Search results for "polymorphism"

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

1267 HSP70-2 POLYMORPHISM AS A RISK FACTOR FOR CAROTID PLAQUE RUPTURE AND CELEBRAL ISCHAEMIA IN OLD TIPE 2 DIABETES-ATHEROSCLEROTIC PATIENTS

2005

Common variants at VRK2 and TCF4 conferring risk of schizophrenia

2011

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Common sequence variants have recently joined rare structural polymorphisms as genetic factors with strong evidence for association with schizophrenia. Here we extend our previous genome-wide association study and meta-analysis (totalling 7 946 cases and 19 036 controls) by examining an expanded set of variants using an enlarged follow-up sample (up to 10 260 cases and 23 500 controls). In addition to previously reported alleles in the major histocompatibility complex region, near neurogranin (NRGN) and in an intron of transcription factor 4 (TCF4), we find two novel variants show…

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

2013

Journal article Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ~9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborat…

Trophic ecology of piscivorous Arctic charr (Salvelinus alpinus (L.)) in subarctic lakes with contrasting food-web structures

2019

The trophic ecology of piscivorous Arctic charr (Salvelinus alpinus (L.); charr) in the food webs of large subarctic lakes is not well understood. We assessed charr diets, parasites, growth, maturity, and stable isotope ratios in Fennoscandian subarctic lakes dominated by monomorphic or polymorphic whitefish (Coregonus lavaretus (L.)) populations. Charr density was low in all lakes, except in profundal habitats. Charr shifted to piscivory at small size (16–25 cm total length) and consumed a range of prey-fish sizes (2–25 cm). Cannibalism was observed in a few individuals from one monomorphic whitefish lake. Charr matured at 37–51 cm (5–8 years old), grew to 52–74 cm maximum observed length …

Biomolecular investigation in osteoarthritis

2012

Genomic Tools for the Characterization of Local Animal Genetic Resources: Application in Mascaruna Goat

2022

Italy contains a large number of local goat populations, some of which do not have a recognized genetic structure. The “Mascaruna” is a goat population reared for milk production in Sicily. In this study, a total of 72 individuals were genotyped with the Illumina Goat_IGGC_65K_v2 BeadChip with the aim to characterize the genetic diversity, population structure and relatedness with another 31 Italian goat populations. The results displayed a moderate level of genetic variability for Mascaruna, in concordance with the estimated values for Italian goats. Runs of homozygosity islands are linked to genes involved in milk production, immune response and local adaptation. Population structure anal…