Search results for "polymorph"
showing 10 items of 2115 documents
Sequence analysis of the DRB1 promoter reveals limited polymorphism with no influence on gene expression.
2001
HLA-class II promoters contain a set of conserved regulatory regions necessary for constitutive and induced gene expression. For the HLA-DQB as well as for the DRB1 promoter sequence, polymorphisms with influence on gene expression have been reported. In contrast to these data we could show that there is very limited allele-specific polymorphism among the HLA-DRB1 promoter alleles. In a long range PCR we amplified a DNA sequence containing the promoter and the second exon of the DRB1 gene in one fragment. Nested PCR products of this PCR fragment for the promoter and for the second exon were analysed by DNA sequencing to allow the linkage of a promoter to its DR allele. Most investigated DRB…
Interleukin 1 Gene Polymorphisms Presumably Participate in the Pathogenesis of Chronic Spontaneous Autocreative Urticaria
2020
Recent studies underline a potential role of autoimmune and genetic disturbances in this disorder pathogenesis. Variants in genes related to inflammatory processes may possibly predispose to chronic spontaneous urticaria (CSU) occurrence. The objective of this study was to search for an association of Il1 genes polymorphisms with the pathogenesis of CSU. The examined group consisted of 153 unrelated chronic spontaneous autoreactive urticaria patients. The control group consisted of 104 unrelated healthy volunteers. In all studied subjects, IL1 rs1304037 and rs180058 polymorphisms were examined. The Urticaria Activity Score was used to assess disease intensity. The age of disease onset was a…
A common biological basis of obesity and nicotine addiction
2013
Contains fulltext : 128630.pdf (Publisher’s version ) (Open Access) Smoking influences body weight such that smokers weigh less than non-smokers and smoking cessation often leads to weight increase. The relationship between body weight and smoking is partly explained by the effect of nicotine on appetite and metabolism. However, the brain reward system is involved in the control of the intake of both food and tobacco. We evaluated the effect of single-nucleotide polymorphisms (SNPs) affecting body mass index (BMI) on smoking behavior, and tested the 32 SNPs identified in a meta-analysis for association with two smoking phenotypes, smoking initiation (SI) and the number of cigarettes smoked …
Biomolecular Investigations in Osteoarthritis
2012
Intron variants of the p53 gene are associated with increased risk for ovarian cancer but not in carriers of BRCA1 or BRCA2 germline mutations
1999
Two biallelic polymorphisms in introns 3 and 6 of the p53 gene were analysed for a possible risk-modifying effect for ovarian cancer. Germline DNA was genotyped from 310 German Caucasian ovarian cancer patients and 364 healthy controls. We also typed 124 affected and 276 unaffected female carriers with known deleterious BRCA1 or BRCA2 germline mutation from high-risk breast-ovarian cancer families. Genotyping was based on PCR and high-resolution gel electrophoresis. German ovarian cancer patients who carried the rare allele of the MspI restriction fragment length polymorphism (RELP) in intron 6 were found to have an overall 1.93-fold increased risk (95% confidence internal (CI) 1.27–2.91) w…
Genetic determined downregulation of both type 1 and type 2 cytokine pathways might be protective against pancreatic cancer
2008
Hypothalamic-Pituitary-Adrenal axis and cognitive function in healthy older people: genetic, situational and individual factors
2019
The world population is getting older, and this age group faces important health challenges, among which age-related cognitive decline stands out. Therefore, it is important to identify vulnerability and protective health factors in order to understand ways to prevent cognitive decline. This thesis aimed to address the relationship between the Hypothalamic–Pituitary–Adrenal (HPA) axis and cognitive functioning during aging, taking into account genetic (Apolipoprotein E, ApoE, polymorphism), situational (loneliness), and individual factors (personality traits). To do this, a group of healthy older people over 55 years of age, men and women, were evaluated. A neuropsychological battery was ad…
Influence of CYP2C9 polymorphism on serum levels of phenobarbital metabolites
2013
Selective encapsulation and enhancement of the emission properties of a luminescent Cu(I) complex in mesoporous silica
2018
We describe a synthetic approach to prepare new luminescent silica‐based materials through the encapsulation of a neutral copper(I) complex inside the pores of mesoporous silica nanoparticles (MSN). The copper(I) complex is present, in the solid state, as two polymorphs, blue and yellow emissive, and in solution it shows a pale yellow color that is also mirrored by an emission in the yellow‐orange region of the electromagnetic spectrum. The X‐ray structures of single crystals have been obtained for both polymorphs. The complex encapsulation in MSN is achieved by its entrapment inside micelles followed by condensation of the silica source. Interestingly, the entrapment leads to the isolation…