Search results for "Predisposition"

Genetic bases of urinary albumin excretion and related traits in hypertension

2010

Epidemiological as well as animal studies have recognized the potential role of genetic factors in the development of microalbuminuria and related traits (renal insufficiency, end-stage renal disease and nephroangiosclerosis) in hypertension. To unravel genetic variants of susceptibility, candidate gene, linkage and genome wide scan analysis has been used. In spite of the great efforts that have been made in the field, sound knowledge about the major genetic variants causing the susceptibility to develop renal damage in hypertension is scarce, since many associations were not replicated or only showed association in a certain subgroup of patients. Looking initially at genes of the most impo…

Dual specificity phosphatase 1 knockout mice show enhanced susceptibility to anaphylaxis but are sensitive to glucocorticoids.

2007

Dual specificity phosphatase DUSP1 (otherwise known as mitogen-activated phosphatase 1 or MKP-1) dephosphorylates MAPKs, particularly p38, and negatively regulates innate immunity. Recent studies have shown that the DUSP1 gene is transcriptionally up-regulated by glucocorticoids (GCs) and that the antiinflammatory action of GCs is impaired in DUSP1-/- mice. Here we show that GC-mediated dephosphorylation of ERK-1 and ERK-2 activated by IgE receptor cross-linking is unimpaired in bone marrow-derived mast cells (BMMCs) of DUSP1-/- mice. Dephosphorylation of phospho-p38 MAPK is impaired but only at early times of GC treatment. Proinflammatory cytokine and chemokine gene expression (CCL2, IL-6,…

HLA-DQ: Celiac diseasevsinflammatory bowel disease

2018

Aim To determine the genetic predisposition to celiac disease (CeD) in inflammatory bowel disease (IBD) patients by quantifying the frequency of CeD-related human leucocyte antigen (HLA) (HLA-CeD: HLA-DQ2 and -DQ8) in IBD patients globally, by type of IBD and gender, and by calculating the protective/risk contribution of these haplotypes in the development of the IBD disease. Methods We conducted a prospective study with IBD patients from our Unit. Clinical information was gathered and blood was tested for HLA-CeD. The control group was made up of unrelated Valencian organ donors. Results 1034 subjects were analyzed: 457 IBD [207 ulcerative coliti (UC) and 250 Crohn's disease (CD)] patients…

Evaluation of cytokine polymorphisms (TNFalpha, IFNgamma and IL-10) in Down patients with coeliac disease.

2005

Abstract Background In Down syndrome there is an increased prevalence of coeliac disease, but the reasons for this association are yet unknown. Aims To evaluate a possible correlation between TNFα, IFNγ and IL-10 genotype polymorphisms with the susceptibility to coeliac disease in Down syndrome patients. Methods Single nucleotide polymorphisms of TNFα (−308G → A promoter region), IFNγ (+874T → A promoter region) and IL-10 (−1082G → A promoter region) have been studied in 10 Down patients with coeliac disease, in 40 Down patients without coeliac disease and in 220 healthy controls. Clinical features were also studied in coeliac disease–Down syndrome patients. Results The 10 coeliac disease–D…

No paradox, no progress: inverse cancer comorbidity in people with other complex diseases.

2011

Salvador Martínez [et al.]. 5 p., 2 tables and references.

OP21.08: Genetic predisposition of pre-eclampsia and changed flow in uterine artery basin

2018

Genetic and environmental aspect of polycystic ovary syndrome.

2004

Polycystic ovary syndrome (PCOS) is a heterogeneous syndrome determined in most patients by the association of two main factors: hyperandrogenism and insulin resistance. These characters are probably independent of each other and seem to be inherited by several different mechanisms. In some patients homozygous gene alteration has been found but in most patients PCOS seems to be determined by the association of gene polymorphisms that are common in the general population but alone are unable to determine phenotypic consequences. Alteration of genes that regulate the initial steps of ovarian steroidogenesis is probably the main causal factor of hyperandrogenism. Insulin resistance may be the …

Alleles and haplotypes of the estrogen receptor alpha gene are associated with an increased risk of spontaneous abortion.

2010

Objective To investigate whether polymorphisms in estrogen receptor alpha (ERα) or beta (ERβ) genes are associated with a risk of miscarriage. Design A retrospectively analyzed, prospectively obtained database of cases and controls. Setting University hospital menopause unit. Patient(s) 177 women with at least one spontaneous abortion and 442 controls with at least one live birth and no history of miscarriage. Intervention(s) None. Main Outcome Measure(s) Genotype frequencies and odd ratios for abortion risk in cases and controls for four single nucleotide polymorphisms (SNPs) located in intron 1 (C>T and A>G), intron 4 (A>T), and exon 8 (T>C) for the ERα gene, and two SNPs located in intro…

Genetic effects in common on maximal walking speed and muscle performance in older women

2007

The purpose was to examine whether maximal walking speed, maximal isometric knee extensor strength, and leg extensor power share genetic or environmental effects in common. The data was collected from 103 monozygotic and 114 dizygotic female twin pairs aged 63–76 years. Maximal walking speed over 10 m was measured in the laboratory corridor using photocells for timing. Isometric knee extensor strength and leg extensor power were measured using an adjustable dynamometer. The genetic models showed that strength, power, and walking speed had a genetic effect in common which accounted for 52% of the variance in strength, 36% in power, and 34% in walking speed. Strength and power had a non-share…

How registers could enhance knowledge and characterization of genetic dyslipidaemias: The experience of the LIPIGEN in Italy and of other networks fo…

2020

Familial hypercholesterolemia (FH) is a common genetic disorder of lipid metabolism, still underdiagnosed and undertreated in the general population. Pathology registers could play a crucial role in the creation of a comprehensive and integrated global approach to cover all aspects of this disease. Systematic data collection of patients affected by FH has increased dramatically worldwide in the past few years. Moreover, results from registers already established for the longest time showed their potentialities in the implementation of the knowledge of FH, comparing country-specific approaches and providing real-world data about identification, management and treatment of FH individuals in t…