Items for "Polymorphism"

The influence of sequence variations in factor VII, -glutamyl carboxylase and vitamin K epoxide reductase complex genes on warfarin dose requirement

The degree of interpatient variability in the warfarin dose required to achieve the desired anticoagulant response can only partly be explained by polymorphisms in the CYP2C9 gene, suggesting that additional genetic factors such as polymorphisms in genes involved in blood coagulation may influence warfarin dose requirement...

Keywords: Polymorphism, warfarin, cytochrome P450 2C9, pharmacodynamic factors, regression model

Factor XIII Val34Leu variant protects against coronary artery disease. A meta-analysis

Several studies suggested that Val34Leu variant of factor XIII (FXIII) might have a protective effect against coronary artery disease (CAD), but studies not supporting these findings have also been published...

Keywords: Coronary disease, factor XIII, Polymorphism, meta-analysis

A structural model of 20S immunoproteasomes: effect of LMP2 codon 60 polymorphism on expression, activity, intracellular localisation and insight into the regulatory mechanisms

The immunoproteasome subunit low molecular weight protein 2 (LMP2) codon 60 polymorphism has been associated with autoimmune diseases...

Keywords: immunoproteasome, LMP2, Polymorphism, proteasome regulation, structural model

Relationship of the CAG repeat polymorphism of the MEF2A gene and coronary artery disease in a Chinese population

Background: Recently, a mutation in the human myocyte enhancer factor-2A (MEF2A) gene was reported to be responsible for an autosomal dominant form of coronary artery disease (CAD)...

Keywords: CAG repeat, coronary artery diseases, myocyte enhancer factor-2A (MEF2A), Polymorphism

A724A polymorphism of sarco(endo)plasmic reticulum Ca²⁺-ATPase 2 (SERCA2) in hypertensive patients

Background: Impaired function of calcium ion transporter sarco(endo)plasmic reticulum Ca²⁺-ATPase2 (SERCA2), encoded by ATP2A2 gene, was observed in hypertension...

Keywords: 24-h ambulatory blood pressure monitoring (ABPM), hypertension, Polymorphism, sarco(endo)plasmic reticulum Ca2+ ATPase 2 (SERCA2)

Frequency of two human glutathione-S-transferase omega-1 polymorphisms (E155 deletion and E208K) in Ovambo and Japanese populations using the PCR-based genotyping method

Background: Human glutathione S-transferase omega-1 (hGSTO1) has monomethylarsonate (MMA^v) reductase activity...

Keywords: arsenic metabolism, glutathione S-transferase omega-1, Japanese, monomethylarsonate reductase, Ovambos, Polymorphism

Cardiovascular risk-associated allele frequencies for 15 genes in healthy elderly French and Chinese

In order to investigate possible ethnic differences in genetic and environmental determinants, we investigated several cardiovascular disease-associated genetic variations in successful ageing populations of France (Nancy) and China (Hong Kong)...

Keywords: ageing, allelic frequency, cardiovascular disease, multi-locus assay, Polymorphism

TaqMan assays for genotyping of single nucleotide polymorphisms present at a disease susceptibility locus on chromosome 6

Multiple single-nucleotide polymorphisms in the BAT1-NFKBIL1-LTA region on the short arm of chromosome 6 have been found to be associated with susceptibility to myocardial infarction in a recent case-control study including individuals from Japan...

Keywords: haplotype, lymphotoxin-?, myocardial infarction, Polymorphism, TaqMan

Polymorphisms of the peroxisome proliferator-activated receptor-? coactivator-1? gene are associated with hypertrophic cardiomyopathy and not with hypertension hypertrophy

Background: The clinical phenotype of both hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy (LVH) induced by hypertension is heterogeneous...

Keywords: hypertrophy, Polymorphism, PGC-1?

ARH missense polymorphisms and plasma cholesterol levels

Mutations in a putative low-density lipoprotein (LDL) receptor adaptor protein called ARH have been recently described in patients with autosomal recessive hypercholesterolemia (ARH)...

Keywords: ARH, cholesterol, Polymorphism

Apolipoprotein A5 and triglyceridemia. Focus on the effects of the common variants

High plasma levels of triglycerides are an independent risk factor for the development of cardiovascular disease...

Keywords: apolipoprotein A5, myocardial infarction, Polymorphism, triglycerides

Apolipoprotein B gene 3?VNTR polymorphism: association with plasma lipids and coronary heart disease in Han Chinese

Background: Studies that considered polymorphisms within the apolipoprotein B (APOB) gene as risk factors for coronary heart disease (CHD) have reported conflicting results.

Methods: The phenotypic effects of the 3?VNTR polymorphism of the APOB gene on the susceptibility to CHD were investigated in 120 unrelated healthy individuals and 137 CHD patients...

Keywords: apolipoprotein B, Chinese, coronary heart disease, genotype, Polymorphism

Lipoprotein lipase gene polymorphism at the PvuII locus and serum lipid levels in Guangxi Hei Yi Zhuang and Han populations

Background: Hei Yi (which means black worship and black dressing) Zhuang is a specific subgroup of the Zhuang nationality in China...

Keywords: apolipoproteins, gene, Hei Yi Zhuang nationality, lipids, lipoprotein lipase, Polymorphism

Associations of apolipoprotein E exon 4 and lipoprotein lipase S447X polymorphisms with acute ischemic stroke and myocardial infarction

Background: Because apolipoprotein E (apoE) and lipopoprotein lipase (LPL) polymorphisms interact with each other and with other factors to affect lipid metabolism, we sought to determine their separate and combined effects in association with ischemic vascular disease.

Methods: We performed a case-control study of 816 subjects: 246 acute ischemic stroke patients, 234 acute myocardial infarction patients, and 336 controls...

Keywords: apolipoprotein E, ischemic, lipoprotein lipase, Polymorphism, smoking

Haptoglobin polymorphism in patients with preeclampsia

Background: Haptoglobin (Hp) polymorphism has been associated with blood pressure regulation and essential hypertension...

Keywords: haptoglobin, hypertension, Polymorphism, preeclampsia, proteinuria

Real-time multiplex PCR assay for genotyping of three apolipoprotein E alleles and two choline acetyltransferase alleles with three hybridization probes

Background: Apolipoprotein E (APOE) and choline acetyltransferase (ChAT) have been suggested as candidate genes for determining the risk of late-onset Alzheimer's disease...

Keywords: apolipoprotein E (ApoE), choline acetyltransferase (ChAT), Polymorphism, real-time multiplex PCR

Gender dependent association between perinatal morbidity and estrogen receptor-alpha Pvull polymorphism

Aims: Assuming the importance of estrogen in perinatal physiology, we tested the association of an estrogen receptor-alpha (ER-alpha) gene Pvull pP polymorphism with perinatal morbidity in premature infants.

Methods: The ER-alpha Pp genotype was determined in 69 low-birth weight (LBW) boys and 72 LBW girls, 86 term boys and 81 term girls...

Keywords: Estrogen receptor-alpha, Polymorphism, preterm, preterm morbidity

Polymorphism of Ag₃VO₄

The polymorphism of Ag₃VO₄ was investigated with temperature dependent synchrotron powder diffraction, and differential scanning calorimetry in the temperature range 295 K ≤ T ≤ 893 K...

Keywords: Ternary silver oxovanadates, Polymorphism, Powder diffraction structure analysis, X-ray diffraction

Association between the 2756A> G variant in the gene encoding methionine synthase and myocardial infarction in Tunisian patients

Background: Elevated plasma total homocysteine (tHcy), a risk factor for coronary artery disease (CAD), is due to defects in genes encoding for enzymes involved in tHcy metabolism or from inadequate status of vitamins involved in tHcy disposal...

Keywords: homocysteine, methionine synthase, MTR, myocardial infarction, Polymorphism

5? ins/del and 3? VNTR polymorphisms in the apolipoprotein B gene in relation to lipids and coronary artery disease

Background: Studies that considered apolipoprotein B (APOB) gene polymorphisms as risk factors for coronary artery disease (CAD) have reported conflicting results...

Keywords: apolipoprotein B, coronary artery disease, genotypes, 5? ins/del, lipids, Polymorphism, 3? VNTR

Apolipoprotein E polymorphisms in Mexican patients with coronary artery disease

Background: Apolipoprotein E polymorphisms have important effects on plasma lipid levels and in the genetic susceptibility to development of cardiovascular diseases...

Keywords: apolipoprotein E, coronary artery disease, genetic susceptibility, Mexican population, Polymorphism

The influence of smoking and homocysteine on subclinical atherosclerosis is modified by the connexin37 C1019T polymorphism – The Cardiovascular Risk in Young Finns Study

Background: A polymorphism C1019T on the connexin37 (Cx37) gene has been found to associate with coronary artery disease...

Keywords: atherosclerosis, brachial artery flow mediated dilatation, carotid artery compliance, connexin37, Interaction, intima-media thickness, Polymorphism

Polymorphisms of CYP17A1, CYP19, and androgen in Brazilian women with uterine leiomyomas

Background: Uterine leiomyomas are common, benign, smooth muscle tumors representing a significant public health problem...

Keywords: androgen (AR), CYP17A1, CYP19, Polymorphism, uterine leiomyoma

Multimers and adiponectin gene 276G>T polymorphism in the Japanese population residing in rural areas

Background: Although it has been shown that high-molecular weight adiponectin is an active form, few studies have attempted to clarify the relationship between high molecular weight adiponectin and markers linked with cardiovascular diseases in the general population.

Methods: We screened 236 Japanese study participants recruited from the general population, residing in one large and four small islands...

Keywords: ACDC (adipocyte-, C1Q and collagen domain-containing) gene, adiponectin (Ad), high-molecular weight adiponectin (HMW-Ad), Polymorphism