Search results for "Allele frequency"
showing 10 items of 224 documents
Prolonged prothrombin time, Factor VII and activated FVII levels in chronic liver disease are partly dependent on Factor VII gene polymorphisms
2005
Abstract Background. Prothrombin time is a benchmark for functional assessment in cirrhosis and Factor VII levels (FVII), crucial in determining the prothrombin time, are genetically determined. Methods. We have evaluated the prothrombin time, a number of haemostatic variables synthesised by the liver (FII, FV, FVII and activated FVII, AT and fibrinogen) and two polymorphisms of the FVII gene (5′F7 and 353R/Q) in: (a) patients with liver cirrhosis ( n = 118), (b) patients with chronic hepatitis ( n = 102) and (c) controls ( n = 100). Results. By one-way analyses of variance, the prothrombin time and the mean levels of the FII, FV, FVIIc, FVIIa, and AT were statistically different between…
The influence of land use on the genetic structure of populations of the common frog Rana temporaria
1990
In order to find out the influence of land use and topographic distance on the genetic structure of populations of the common frog Rana temporaria L. in the Saar-Palatinate lowlands (Federal Republic of Germany), tissue of larvae was examined by means of horizontal starch gel electrophoresis. A total of 24 loci coding for 14 different enzymes were studied. Genotype frequencies, allele frequencies and mean heterozygosity were calculated, and genetic distances using Nei's formula. Strong deviations from the Hardy-Weinberg equilibrium were found; the degree of homozygosity was higher than expected. Separation by highways reduced average heterozygosity as well as genetic polymorphism of local p…
Radial and peripheral clines in northern polymorphic populations of Philaenus spumarius
2009
Geographic variability in the colour polymorphism of Philaenus spumarius (Homoptera) was investigated in the northern parts of Finland, Norway and Sweden. The investigation was directed mainly at peripheral populations south of the Baltic—Arctic divide. The colour phenotypes were found to differ in their “north tolerance”. The phenotypes typ (pt/pt) and lat (pt/pt) were the most, and the phenotype tri (pt/pT) the least tolerant to marginal conditions. Differences in “north tolerance” between the phenotypes cause radial clines to be present in allele frequencies. The radial clines may be caused by the combined effect of several different factors. These include shortness of the thermal growth…
Influence of cytarabine metabolic pathway polymorphisms in acute myeloid leukemia induction treatment
2017
Cytarabine is considered the most effective chemotherapeutic option in acute myeloid leukemia (AML). The impact of 10 polymorphisms in cytarabine metabolic pathway genes were evaluated in 225 adult de novo AML patients. Variant alleles of DCK rs2306744 and CDA rs602950 showed higher complete remission (p = .024, p = .045), with lower survival rates for variant alleles of CDA rs2072671 (p = .015, p = .045, p = .032), rs3215400 (p = .033) and wild-type genotype of rs602950 (p = .039, .014). Induction death (p = .033) and lower survival rates (p = .021, p = .047) were correlated to RRM1 rs9937 variant allele. In addition, variant alleles of CDA rs532545 and rs602950 were related to skin toxici…
Genome-wide Association Studies Identify Genetic Loci Associated with Albuminuria in Diabetes
2016
Elevated concentrations of albumin in the urine, albuminuria, are a hallmark of diabetic kidney disease and are associated with an increased risk for end-stage renal disease and cardiovascular events. To gain insight into the pathophysiological mechanisms underlying albuminuria, we conducted meta-analyses of genome-wide association studies and independent replication in up to 5,825 individuals of European ancestry with diabetes and up to 46,061 without diabetes, followed by functional studies. Known associations of variants in CUBN, encoding cubilin, with the urinary albumin-to-creatinine ratio (UACR) were confirmed in the overall sample (P = 2.4 × 10−10). Gene-by-diabetes interactions were…
Association Between the HLA-A2 Allele and Alzheimer Disease
2006
In the elderly, the most common cause of dementia is Alzheimer disease (AD), which is responsible for the age-related progressive neurodegenerative inflammatory condition mediated by the disease. It has been seen that several genetic and environmental factors are involved in AD onset. Epidemiologic data suggest that some genetic determinants of AD might reside in those polymorphisms that regulate immune inflammatory responses, such as the major histocompatibility complex (MHC). Therefore, several MHC polymorphisms have been in the spotlight of a large number of AD association studies. A possible association of HLA-A2 allele with increased susceptibility to AD has been the subject of debate …
HFE p.H63D polymorphism does not influence ALS phenotype and survival.
2015
It has been recently reported that the p.His63Asp polymorphism of the HFE gene accelerates disease progression both in the SOD1 transgenic mouse and in amyotrophic lateral sclerosis (ALS) patients. We have evaluated the effect of HFE p.His63Asp polymorphism on the phenotype in 1351 Italian ALS patients (232 of Sardinian ancestry). Patients were genotyped for the HFE p.His63Asp polymorphism (CC, GC, and GG). All patients were also assessed for C9ORF72, TARDBP, SOD1, and FUS mutations. Of the 1351 ALS patients, 363 (29.2%) were heterozygous (GC) for the p.His63Asp polymorphism and 30 (2.2%) were homozygous for the minor allele (GG). Patients with CC, GC, and GG polymorphisms did not significa…
EPHA2 polymorphisms and age-related cataract in India.
2012
Objective: We investigated whether previously reported single nucleotide polymorphisms (SNPs) of EPHA2 in European studies are associated with cataract in India. Methods: We carried out a population-based genetic association study. We enumerated randomly sampled villages in two areas of north and south India to identify people aged 40 and over. Participants attended a clinical examination including lens photography and provided a blood sample for genotyping. Lens images were graded by the Lens Opacification Classification System (LOCS III). Cataract was defined as a LOCS III grade of nuclear >= 4, cortical >= 3, posterior sub-capsular (PSC) >= 2, or dense opacities or aphakia/pseudophakia i…
Lack of association between angiotensin converting enzyme polymorphism and sporadic Alzheimer's disease
2002
Epidemiological and pathogenetic evidences suggest a strong association between vascular risk factors and sporadic Alzheimer's disease (sAD). In agreement with the vascular hypothesis of AD, the role of various candidate genes for atherosclerosis has been investigated, leading to conflicting results. In order to clarify the significance of angiotensin-converting enzyme (ACE) gene insertion (I)/deletion (D) polymorphism in a group of patients with sAD, we conducted a case-control study including 149 cases and 149 age and sex matched controls. All subjects were genotyped for ACE and Apolipoprotein E (APOE). There were no significant differences in ACE genotype or allele frequencies between ca…
No association between the cystatin C gene polymorphism and Alzheimer's disease: a case-control study in an Italian population.
2005
Cystatin C is an amyloidogenic protein found together with beta-amyloid in cerebral arteriolar walls of both patients with Alzheimer's Disease (AD) and conghopilic amyloid angiopathy. Several findings implicate cystatin C in the pathogenesis of vascular diseases. Recent genetic association studies proposed cystatin C gene (CST3) as a susceptibility factor for AD, although other reports did not replicate this finding. We conducted a case-control study including 192 probable AD cases and 192 age- and sex-matched controls to test the association between CST3 and AD. Possible interaction between CST3 and age at onset of AD or apolipoprotein E (APOE) was also examined. No significant differences…