Abstract Background and Aims:‎ Von Willebrand disease is a bleeding disorder caused by quantitative or functional defects in von Willebrand factor. The disease is found in up to 1 percent of the population. The most common symptom is mucocutaneous bleeding. Recently, studies conducted on healthy people showed that the H817Q mutation that previously known to cause von Willebrand...

background: angiotensin i converting enzyme (ace) is a zinc metalloproteinase, converts ang-i to ang- ii, a pro-inflammatory agent which may contribute to pathophysiology of some diseases like type 2 diabetes. objective: to investigate the relationship between ace i/d polymorphism and type 2 diabetes in 261 iranian casecontrol pairs. methods: 170 patients (85 type 2 diabetics with nephropathy a...

in this study, effect of two genotype imputation strategies, relatedness between reference panel and test populations and minor allele frequency on imputation error rate were examined with using a stochastic simulated population. reference panel and test populations were composed of 1,000 and 500 individuals, respectively. individuals in the reference panel were genotyped with using a high and ...

there are several known and unknown factors for unexplained recurrent spontaneous abortion (ursa). among them, complement regulatory protein cd46 plays a pivotal role in preventing uncontrolled activation of complement and successful continuation of pregnancy. we aimed in this study to investigate the possible association of cd46 ivs1-1724 c>g polymorphism with rsa in iranian women. 141 women w...

background: cytochrome p450 2c19 (cyp2c19) is important in metabolism of wide range of drugs. cyp2c19*17 is a novel variant allele which increases gene transcription and therefore results in ultra-rapid metabolizer phenotype (urm). distribution of this variant allele has not been well studied worldwide. the aim of present study was to investigate allele and genotype frequencies of cyp2c19*17 in...

Background: Adiponectin, an adipocyte-secreted hormone, is known to have anti-atherogenic, anti-inflammatory, and anti-diabetic properties. In the present study, the association between two common single nucleotide polymorphisms (SNPs) (+45T/G and +276G/T) of ADIOPQ gene and coronary artery disease (CAD) was assessed in the subjects with type 2 diabetes (T2DM). Methods: Genotypes of two SNPs we...

background: cytokines are cell signaling molecules which upon release by cells facilitate the recruitment of immune-modulatory cells towards the sites of inflammation. genetic variations in cytokine genes are shown to regulate their production and affect the risk of infectious as well as autoimmune diseases. intron-3 of interleukin-4 gene (il-4) harbors 70-bp variable number of tandem repeats (...