background: coronary artery disease (cad) is a multifactorial and heterogenic disease. recently, genome-wide association studies have reported that rs1333040 (c/t) and rs1004638 (a/t) single nucleotide polymorphisms (snps) in the 9p21 locus have very strong association with cad. this study aimed to examine these associations in southwest of iran. methods: blood samples were collected from 200 c...

conclusions the present findings showed that the ta7/7 promoter of ugt1a1 gene accounted for a considerable number of gilbert’s syndrome cases (11.3%). the studied variations had a significant effect on creatine phosphokinase and serum total bilirubin levels. results about 78.9% of the studied subjects had normal homozygous genotypes, and 21.1% were heterozygous for the gly71arg variation. in t...

alzheimer's disease (ad) is a genetically heterogeneous neurodegenerative disease and late-onset type (load) is the most common form of dementia affecting people over 65 years old. calhm1 (p86l) encodes a transmembrane glycoprotein that controls cytosolic ca2+ concentrations and aß levels and p86l polymorphism in this gene is significantly associated with load in independent case controls in a ...

late-onset alzheimer's disease (load) is a neurodegenerative disorder and the most common form of dementia affecting people over 65 years old. alzheimer’s disease is a complex disease with multi-factorial etiology. inflammation has been approved to have an important role in the pathogenesis of alzheimer’s disease (ad). tnf-a is a main pro-inflammatory cytokine that plays an essential role in in...

multiple sclerosis (ms) is a demyelinating disease of the central nervous system,with unknown etiology in which both genetic and environmental factors are thought to be involved. the hla system provides a set of genetic markers which lend themselves to systematic study. the disease also has variable clinical manifestations, ranging from a relapsing-remitting course to a chronic progressive dise...

background and aims: charcot marie tooth disease (cmt) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. cmt is a heterogeneous disease and has different clinical symptoms. the prevalence of cmt and involved genes differ in different countries. cmt patients experience considerable sleep problems and a higher risk of decreased quality of life. in this work it was aimed ...

The use of animal models in modeling of human genetic disease has many advantages. In some cases, however, this method may not be applicable due to some limitations, such as differences in tissue composition, anatomy and physiology of humans and animals. Isogenic human disease models are a population of cells that are selected or engineered to model a specific genetic disease, in vitro. They ar...

the use of animal models in modeling of human genetic disease has many advantages. in some cases, however, this method may not be applicable due to some limitations, such as differences in tissue composition, anatomy and physiology of humans and animals. isogenic human disease models are a population of cells that are selected or engineered to model a specific genetic disease, in vitro. they ar...