Genetic association between vitamin D receptor gene and Saudi patients confirmed with Familial Hypercholesterolemia.

Introduction: Familial Hypercholesterolemia (FH) is a common condition caused by inherited genetic abnormalities. Inadequate clearance of the circulating low-density lipoproteins (LDL) is the primary cause of the excessive concentrations of LDL seen in FH patients. The relation with vitamin D deficiency and vitamin D receptor (VDR) gene is well documented in the Saudi Arabia.

Effect of Genetic Variations in the Gene on Susceptibility to Type 2 Diabetes Mellitus.

Background: ADIPOQ (adiponectin) affects fatty acid oxidation, glucose uptake, and glycogenesis, all of which are involved in the development of diabetes. As a result, ADIPOQ is being studied as a potential gene for type 2 diabetes mellitus (T2DM), which is a polygenic disease with genetic inheritance. This study aims to investigate the genetic variants (rs17846866 and rs1501299) in gene with T2DM in the Saudi population.

Impact of weight loss predictors in severe-morbid obesity patients in the Saudi population.

Universally, obesity has been affected more than 650 million and converts as global health problem. Obesity is equally affecting starting from children to elder population. Obese subjects are converting into severe obese and then into morbid obesity.

Correction to: Association of the genetic variants of insulin receptor substrate 1 (IRS-1) with type 2 diabetes mellitus in a Saudi population.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Analysis of Downs syndrome with molecular techniques for future diagnoses.

Down syndrome (DS) is a genetic disorder appeared due to the presence of trisomy in chromosome 21 in the G-group of the acrocentric region. DS is also known as non-Mendelian inheritance, due to the lack of Mendel's laws. The disorder in children is identified through clinical symptoms and chromosomal analysis and till now there are no biochemical and molecular analyses.

Q192R polymorphism in the PON1 gene and familial hypercholesterolemia in a Saudi population.

Background: Familial hypercholesterolemia (FH) is an autosomal dominant condition characterized by abnormal levels of low-density lipoprotein (LDL) in the blood. FH is a risk factor for atherosclerosis and cardiovascular disease. The relationship between the paraoxonase 1 (PON1) gene, atherosclerosis and coronary artery disease has not been studied in Saudi patients.

Lack of association between UBE2E2 gene polymorphism (rs7612463) and type 2 diabetes mellitus in a Saudi population.

The ubiquitin-conjugating enzyme E2E 2 (UBE2E2) gene plays an important role in insulin synthe-sis and secretion under conditions in which stress to the endoplasmic reticu-lum is increased in β-cells. In this case-control study, we have selected rs7612462 polymorphism within UBE2E2 gene to identify in a Saudi population the type 2 diabetes mellitus (T2DM) subjects. In total, 376 subjects with T2DM and 380 controls were enrolled in this study.

A54T polymorphism in the fatty acid binding protein 2 studies in a Saudi population with type 2 diabetes mellitus.

Background: Fatty acid-binding protein 2 (FABP2) is an intracellular protein expressed exclusively in the enterocytes of proximal small intestine. FABP2 has a high affinity for saturated and unsaturated long-chain fatty acids and is believed to be involved in the absorption and transport of dietary fatty acids.

Methods: This is a case-control study conceded in 438 T2DM cases and 460 subjects with normal glucose levels and non-obese considered as healthy controls.

Association of the genetic variants of insulin receptor substrate 1 (IRS-1) with type 2 diabetes mellitus in a Saudi population.

Type 2 diabetes mellitus (T2DM) is a chronic degenerative disease, phenotypically and genetically heterogeneous, characterized by high levels of glucose and metabolic complications. Insulin receptor substrate 1 (IRS-1) plays a key role in the insulin-stimulated signal transduction pathway. A glycine-to-arginine substitution at codon 972 (G972R) (rs1801278) in the IRS-1 gene has been associated with impaired insulin action.

ABCA1 C69T gene polymorphism and risk of type 2 diabetes mellitus in a Saudi population.

Type 2 diabetes mellitus (T2DM) is a disease induced by complex interactions between environmental factors and certain genetic factors. Genetic variants in the Adenosine Binding Cassette Transporter Proteins 1 (ABCA1) have been associated with abnormalities of serum lipid levels of high-density lipoprotein (HDL-C). Decreased serum levels of HDL-C have often been observed in T2DM cases, and this condition has been considered to be involved in the mechanism of insulin resistance (IR).

Association of angiotensin converting enzyme gene insertion/deletion polymorphism and familial hypercholesterolemia in the Saudi population.

Background: The study of the association between genotype and phenotype is of great importance for the prediction of multiple diseases and pathophysiological conditions. The relationship between angiotensin converting enzyme (ACE) Insertion/Deletion (I/D) polymorphism and Familial Hypercholesterolemia (FH) has been not fully investigated in all the ethnicities. In this study we sought to determine the frequency of I/D polymorphism genotypes of ACE gene in Saudi patients with FH.