TaqI polymorphism in the human LDL receptor gene.

The role of polymorphism of TaqI in Vitamin D receptor gene and risk of ovarian cancer in women of North India

Background & objective: Ovarian cancer mortality is associated with lower regional sunlight exposure. Vitamin D and its metabolites are best known for their action in calcium and bone metabolism. However, epidemiological studies have suggested that an increased ovarian cancer risk is associated with decreased production of vitamin D. The vitamin D signaling pathway is involved in a wide variety...

Single-nucleotide polymorphism of rs11061971 (+219 A>T) in adiponectin receptor 2 (AdipoR2) gene and its association with risk of type 2 diabetes among an Iranian population

Background and Objectives: Genetic modifications in the adiponectin receptor 2 (AdipoR2) gene can affect phenotypes associated with insulin resistance and diabetes. The purpose of this study was to evaluate the possible role of genetic modifications in the AdipoR2 gene, to determine the frequency of genotypes and polymorphism alleles of this gene at rs11061971 (+219 A>T), and to investigate its...

A Novel Mutation in Exon 4 of the Low Density Lipoprotein (LDL) Receptor Gene in an Iranian Familial Hypercholesterolemia Patient

Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in LDL receptor gene. The penetrance of FH is almost 100%, meaning that half of the offspring of affected parents born with disease. The patients are at risk of premature coronary heart disease (CHD). There is no report about the molecular basis of FH in Iran. Identification of mutat...

بررسی پلی مورفیسم های گیرنده ویتامینD، (BsmI،TaqI) و همراهی آنها با سطح سرمی پروتئین کلوتو در بیماران مبتلا به اسکلرودرمی

Background & Aims: Scleroderma is a chronic connective tissue disease with unknown etiology. Vitamin D, a necessary hormone that plays a particular function in the calcium and phosphate homeostasis, is involved in etiology of this disorder. Klotho, co-receptor of fibroblast growth factor 23 (FGF-23), can interfere in calcium and phosphate metabolism. The purpose of this study was to determ...

Vitamin D Receptor TaqI Gene Variant in Exon 9 and Polycystic Ovary Syndrome Risk