinical), education.field_of_study, Polymorphism, Genetic, business.industry, Obstetrics, Infant, Newborn, Public Health, Environmental and Occupational Health, Type 2 Diabetes Mellitus, medicine.disease, PPAR gamma, Gestational diabetes, Diabetes Mellitus, Type 2, Female, business, Transcription Factor 7-Like 2 Protein, TCF7L2

الوصف: Introduction: Women with family history of diabetes (FHD) are at significantly increased risk of developing gestational diabetes mellitus which may eventually lead to type 2 diabetes mellitus (T2DM) in later life. Objective: This study investigates the role of FHD on metabolic markers and gene polymorphisms and hence on T2DM susceptibility in nondiabetic pregnant women and the subsequent risks in their newborns. Materials and Methods: The present study was conducted on 200 healthy (nondiabetic and normotensive) adult Asian Indian women, including 100 with and 100 without FHD, living in and around Kolkata, India. During the gestational period, they were studied twice and followed up till delivery. During delivery, both mothers’ venous blood and cord blood were collected to estimate serum CRP, glucose, and lipid profiles of the respective mothers and their newborns. Genotyping of PPARγ and TCF7L2 polymorphisms was done from these blood samples. Results: A comparison of the metabolic variables among the subjects with and without FHD revealed significant differences among them. We also found close relationship between mothers and their newborn babies in terms of both PPARγ (rs1801282) C/G and TCF7L2 (rs7903146) C/T polymorphisms. More specifically, genotyping results for mothers with FHD and their newborn babies showed high concordance in inheritance of alleles: (i) for PPARγ via the risk allele G (74.0%) which is carried over to the newborn babies (64.5%) and (ii) for TCF7L2 via the risk allele T (73.0%) which is carried over to the newborn babies (68.5%). Conclusion: This study leads to the conclusion that Asian Indian women population based in Kolkata, India, are ethnically and genetically predisposed to the risk factors of diabetes through FHD, which is reflected in their gestational phase, and it has a significant implication on their birth outcomes.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5ea6612affe8aec76248dbd6eb99a54Test
https://doi.org/10.1159/000514506Test

المؤلفون: S. K. Maljutina, O D Rymar, S V Mustafina, M. Ju. Shapkina, A. A. Ivanova, Vladimir N. Maksimov, Martin Bobak, M I Voevoda, E. S. Mel’nikova

المصدر: Терапевтический архив, Vol 92, Iss 10, Pp 40-47 (2020)

مصطلحات موضوعية: Male, 0301 basic medicine, History, endocrine system diseases, type 2 diabetes mellitus, Endocrinology, Diabetes and Metabolism, lcsh:Medicine, rs6773957, 0302 clinical medicine, single nucleotide polymorphism, Prospective Studies, rs1799883, education.field_of_study, tcf7l2, rs2237892, General Medicine, Middle Aged, rs7903146, risk meter, KCNQ1 Potassium Channel, Female, Adiponectin, adipoq, Family Practice, Transcription Factor 7-Like 2 Protein, endocrine system, medicine.medical_specialty, Diabetes risk, Genotype, Population, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Fatty Acid-Binding Proteins, Polymorphism, Single Nucleotide, kcnq1, 03 medical and health sciences, Internal medicine, Diabetes mellitus, medicine, Humans, Genetic Predisposition to Disease, fabp2, education, Genotyping, business.industry, lcsh:R, Type 2 Diabetes Mellitus, nutritional and metabolic diseases, medicine.disease, 030104 developmental biology, Diabetes Mellitus, Type 2, Case-Control Studies, Relative risk, prognosis, business, TCF7L2

الوصف: To study the possibility of using polymorphisms of genesTCF7L2,FABP2,KCNQ1,ADIPOQas markers for predicting the development of type 2 diabetes mellitus (T2D) in the population of Novosibirsk.On the basis of prospective observation of a representative population sample of residents of Novosibirsk (HAPIEE), 2 groups were formed according to the case-control principle (case people who had diabetes mellitus 2 over 10 years of observation, and control people who did not developed disorders of carbohydrate metabolism). T2D group (n=443, mean age 56.26.7 years, men 29.6%, women 70.4%), control group (n=532, mean age 56.17.1 years, men 32.7%, women 67.3%). DNA was isolated by phenol-chloroform extraction. Genotyping was performed by the method of polymerase chain reaction with subsequent analysis of restriction fragment length polymorphism, polymerase chain reaction in real time. Statistical processing was carried out using the SPSS 16.0 software package.No significant effect of rs1799883 of theFABP2gene, rs2237892 of theKCNQ1gene, and rs6773957 of theADIPOQgene on the risk of developing T2D was found. Genotypes TT and TC rs7903146 of theTCF7L2gene are genotypes for the risk of developing T2D (relative risk RR 3.90, 95% confidence interval CI 2.316.61,p0.001; RR 1.86, 95% CI 1.422.43,p0.001, respectively). The CC genotype rs7903146 of theTCF7L2gene is associated with a protective effect against T2D (RR 0.37, 95% CI 0.290.49,p0.001). When theTCF7L2gene is included in the model for assessing the risk of developing T2D rs7903146, it retains its significance in both men and women.The rs7903146 polymorphism of theTCF7L2gene confirmed its association with the prognosis of the development of T2D, which indicates the possibility of considering it as a candidate for inclusion in a diabetes risk meter. Variants of risk meters have been developed to assess the prognosis of the development of diabetes mellitus 2 in men and women aged 4569 years during 10 years of follow-up. The association with the prognosis of the development of T2D polymorphisms rs1799883 of theFABP2gene, rs2237892 of theKCNQ1gene and rs6773957 of theADIPOQgene was not found.Цель.Изучить возможность использования в популяции г. Новосибирска в качестве маркеров прогноза развития сахарного диабета 2-го типа (СД 2) полиморфизмов геновTCF7L2,FABP2,KCNQ1,ADIPOQ. Материалы и методы.На основе проспективного наблюдения репрезентативной популяционной выборки жителей Новосибирска (HAPIEE) сформированы 2 группы по принципу случайконтроль (случай лица, у которых за 10 лет наблюдения выявлен СД 2, и контроль лица, у которых за 10-летний период не развились нарушения углеводного обмена). Группа СД 2 (n=443, средний возраст 56,26,7 года, мужчины 29,6%, женщины 70,4%), группа контроля (n=532, средний возраст 56,17,1 года, мужчины 32,7%, женщины 67,3%). ДНК выделена методом фенол-хлороформной экстракции. Генотипирование выполнено методом полимеразной цепной реакции с последующим анализом полиморфизма длин рестрикционных фрагментов, полимеразной цепной реакции с обратной транскрипцией. Статистическая обработка проведена с использованием программного пакета SPSS 16.0. Результаты и обсуждение.Не обнаружено значимого влияния rs1799883 генаFABP2, rs2237892 генаKCNQ1и rs6773957 генаADIPOQна риск развития СД 2. Генотипы ТТ и TC rs7903146 генаTCF7L2являются генотипами риска развития СД 2 (относительный риск ОР 3,90, 95% доверительный интервал ДИ 2,316,61,р0,001; ОР 1,86, 95% ДИ 1,422,43,р0,001 соответственно). Генотип СС rs7903146 генаTCF7L2ассоциирован с протективным эффектом в отношении СД 2 (ОР 0,37, 95% ДИ 0,290,49,р0,001). При включении в модель оценки риска развития СД 2 rs7903146 генаTCF7L2он сохраняет свою значимость и у мужчин, и у женщин. Заключение.Полиморфизм rs7903146 генаTCF7L2подтвердил свою ассоциацию с прогнозом развития СД 2, что указывает на возможность его рассмотрения в качестве кандидата на внесение в рискометр СД 2. Разработаны варианты рискометров для оценки прогноза развития СД 2 у мужчин и женщин в возрасте 4569 лет в течение 10 лет наблюдения. Ассоциация с прогнозом развития СД 2 полиморфизмов rs1799883 генаFABP2, rs2237892 генаKCNQ1и rs6773957 генаADIPOQ не обнаружена.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5c99e8dbba13b616ea2e451c27c12e26Test
https://ter-arkhiv.ru/0040-3660/article/viewFile/50975/34464Test

المؤلفون: Reijo Laaksonen, Günay Can, Mika Kähönen, Evrim Komurcu-Bayrak, Ayse Berna Yuzbasıogulları, Altan Onat, Nihan Erginel-Unaltuna, Nina Mononen, Terho Lehtimäki

المساهمون: İÜC, Cerrahpaşa Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tampere University, Clinical Medicine, Department of Clinical Chemistry, Department of Clinical Physiology and Nuclear Medicine

المصدر: Anatolian Journal of Cardiology, Vol 24, Iss 5, Pp 326-333 (2020)
Anatolian Journal of Cardiology

مصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, endocrine system, lcsh:Diseases of the circulatory (Cardiovascular) system, Turkey, endocrine system diseases, Type 2 diabetes, Coronary Artery Disease, tarf study, 3121 Internal medicine, White People, Internal medicine, Diabetes mellitus, Genotype, medicine, Humans, Genetic Predisposition to Disease, Allele, Risk factor, coronary heart disease, Original Investigation, variants, business.industry, tcf7l2, Haplotype, Gender Identity, nutritional and metabolic diseases, Fasting, Middle Aged, medicine.disease, 3126 Surgery, anesthesiology, intensive care, radiology, Obesity, TCF7L2, Diabetes Mellitus, Type 2, lcsh:RC666-701, Female, type 2 diabetes, Cardiology and Cardiovascular Medicine, business, TARF study, Transcription Factor 7-Like 2 Protein

الوصف: WOS:000583273800010 PubMed ID: 33122478 Objective: TCF7L2 is a repressor and transactivator of genes, and its variants are strongly associated with diabetes. This study aimed to evaluate the sex-specific relationship between the most common TCF7L2 gene variants (-98368G>T, rs12255372 and -47833C>T, rs7903146) with diabetes and coronary heart disease in Turkish Adult Risk Factor (TARF) Study. Methods: Single nucleotide variants (SNVs) have been genotyped using the TaqMan allelic discrimination assays in 2,024 (51.3% in women, age: 55 +/- 11.8) Turkish adults participating in the TARF study. Statistical analyses were used to investigate the association of genotypes with clinical and biochemical measurements. Results: Among the TARF study participants, 11.7%, 24.3%, 14.1%, and 38.3% had diabetes, hypertension, coronary heart disease (CHD), and obesity, respectively. The frequencies of T allele for -47833C>T and -98368G>T in Turkish adults were determined to be 0.35 and 0.33, respectively. -47833C>T was significantly associated with higher fasting glucose concentrations in all participants, especially in men. Both SNVs were significantly associated with diabetes and CHD in all participants (pT was associated with diabetes in women (p=0.041) and -47833C>T was associated with diabetes and CHD in men (p=0.018 and p=0.032, respectively). Also, both SNVs and the diplotypes of common haplotype (H1) remained strongly associated with type 2 diabetes after risk factors were adjusted (p

وصف الملف: application/pdf; fulltext

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::53b706f5830b654738cd260c0d410365Test
https://jag.journalagent.com/z4/download_fulltext.asp?pdir=anatoljcardiol&un=AJC-57736Test

المؤلفون: Satyavani Kumpatla, Vijay Viswanathan, Rizwana Parveen, Udyama Juttada

المصدر: International Journal of Biological Macromolecules. 159:402-405

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Diabetes risk, Genotype, endocrine system diseases, 02 engineering and technology, Type 2 diabetes, Polymorphism, Single Nucleotide, Biochemistry, 03 medical and health sciences, Gene Frequency, Structural Biology, Internal medicine, Diabetes mellitus, Odds Ratio, Humans, Medicine, Body Weights and Measures, Genetic Predisposition to Disease, Registries, Family history, Medical History Taking, Molecular Biology, Genotyping, Alleles, Genetic Association Studies, Aged, 030304 developmental biology, 0303 health sciences, business.industry, nutritional and metabolic diseases, General Medicine, Middle Aged, 021001 nanoscience & nanotechnology, medicine.disease, Diabetes Mellitus, Type 2, Female, Gene polymorphism, 0210 nano-technology, business, Transcription Factor 7-Like 2 Protein, TCF7L2, Biomarkers

الوصف: The greatest risk of developing type2 diabetes (T2DM) was conferred by rs7903146 SNP of Transcription factor7-like2 (TCF7L2) gene in many ethnic populations. The aim was to investigate the association of TCF7L2 (rs7903146) gene polymorphism among newly diagnosed diabetes subjects with different parental diabetes registry. A total of 171 subjects were categorized into 3 groups based on parental diabetes registry i.e. Conjugal Diabetes Registry (CDR) (n = 50), One Parental Diabetes Registry (OPDR) (n = 56) and Non Parental Diabetes Registry (NPDR) (n = 62) (control group). Kompetitive allele specific PCR (KASP) genotyping assay was used in real time PCR for identifying the genotypes. None of the biochemical parameters showed any significant difference between groups except age at onset of diabetes (p = 0.001). The T allele of TCF7L2 (rs7903146) was associated with significant risk of diabetes. TT genotype which doubles the diabetes risk showed significant association among OPDR whereas in CDR both CT and TT genotypes showed significant association than CC wild type. The ‘T’ allele of TCF7L2 SNP was associated with significant risk when compared between OPDRvsNPDR (OR 2.45, p = 0.003) and CDRvsNPDR (OR 2.82, p = 0.0007). In conclusion, TCF7L2 gene polymorphism and positive family history of diabetes are strongly associated irrespective of the presence of other risk factors among diabetes subjects.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f65d8b3cb02f98c5db590147f5204312Test
https://doi.org/10.1016/j.ijbiomac.2020.04.240Test

المؤلفون: Brittany Galuppo, Bridget Pierpont, Sonia Caprio, Nicola Santoro, Domenico Tricò, Stephanie Samuels, Veronika Shabanova, Chiara Dalla Man, Alfonso Galderisi

المصدر: Diabetes Care. 43:2553-2563

مصطلحات موضوعية: Male, Pediatric Obesity, endocrine system, medicine.medical_specialty, Adolescent, Genotype, Arginine, Endocrinology, Diabetes and Metabolism, Incretin, 030209 endocrinology & metabolism, Incretins, Impaired glucose tolerance, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Insulin-Secreting Cells, Internal medicine, Diabetes mellitus, Glucose Intolerance, Insulin Secretion, Internal Medicine, medicine, Humans, Insulin, 030212 general & internal medicine, Polymorphism, Alleles, Advanced and Specialized Nursing, Glucose tolerance test, medicine.diagnostic_test, business.industry, Area under the curve, Pancreatic Diseases, Single Nucleotide, Glucose Tolerance Test, medicine.disease, Biomarkers, Early Diagnosis, Female, Insulin Resistance, Polymorphism, Single Nucleotide, Transcription Factor 7-Like 2 Protein, Endocrinology, business, TCF7L2, hormones, hormone substitutes, and hormone antagonists

الوصف: OBJECTIVE The risk genotype for the common variant rs7903146 of the transcription factor 7-like-2 (TCF7L2) gene has been found to affect the incretin response in healthy and obese adults; however, whether a similar functional defect is also present in obese adolescents remains unexplored. Herein, we examined the functional effect of the rs7903146 variant in the TCF7L2 gene on the incretin effect and determined its translational metabolic manifestation by performing deep phenotyping of the incretin system, β-cell function relative to insulin sensitivity, the gastrointestinal-induced glucose disposal (GIGD) in obese youth with normal and impaired glucose tolerance. RESEARCH DESIGN AND METHODS Thirty-nine obese adolescents without diabetes (median age 15 [25th, 75th percentile 14, 18] years; BMI 37 [33, 43] kg/m2) were genotyped for the rs7903146 variant of TCF7L2 and underwent a 3-h oral glucose tolerance test (OGTT) followed by an isoglycemic intravenous glucose infusion (iso-intravenous glucose tolerance test [IVGTT]) to match the plasma glucose concentrations during the OGTT and a hyperglycemic clamp with arginine stimulation. The incretin effect was measured as 100 * (AUC-SROGTT − AUC-SRiso-IVGTT) / AUC-SROGTT, where AUC-SR = area under the curve of C-peptide secretion rate. Participants were grouped into tertiles according to the percentage incretin effect (high, moderate, and low) to describe their metabolic phenotype. RESULTS The presence of T risk allele for TCF7L2 was associated with a markedly reduced incretin effect compared with the wild-type genotype (0.3% [−7.2, 14] vs. 37.8% [12.5, 52.4], P < 0.002). When the cohort was stratified by incretin effect, the high, moderate, and low incretin effect groups did not differ with respect to anthropometric features, while the low incretin effect group exhibited higher 1-h glucose (P = 0.015) and a reduced disposition index, insulin sensitivity, and insulin clearance compared with the high incretin effect group. GIGD was reduced in the low incretin effect group (P = 0.001). The three groups did not differ with respect to intravenous glucose-induced insulin secretion and arginine response during the hyperglycemic clamp. CONCLUSIONS A reduced incretin effect and its association with the TCF7L2 variant rs7903146 identify an early metabolic phenotype in obese youth without diabetes, featuring a higher plasma glucose peak at 1 h; lower insulin secretion, sensitivity, and clearance; and GIGD.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::eb71fe6a7b9c0682febecebe67c4362dTest
https://doi.org/10.2337/dc20-0445Test

المؤلفون: Magdy M. Youssef, Rasha Elzehery, Maha Shahin, Hadeel Ahmed Shawki, Ekbal M. Abo-Hashem

المصدر: Ophthalmic Genetics. 41:420-426

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Adolescent, Genotype, 030105 genetics & heredity, Bioinformatics, Polymorphism, Single Nucleotide, Transcription Factor 7-Like 2, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Humans, Medicine, Genetic Predisposition to Disease, Genetics (clinical), Aged, Diabetic Retinopathy, business.industry, Diabetic retinopathy, Middle Aged, medicine.disease, Ophthalmology, Diabetes Mellitus, Type 2, Case-Control Studies, Pediatrics, Perinatology and Child Health, 030221 ophthalmology & optometry, Egypt, Female, Gene polymorphism, business, Transcription Factor 7-Like 2 Protein, TCF7L2

الوصف: Diabetic retinopathy (DR) is one of the most common diabetic complications. Genetic factors play an important role in the development and progression of DR. So, the present study aimed to investigate the association ofThis work is a case-control study in which 550 diabetic patients were enrolled. Among them, 280 diabetics with DR (120 T1DM and 160 with T2DM) and 270 diabetic patients without DR (120 T1DM and 150 with T2DM). Besides, 120 healthy subjects as a control group. Genotyping ofC allele and CC genotype ofThe present study revealed the association of

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab2d680f82db43ee381e497b702cd22fTest
https://doi.org/10.1080/13816810.2020.1780620Test

المؤلفون: Soha Hamed Ammar, Randa Salam, Normeen Hany Rady, Alshaimaa Rezk L R Alnaggar, Nashwa S. Ghanem, Marianne F. Morgan

المصدر: Current Diabetes Reviews. 16:370-375

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Genotype, endocrine system diseases, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Single-nucleotide polymorphism, Type 2 diabetes, Polymorphism, Single Nucleotide, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Gene Frequency, Internal medicine, medicine, Humans, Diabetic Nephropathies, Genetic Predisposition to Disease, Allele, Allele frequency, business.industry, Type 2 Diabetes Mellitus, medicine.disease, 030104 developmental biology, Diabetes Mellitus, Type 2, Gene polymorphism, business, Transcription Factor 7-Like 2 Protein, TCF7L2

الوصف: Background: The exact relationship between the different TCF7L2 gene polymorphisms and the development of diabetic nephropathy (DN) remains unclear. Objective: To investigate the association of TCF7L2 rs12255372 (G/T) gene polymorphism and diabetic nephropathy (DN) in patients with type 2 diabetes (T2D). Methods: 100 patients with T2D (50 patients without DN and 50 patients with DN) and 50 age and sex-matched healthy controls (HC) were enrolled in the study. Genotyping for the rs12255372 (G>T) polymorphism in the TCF7L2 gene was performed by real-time PCR. Results: The rs12255372 polymorphism showed a statistically significant difference between HC and patients with and without DN in both the genotype and allele frequency. However, the rs12255372 polymorphism genotype or allele frequency was not statistically different between patients with DN and those patients without DN. The G allele was found to be higher in patients and the T allele was higher in HC suggesting that the G allele was the risk allele for developing T2D &DN and that the T allele was protective. Conclusion: rs12255372 TCF7L2 gene polymorphism was strongly associated with type 2 diabetes mellitus and DN. The association between rs12255372 polymorphism and DN was a mere reflection of a complicated diabetes mellitus rather than a direct independent association.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::449ebbb8d34aa1e2fa3452cdc8e5d09aTest
https://doi.org/10.2174/1573399815666190709182713Test

المؤلفون: Jinjin Wang, Yuanyuan Shi, Linlin Li, Chongjian Wang, Yuqian Li, Wen Zhou, Zhiguang Ping, Lulu Zhang

المصدر: Clinical Nutrition. 39:192-197

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, China, medicine.medical_specialty, Waist, endocrine system diseases, 030209 endocrinology & metabolism, Type 2 diabetes, Overweight, Critical Care and Intensive Care Medicine, Polymorphism, Single Nucleotide, Body Mass Index, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Abdominal obesity, Aged, Aged, 80 and over, 030109 nutrition & dietetics, Nutrition and Dietetics, business.industry, Absolute risk reduction, nutritional and metabolic diseases, Middle Aged, medicine.disease, Obesity, Endocrinology, Diabetes Mellitus, Type 2, Case-Control Studies, Female, Waist Circumference, medicine.symptom, business, Transcription Factor 7-Like 2 Protein, Body mass index, TCF7L2

الوصف: Type 2 diabetes (T2D) is a complex metabolic disease with numerous risk factors, including a growing number of genetic susceptibility variants. The TCF7L2 gene is closely associated with an increased risk of type 2 diabetes, but the association of TCF7L2 with weight-related traits in humans is unclear. The purpose of this study was to determine if TCF7L2 variants and body mass index/waist circumference (BMI/WC) act synergistically to influence the incidence of type 2 diabetes in a Chinese population.This is a large sample, case-control study. We recruited 1842 Chinese type 2 diabetes patients and 7777 healthy controls and collected demographic and anthropometric characteristics and blood samples. We extracted DNA and genotyped the TCF7L2 single nucleotide polymorphisms rs7903146 and rs290487 in all participants.There were significant linear interactions between rs7903146 and BMI/WC and elevated blood glucose (P 0.001); rs290487 and BMI/WC also showed a linear interaction with blood glucose levels (P 0.001). The interaction was stronger at higher BMI (21.02) and higher WC (66.77 cm). The additive interaction of rs 290487 and overweight/obesity variables yielded a significant increase in the risk for T2D. RERI (relative excess risk of interaction) was 2.949 (95%CI: 1.700-4.198), AP (attributable proportion due to interaction) was 0.391 (95%CI: 2.281-0.502), and SI (synergy index) was 1.822 (95%CI: 1.463-2.268). Additionally, there was a significant interaction between rs 290487 and abdominal obesity on the risk of T2D (RERI: 2.642, 95%CI: 1.384-3.900; AP: 0.350, 95%CI: 0.231-0.468; SI: 1.675, 95%CI: 1.348-2.083).These results show that a TCF7L2 gene-BMI interaction or gene-WC interaction may play an important role in the risk for T2D in the Chinese population.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45c53f96f5ac635b116afdca116003b4Test
https://doi.org/10.1016/j.clnu.2019.01.014Test