DNA Repair Enzyme XRCC4 30 bp Indel Intron 3 Locus Significant Association with Predisposition of Cataract in Senility.

Impaired DNA damage repair cascade can disrupt the lens transparency due to aging-associated oxidative stress. The aim of study was to assess the association of 30 bp indel mutation (rs28360071) in XRCC4 gene with susceptibility of cataract in senility. The study followed case-control design with a total of n = 200 participants and divided equally into senile cataract patients and control groups.

Clinical Association of Biochemical Variations Among Multilocus Genotypes of Antioxidant Enzymes with Susceptibility of Cataract in Hyperglycemia.

Hyperglycemia plays a pronounced role in accelerating the process of aging due to high oxidative stress which triggers dyslipidemia and subsequently led to the progression of cataract. The aim of this study was to investigate lipid profile and its relationship with genotypes of SOD1, GPX1, and CAT variants in cataract patients. Total n = 680 samples were screened in four groups: senile cataract (SC), diabetic cataract (DC), type 2 diabetes mellitus (DM), and controls (CL).

Predisposition of SOD1, GPX1, CAT genetic variants and their haplotypes in cataractogenesis of type 2 diabetes mellitus in Pakistan.

Aims: Cataract formation is accelerated by hyperglycemia due to the excessive production of oxidative stress. This study aimed to examine the underlaying role of glutathione peroxidase 1 (GPX1) rs1800668, catalase (CAT) rs1001179 and superoxide dismutase 1 (SOD1) 50 bp Indel promotor region variants in the pathogenesis of cataract in patients with diabetes.

Methods: A population-based case-control study of n=680 individuals was conducted which comprised of four respective groups: type 2 diabetes mellitus, diabetic cataract, senile cataract patients and controls.

Vitamin D receptor gene polymorphism TaqI (rs731236) and its association with the susceptibility to coronary artery disease among Pakistani population.

Background: Coronary artery disease (CAD) is a leading cause of mortality in Pakistan and also worldwide. Vitamin D receptor (VDR) regulates the transcription of many genes and has a significant impact on inflammation and the morphology of cardiac cells. Genetic variation in the VDR gene such as the TaqI polymorphism (rs731236) may have an impact that causes adverse effects.

A Study on Gene Promoter Polymorphism in Healthy Pakistani population.

Background & Objective: Catalase (CAT) is an important endogenous antioxidant enzyme that detoxifies HO into water and oxygen, consequently limiting the deleterious effects of reactive oxygen species. It has suggested that OMIM: gene promoter polymorphism is predominantly associated with different human disorders such as hypertension, cancers, diabetes, nephropathy, and other diseases accompanied by oxidative stress. This study was designed to investigate the prevalence of mutant T allele frequency in healthy individuals.

Common variant within the FTO gene, rs9939609, obesity and type 2 diabetes in population of Karachi, Pakistan.

Aim: To determine the effect of genetic variants within the FTO gene (rs9939609) on obesity related traits and type 2 diabetes in South Asian population of Karachi, Pakistan.

Methods: A case-control study was conducted at Baqai Institute of Diabetology and Endocrinology (BIDE), Baqai Medical University situated in Karachi. A total of 296 patients with known type 2 diabetes and 198 controls aged greater than and equal to 45 years were recruited.

Glycemic control, dyslipidemia and endothelial dysfunction in coexisted diabetes, hypertension and nephropathy.

Diabetes mellitus is a chronic metabolic disorder that can lead to serious cardiovascular, renal, neurologic and retinal complications. Diabetes clustered with hypertension and nephropathy has become the leading cause of end-stage renal disease globally. This study describes diabetes, hypertension and nephropathy with reference to glycemic control, dyslipidemia and endothelial dysfunction indicating the foremost basis of morbidity and mortality world wide and rapidly progressing in Pakistan.

Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis.

Background: The extracellular matrix protein 1 (ECM1) is a glycoprotein, expressed in skin and other tissues. Loss-of-function mutation in ECM1 causes a rare autosomal recessive disorder called lipoid proteinosis. Lipoid proteinosis is presented by varying degrees of skin scars, beaded papules along the eyelid margins, variable signs of hoarseness of voice and respiratory disorders.