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.

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.

Screening for genetic mutations in LDLR gene with familial hypercholesterolemia patients in the Saudi population.

Familial hypercholesterolemia (FH) is caused by genetic defects involving the low density lipoprotein-receptor (LDL-R), predisposing affected people to premature atherosclerotic cardiovascular disease and death. The aim of the present study was to assess certain exons in the LDLR gene mutation detection analysis affecting in the Saudi population with FH. This case-control study was carried out with 200 subjects; 100 were FH cases and 100 were healthy controls.

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.

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.