Amplification of ABCG2 Transporter Gene Exon 8 and 14 of Diabetic Patients

2021 ◽  
Author(s):  
Said Ali Shah
Keyword(s):  
Uric Acid ◽  
Association Studies ◽  
Serum Uric Acid Level ◽  
Elevated Serum ◽  
Vascular Diseases ◽  
Diabetic Patients ◽  
Genome Wide Association Studies ◽  
Adverse Health Outcomes ◽  
Sugar Levels ◽  
Abcg2 Gene

Diabetes is a serious illness affecting over 425 million people worldwide. Diabetes develops as a result of the failure of the pancreatic β-cells to produce the hormone insulin in the amount required to meet the body's needs. As a consequence of insulin deficiency, blood sugar levels rise and lead into macro vascular and micro vascular diseases of the kidneys, heart, eyes and nerves with passage of time. Elevated serum uric acid level is related with a variety of adverse health outcomes which includes gout, hypertension, diabetes mellitus, metabolic syndrome and cardiovascular diseases. Several genome-wide association studies on uric acid levels have implicated the ATP-binding cassette, subfamily G, member 2 (ABCG2) gene as being possibly causal. The aim of present study was to amplify exon 8 and exon 14 of ABCG2 gene of diabetic patients. Blood samples were collected from diabetic type II patients (n=25). Genomic DNA was extracted from blood using Phenol-Chloroform method, followed by amplification of Exon 8 and exon 14 was using Polymerase Chain Reaction (PCR). The size of amplified genes of DNA was analyzed by Gel Electrophoresis and then observed under gel documentation through UV rays.

scholarly journals A Study on Serum Uric Acid Level in Type II Diabetes Mellitus

2021 ◽  
Vol 15 (7) ◽  
pp. 2317-2319
Author(s):  
Kashif Ali Samin ◽  
Khalil Ullah ◽  
Muhammad Ikram Shah ◽  
Abidamateen Ansari ◽  
Sadia Khalil ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Uric Acid ◽  
Serum Uric Acid ◽  
Uric Acid Level ◽  
Type Ii Diabetes ◽  
Acid Level ◽  
Serum Uric Acid Level ◽  
Type Ii Diabetes Mellitus ◽  
Diabetic Patients ◽  
Type Ii

Background and Aim: Morbidity and mortality from non-communicable diseases, particularly diabetes are increasing rapidly in Pakistan, the prevalence has reached 17.1%. A strong association has been witnessed between type II diabetes mellitus with atherosclerosis and serum uric acid level. The current study aim was to assess the levels of serum uric acid in type II diabetes mellitus. Materials and Methods: This cross-sectional study was carried out on 85 diagnosed patients of type II diabetes mellitus in Diabetes hospital, Peshawar and the Department of General Medicine, Shaikh Zayed Medical Complex, Lahore during the period from March 2020 to August 2020.Type II diabetes mellitus (DM) diagnosed patients 85 and healthy control 30 were evaluated in this study. The level of hyperuricemia was defined for women > 6 mg/dl and men >7 mg/dl in men. Results: In this study, a total of 85 diabetic diagnosed patients and 30 healthy controls were enrolled. No significant differences were there in the baseline characteristics like anthropometric and socio-demographic parameters. The mean age for diagnosed and control cases was 58.6±8.7 and 56.5±7.6 years with an age range of 40 and 80 years. Hyperuricemia proportion among diabetic patients was 12.13% while none of the control cases had hyperuricemia. The uric acid means level increased from 4.29±0.81 mg/dl with a diabetic duration between 3 and 4 years to 4.59±0.99 mg/dl with a diabetic duration of 5 to 7 years. Furthermore, mean serum uric acid level reached 6.50±1.08 in cases with diabetic duration 8 to 12 years. Statistically, a significant association was found between diabetic duration and serum uric acid. Also, a positive correlation was found in hyperlipidemia, serum uric acid levels, and hypertension. Conclusion: In diabetic patients serum uric acid levels were found to be significantly higher. Diabetic patients had hypertension, elevated serum uric acid levels, and high triglycerides with dyslipidemia. The rise in serum uric acid levels is proportional to the duration of diabetes. Keywords: Serum uric acid, Type 2 diabetes mellitus, Hypertension

scholarly journals An Integrative Phenotype–Genotype Approach Using Phenotypic Characteristics from the UAE National Diabetes Study Identifies HSD17B12 as a Candidate Gene for Obesity and Type 2 Diabetes

Genes ◽  
2020 ◽  
Vol 11 (4) ◽  
pp. 461 ◽  
Author(s):  
Mahmood Y. Hachim ◽  
Hayat Aljaibeji ◽  
Rifat A. Hamoudi ◽  
Ibrahim Y. Hachim ◽  
Noha M. Elemam ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Candidate Gene ◽  
United Arab Emirates ◽  
Cell Function ◽  
Association Studies ◽  
Diabetic Patients ◽  
Genome Wide Association Studies ◽  
Phenotypic Characteristics ◽  
Obstructive Sleep

The United Arab Emirates National Diabetes and Lifestyle Study (UAEDIAB) has identified obesity, hypertension, obstructive sleep apnea, and dyslipidemia as common phenotypic characteristics correlated with diabetes mellitus status. As these phenotypes are usually linked with genetic variants, we hypothesized that these phenotypes share single nucleotide polymorphism (SNP)-clusters that can be used to identify causal genes for diabetes. We explored the National Human Genome Research Institute-European Bioinformatics Institute Catalog of Published Genome-Wide Association Studies (NHGRI-EBI GWAS) to list SNPs with documented association with the UAEDIAB-phenotypes as well as diabetes. The shared chromosomal regions affected by SNPs were identified, intersected, and searched for Enriched Ontology Clustering. The potential SNP-clusters were validated using targeted DNA next-generation sequencing (NGS) in two Emirati diabetic patients. RNA sequencing from human pancreatic islets was used to study the expression of identified genes in diabetic and non-diabetic donors. Eight chromosomal regions containing 46 SNPs were identified in at least four out of the five UAEDIAB-phenotypes. A list of 34 genes was shown to be affected by those SNPs. Targeted NGS from two Emirati patients confirmed that the identified genes have similar SNP-clusters. ASAH1, LRP4, FES, and HSD17B12 genes showed the highest SNPs rate among the identified genes. RNA-seq analysis revealed high expression levels of HSD17B12 in human islets and to be upregulated in type 2 diabetes (T2D) donors. Our integrative phenotype-genotype approach is a novel, simple, and powerful tool to identify clinically relevant potential biomarkers in diabetes. HSD17B12 is a novel candidate gene for pancreatic β-cell function.

scholarly journals Perspective: The Clinical Use of Polygenic Risk Scores: Race, Ethnicity, and Health Disparities

2019 ◽  
Vol 29 (3) ◽  
pp. 513-516 ◽  
Author(s):  
Megan C. Roberts ◽  
Muin J. Khoury ◽  
George A. Mensah
Keyword(s):  
Precision Medicine ◽  
Association Studies ◽  
Clinical Care ◽  
Genomic Research ◽  
Risk Scores ◽  
Genome Wide Association Studies ◽  
Polygenic Risk ◽  
Adverse Health Outcomes ◽  
Genome Wide ◽  
Disease Risks

Polygenic risk scores (PRS) are an emerging precision medicine tool based on multiple gene variants that, taken alone, have weak associations with disease risks, but collec­tively may enhance disease predictive value in the population. However, the benefit of PRS may not be equal among non-European populations, as they are under-represented in genome-wide association studies (GWAS) that serve as the basis for PRS develop­ment. In this perspective, we discuss a path forward, which includes: 1) inclusion of underrepresented populations in PRS research; 2) global efforts to build capacity for genomic research; 3) equitable imple­mentation of these tools in clinical practice; and 4) traditional public health approaches to reduce risk of adverse health outcomes as an important component to precision health. As precision medicine is imple­mented in clinical care, researchers must ensure that advances from PRS research will benefit all.Ethn Dis.2019;29(3):513-516; doi:10.18865/ed.29.3.513.

scholarly journals Sex Differences in Urate Handling

2020 ◽  
Vol 21 (12) ◽  
pp. 4269 ◽  
Author(s):  
Victoria L. Halperin Kuhns ◽  
Owen M. Woodward
Keyword(s):  
Sex Differences ◽  
Disease Risk ◽  
Association Studies ◽  
Elevated Serum ◽  
Serum Urate ◽  
Genome Wide Association Studies ◽  
Renal Handling ◽  
Physiological Regulation ◽  
Genome Wide

Hyperuricemia, or elevated serum urate, causes urate kidney stones and gout and also increases the incidence of many other conditions including renal disease, cardiovascular disease, and metabolic syndrome. As we gain mechanistic insight into how urate contributes to human disease, a clear sex difference has emerged in the physiological regulation of urate homeostasis. This review summarizes our current understanding of urate as a disease risk factor and how being of the female sex appears protective. Further, we review the mechanisms of renal handling of urate and the significant contributions from powerful genome-wide association studies of serum urate. We also explore the role of sex in the regulation of specific renal urate transporters and the power of new animal models of hyperuricemia to inform on the role of sex and hyperuricemia in disease pathogenesis. Finally, we advocate the use of sex differences in urate handling as a potent tool in gaining a further understanding of physiological regulation of urate homeostasis and for presenting new avenues for treating the constellation of urate related pathologies.

Serum Uric Acid and Cholesterol Levels in Mongoloid and Non-Mongoloid Oligophrenics

1966 ◽  
Vol 112 (482) ◽  
pp. 91-94 ◽  
Author(s):  
L. M. Dalderup ◽  
H. Affourtit-Leeuw ◽  
P. A. F. van der Spek ◽  
G. H. M. Keller ◽  
H. J. Duin ◽  
...  
Keyword(s):  
Uric Acid ◽  
Serum Uric Acid ◽  
Serum Cholesterol ◽  
Dietary Fat ◽  
Acid Level ◽  
Serum Cholesterol Level ◽  
Serum Uric Acid Level ◽  
Elevated Serum ◽  
Cholesterol Levels ◽  
Fat Composition

A number of observations have been published with regard to elevated serum uric acid levels in patients with atherosclerotic (Eidlitz, 1961, 1962) and coronary disease (Gertler, Garn and Levine, 1951) and hyperuricaemia after myocardial infarction (Dreyfuss, 1959; Kohn and Prozan, 1959). Work has also been done on dominant traits for hyperuricaemia together with hypercholesterolaemia (Adlersberg, 1949; Harris-Jones, 1957; Salvini and Verdi, 1959; Schoenfeld and Goldberger, 1963). A greater incidence of cardiovascular diseases among gouty patients than among others has been noted (Gertler and Oppenheimer, 1953), as well as a tendency for spontaneous changes in the serum cholesterol level to be associated with changes of similar direction and magnitude in the serum uric acid level (Schoenfeld and Goldberger, 1963). In view of all these observations, an investigation was undertaken to ascertain whether the serum uric acid levels change with dietary fat composition as do the serum cholesterol levels.

Abstract 45: Sortilin Regulates Arterial Calcification in Atherosclerotic Mice and Associates With Cardiovascular Risk in Humans

2016 ◽  
Vol 36 (suppl_1) ◽  
Author(s):  
Claudia Goettsch ◽  
Joshua Hutcheson ◽  
Hiroshi Iwata ◽  
Sumihiko Hagita ◽  
Peter Libby ◽  
...  
Keyword(s):  
Cardiovascular Risk ◽  
Immune Cell ◽  
Association Studies ◽  
Elevated Serum ◽  
Aortic Calcification ◽  
Cholesterol Concentration ◽  
Arterial Calcification ◽  
High Cholesterol Diet ◽  
Genome Wide Association Studies ◽  
Cardiovascular Morbidity And Mortality

Background: Arterial calcification associates with cardiovascular morbidity and mortality. Human genome-wide association studies linked the SORT1 gene encoding sortilin and coronary artery calcification. We previously demonstrated in vitro that calcification requires sortilin phosphorylation by Fam20C. We hypothesized that sortilin mediates arterial calcification in vivo and that serum sortilin levels can predict cardiovascular events. Results: We assessed the effects of genetic deletion of sortilin ( Sort1 ) in LDL receptor-deficient mice ( Ldlr -/- ) consuming a high-fat, high-cholesterol diet. Sort1 -/- Ldlr -/- mice exhibited 80% lower aortic calcification as compared to control Ldlr -/- mice in intact arteries (fluorescence reflectance imaging of a NIRF calcium tracer, p<0.01). Sort1 -/- Ldlr -/- mice showed 88% lower extracted aortic calcium (p<0.05). Histological analysis revealed less tissue non-specific alkaline phosphatase activity and arterial microcalcification. Transfer of Sort1 -deficient bone marrow cells to irradiated atherosclerotic mice does not alter aortic calcification, indicating that immune cell-derived sortilin may not contribute to sortilin-mediated arterial calcification. In contrast to arterial calcium, Sort1 -deficiency did not alter bone mineralization assessed by μCT and histomorphometry. In a community-based cohort of men aged ≥50 (n=830), abdominal aortic calcification (AAC) was assessed by dual energy X-ray absorptiometry using Kauppila score. Serum sortilin levels were measured by ELISA. After adjustment for confounders (including cholesterol concentration), sortilin levels correlated positively with severe AAC. The highest sortilin quartile associated with higher odds of severe AAC even in men without ischemic heart disease (OR=2.0, p<0.05). Among 745 men followed up prospectively for 7.8 years, major adverse cerebrovascular events occurred in 76 men. Elevated serum sortilin associated with higher event risk (adjusted for confounders, HR=2.8, p<0.001) even in men without diabetes (HR=3.5, p<0.001). Conclusions: Sortilin is a novel therapeutic target to modulate the formation of arterial calcification and a biomarker of both aortic calcification and cardiovascular risk.

Abstract P068: A Genome-wide Association Study for Diabetic Nephropathy Genes in the Japanese Population: The J-MICC Study.

Circulation ◽  
2018 ◽  
Vol 137 (suppl_1) ◽  
Author(s):  
Yasuyuki Nakamura ◽  
Akira Narita ◽  
Seiko Ohno ◽  
Naoyuki Takashima ◽  
Kenji Wakai ◽  
...  
Keyword(s):  
Diabetic Nephropathy ◽  
Japanese Population ◽  
Association Studies ◽  
Linear Regression Analysis ◽  
Genotype Imputation ◽  
Genome Wide Association ◽  
Diabetic Patients ◽  
Genome Wide Association Studies ◽  
Genome Wide ◽  
A Genome

Background: Diabetic nephropathy is the most common cause of chronic kidney disease in the developed countries. Clinical characteristics do not fully predict development of diabetic nephropathy in diabetic patients. There have been few genome-wide association studies (GWAS). Methods: We conducted a GWAS to identify common genetic variations that affected renal function in a Japanese population of 1,117 patients with type 2 diabetes mellitus (T2D) extracted from 14,091 participants appropriate for GWAS as a part of the Japan Multi-Institutional Collaborative Cohort (J-MICC) study. Genotyping was performed at a central laboratory using a HumanOmniExpressExome-8 v1.2 BeadChip array. Genotype imputation was performed using SHAPEIT and Minimac3 software based on the 1000 Genomes reference panel (phase 3). Estimated glomerular filtration rate (eGFR) was calculated according to Matsuo et al. for each patient. The association for the imputed variants with eGFR was performed by a linear regression analysis adjusted for age and sex. Results: We found that rs869312667 at NBEA (β=1.23, P=1.03E-08) and rs8523 at ELOVL2 (β=24.4, P=1.64E-08) were significantly associated with eGFR. These genes have been reported to participate in several metabolic functions and were associated with some disease conditions. However, no previous reports have implied that these genes were related to diabetic nephropathy. Conclusions: rs869312667 at NBEA and rs8523 at ELOVL2 were significantly associated with eGFR in patients with T2D in Japanese.

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