Search results for "Morphisms"
showing 10 items of 190 documents
FCGR polymorphisms and cetuximab efficacy in chemorefractory metastatic colorectal cancer: an international consortium study
2015
OBJECTIVE: We aimed to better clarify the role of germline variants of the FCG2 receptor, FCGR2A-H131R and FCGR3A-V158F, on the therapeutic efficacy of cetuximab in metastatic colorectal cancer (mCRC). A large cohort with sufficient statistical power was assembled.DESIGN: To show a HR advantage of 0.6 in progression-free survival (PFS) for FCGR2A-HH versus the rest and FCGR3A-VV versus the rest, with an 80% power, 80 Kirsten Rat Sarcoma Viral Oncogene Homolog (KRAS) wild-type (KRAS-WT) and 52 KRAS-WT patients are required, respectively. This leads to a total sample size of 952 and 619 patients, respectively. Samples were collected from 1123 mCRC patients from 15 European centres treated wit…
Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function
2011
Pulmonary function measures reflect respiratory health and are used in the diagnosis of chronic obstructive pulmonary disease. We tested genome-wide association with forced expiratory volume in 1 second and the ratio of forced expiratory volume in 1 second to forced vital capacity in 48,201 individuals of European ancestry with follow up of the top associations in up to an additional 46,411 individuals. We identified new regions showing association (combined P < 5 x 10(-8)) with pulmonary function in or near MFAP2, TGFB2, HDAC4, RARB, MECOM (also known as EVI1), SPATA9, ARMC2, NCR3, ZKSCAN3, CDC123, C10orf11, LRP1, CCDC38, MMP15, CFDP1 and KCNE2. Identification of these 16 new loci may p…
Association Between Interleukin-10 Polymorphisms and Alzheimer's Disease: A Systematic Review and Meta-Analysis
2012
UNLABELLED It has been hypothesized that polymorphisms of interleukin (IL)-10 genes affect the risk of developing late onset Alzheimer's disease (AD). However, results of different studies are often inconsistent. Our aim was to investigate by meta-analysis the association of the common polymorphisms comprehensively defining the genetic variability of the IL-10 gene with AD risk. Fifteen studies investigating the association between IL-10 polymorphisms (-1082, -819, -592) and AD were found and analyzed. The model-free approach was applied to meta-analyze these case-control genetic association studies. Available data suggested an association between -1082 polymorphism and AD risk with a margi…
Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk
2019
Breast cancer in men is a rare and still poorly characterized disease. Inherited mutations in BRCA1, BRCA2 and PALB2 genes, as well as common polymorphisms, play a role in male breast cancer genetic predisposition. Male breast cancer is considered a hormone-dependent tumor specifically related to hyperestrogenism. Polymorphisms in genes involved in estrogen biosynthesis and metabolism pathways, such as CYP17A1 and CYP1B1, have been associated with breast cancer risk. Here, we aimed to investigate the role of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk. A series of 597 male breast cancer cases and 1022 male controls, recruited within the Italian Multicenter Study on male brea…
Abstracts of the 3rd Joint Meeting of Pathology and Laboratory Medicine
2016
Background: Degenerative forms of mitral valve diseases (MVDs) are complex pathologies. Thus, it is difficult to make generalizations about MVD pathways or genetic risk factors. However, a key role of metalloproteinases (MMPs) in their pathophysiology is emerging. Thus, we performed a study to assess eventual associations of some functional SNPs in MMP-2 and MMP-9 genes with MVD risk, symptom severity and short- and long-term (4.8 years) complications. Methods: For this purpose, 90 patients and two control groups were genotyped for MMP-2 and MMP-9 gene SNPs, and systemic levels of proatrial natriuretic peptide (ANP), and two enzymes were quantified and correlated to the MMP-2 and MMP-9 SNPs…
An innovative way to highlight the power of each polymorphism on elite athletes phenotype expression
2017
The purpose of this study was to determine the probability of soccer players having the best genetic background that could increase performance, evaluating the polymorphism that are considered Performance Enhancing Polymorphism (PEPs) distributed on five genes: PPAR alpha, PPARGC1A, NRF2, ACE e CKMM. Particularly, we investigated how each polymorphism works directly or through another polymorphism to distinguish elite athletes from non-athletic population. Sixty professional soccer players (age 22.5 +/- 2.2) and sixty healthy volunteers (age 21.2 +/- 2.3) were enrolled. Samples of venous blood was used to prepare genomic DNA. The polymorphic sites were scanned using PCR-RFLP protocols with …
Identification of two new alleles at k-casein (CSN3) gene in Girgetana goat breed
2013
In the milk of ruminants, more than 95% of proteins are synthesized by six structural genes, four caseins and two whey proteins. The κ-casein fraction plays an important role in the formation, stabilization and aggregation on casein micelles and thus affects technological and nutritional properties of milk. Goat κ-casein (CSN3) gene comprises five exons with the mRNA coding region for mature protein spanning from exon 3 to exon 4. The κ-casein locus has been widely investigated and several genetic variants have been found in different goat breeds. At protein level, AIEF and BIEF groups corresponding to isoelectric point 5.53 and 5.78, respectively, have been identified. In this study, exon …
Locally tame plane polynomial automorphisms
2010
Abstract For automorphisms of a polynomial ring in two variables over a domain R , we show that local tameness implies global tameness provided that every 2-generated locally free R -module of rank 1 is free. We give examples illustrating this property.
Anomalous partially hyperbolic diffeomorphisms III: Abundance and incoherence
2020
Let $M$ be a closed 3-manifold which admits an Anosov flow. In this paper we develop a technique for constructing partially hyperbolic representatives in many mapping classes of $M$. We apply this technique both in the setting of geodesic flows on closed hyperbolic surfaces and for Anosov flows which admit transverse tori. We emphasize the similarity of both constructions through the concept of $h$-transversality, a tool which allows us to compose different mapping classes while retaining partial hyperbolicity. In the case of the geodesic flow of a closed hyperbolic surface $S$ we build stably ergodic, partially hyperbolic diffeomorphisms whose mapping classes form a subgroup of the mapping…
Homomorphisms between Algebras of Holomorphic Functions
2014
For two complex Banach spaces X and Y, in this paper, we study the generalized spectrum M-b(X,Y) of all nonzero algebra homomorphisms from H-b(X), the algebra of all bounded type entire functions on X into H-b(Y). We endow M-b(X,Y) with a structure of Riemann domain over L(X*,Y*) whenever.. is symmetrically regular. The size of the fibers is also studied. Following the philosophy of ( Aron et al., 1991), this is a step to study the set M-b,M-infinity (X,B-Y) of all nonzero algebra homomorphisms from Hb(b) (X) into H-infinity (B-Y) of bounded holomorphic functions on the open unit ball of Y and M-infinity(B-X,B-Y) of all nonzero algebra homomorphisms from H-infinity(B-X) into H infinity (B-Y…