Search results for "Disequilibrium"
showing 10 items of 174 documents
An APOE haplotype associated with decreased ε4 expression increases the risk of late onset Alzheimer's disease.
2011
This paper addresses a tenet of the literature on APOE, i.e., the relationship between the effects of the e4, one of the established genetic risk factor for Alzheimer's disease (AD), and its expression levels as determined by APOE promoter polymorphisms. Five polymorphisms (-491 rs449647, -427 rs769446, -219 rs405509, and e rs429358-rs7412) were studied in 1308 AD patients and 1082 control individuals from the Central-Northern Italy. Major findings of the present study are the following: 1) the variants -219T and e4 increase the risk for late onset AD (LOAD) when they are both present in cis on the same chromosome (in phase); 2) the correlation between the haplotype (-219T/e4) and AD risk p…
APOE epsilon variation in multiple sclerosis susceptibility and disease severity: some answers
2006
Background: Previous studies have examined the role of APOE variation in multiple sclerosis (MS), but have lacked the statistical power to detect modest genetic influences on risk and disease severity. The meta- and pooled analyses presented here utilize the largest collection, to date, of MS cases, controls, and families genotyped for the APOE epsilon polymorphism. Methods: Studies of MS and APOE were identified by searches of PubMed, Biosis, Web of Science, Cochrane Review, and Embase. When possible, authors were contacted for individual genotype data. Meta-analyses of MS case-control data and family-based analyses were performed to assess the association of APOE epsilon genotype with dis…
A TNF-α Promoter Polymorphism Is Associated with Juvenile Onset Psoriasis and Psoriatic Arthritis
1997
Tumor necrosis factor-α is considered to be one of the important mediators in the pathogenesis of psoriasis. A strong association of juvenile onset psoriasis with the major histocompatibility complex encoded HLA-Cw6 antigen has been reported but it is unclear whether Cw6 itself or a closely linked gene is involved in the pathogenesis. This study has focused on the association of promoter polymorphisms of the major histocompatibility complex encoded tumor necrosis factor-α gene with psoriasis and psoriatic arthritis. Tumor necrosis factor-α promoter polymorphisms were sought by sequence-specific oligonucleotide hybridization and by direct sequencing in Caucasian patients with juvenile onset …
Bicausative matrices to measure structural change: Are they a good tool?
1999
The causative-matrix method to analyze temporal change assumes that a matrix transforms one Markovian transition matrix into another by a left multiplication of the first matrix; the method is demand-driven when applied to input-output economics. An extension is presented without assuming the demand-driven or supply-driven hypothesis. Starting from two flow matrices X and Y, two diagonal matrices are searched, one premultiplying and the second postmultiplying X, to obtain a result the closer as possible to Y by least squares. The paper proves that the method is deceptive because the diagonal matrices are unidentified and the interpretation of results is unclear. Keywords : Input-Output ; Ch…
Forecast Output Coincidence and Biproportion: Two Criteria to Determine the Orientation of an Economy. Comparison for France (1980-1997)
2002
International audience; The method of forecast output coincidence used to determine if sectors are demand-sided or supply-sided in an input-output framework mixes two effects, the structural effect (choosing between demand and supply side models) and the effect of an exogenous factor (final demand or added-value). The note recalls that another method is possible, the comparison of the stability of technical and allocation coefficients, generalized by the biproportional filter: if for a sector, after biproportional filtering, column coefficients are more stable than row coefficients, then this sector is declared as not supply-sided (but one cannot decide that it is demand-sided anyway), and …
A biproportional filter to compare technical and allocation coefficient variations
1997
International audience; In input-output analysis there are two alternate possibilities between Leontief's mechanism (fixed technical coefficients) and Ghosh's mechanism (fixed allocation coefficients). Testing the long term consistency of these mechanisms entails comparing input-output matrices over time. This paper challenges the value of proportional filters (separate comparison of column and row coefficients) and introduces the biproportional filter which allows simultaneous comparison of column and rows. An application is proposed using French input-output tables for 1980 and 1993. The stability of column coefficients cannot be taken for granted and generally, for any sector, both rows …
Reconstruction of drip-water δ<sup>18</sup>O based on calcite oxygen and clumped isotopes of speleothems from Bunker Cave…
2013
Abstract. The geochemical signature of many speleothems used for reconstruction of past continental climates is affected by kinetic isotope fractionation. This limits quantitative paleoclimate reconstruction and, in cases where the kinetic fractionation varies with time, also affects relative paleoclimate interpretations. In carbonate archive research, clumped isotope thermometry is typically used as proxy for absolute temperatures. In the case of speleothems, however, clumped isotopes provide a sensitive indicator for disequilibrium effects. The extent of kinetic fractionation co-varies in Δ47 and δ18O so that it can be used to account for disequilibrium in δ18O and to extract the past dri…
X Chromosome Contribution to the Genetic Architecture of Primary Biliary Cholangitis
2021
Background & aims: Genome-wide association studies in primary biliary cholangitis (PBC) have failed to find X chromosome (chrX) variants associated with the disease. Here, we specifically explore the chrX contribution to PBC, a sexually dimorphic complex autoimmune disease. Methods: We performed a chrX-wide association study, including genotype data from 5 genome-wide association studies (from Italy, United Kingdom, Canada, China, and Japan; 5244 case patients and 11,875 control individuals). Results: Single-marker association analyses found approximately 100 loci displaying P < 5 × 10-4, with the most significant being a signal within the OTUD5 gene (rs3027490; P = 4.80 × 10-6; odds…
The analysis of 51 genes in DSM-IV combined type attention deficit hyperactivity disorder: association signals in DRD4, DAT1 and 16 other genes.
2006
Contains fulltext : 35205.pdf (Publisher’s version ) (Closed access) Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder, starting in early childhood and persisting into adulthood in the majority of cases. Family and twin studies have demonstrated the importance of genetic factors and candidate gene association studies have identified several loci that exert small but significant effects on ADHD. To provide further clarification of reported associations and identify novel associated genes, we examined 1,038 single-nucleotide polymorphisms (SNPs) spanning 51 candidate genes involved in the regulation of neurotransmitter pathways, particularly dopamine, nor…
Genome-wide association scan of attention deficit hyperactivity disorder
2008
Contains fulltext : 70191.pdf (Publisher’s version ) (Closed access) Results of behavioral genetic and molecular genetic studies have converged to suggest that genes substantially contribute to the development of attention deficit/hyperactivity disorder (ADHD), a common disorder with an onset in childhood. Yet, despite numerous linkage and candidate gene studies, strongly consistent and replicable association has eluded detection. To search for ADHD susceptibility genes, we genotyped approximately 600,000 SNPs in 958 ADHD affected family trios. After cleaning the data, we analyzed 438,784 SNPs in 2,803 individuals comprising 909 complete trios using ADHD diagnosis as phenotype. We present t…