Copy Number Variants and Their Association With Intracerebral Hemorrhage Risk: A Case–Control Study
ABSTRACT Introduction Intracerebral Hemorrhage (ICH) is a leading cause of morbidity and mortality worldwide and lacks effective therapeutic interventions. Despite previous studies, the genetic underpinnings of ICH remain poorly understood. We sought to investigate the role of copy number variants (CNVs) in ICH pathophysiology to identify novel ...
Savvina Prapiadou +12 more
wiley +1 more source
Variants within the MMP3 gene are associated with achilles tendinopathy: possible interaction with the COL5A1 gene [PDF]
Objectives: Sequence variation within the COL5A1 and TNC genes are known to associate with Achilles tendinopathy. The primary aim of this case-control genetic association study was to investigate whether variants within the matrix metalloproteinase 3 ...
Collins, M +5 more
core +1 more source
Development and External Validation of a Genetic Risk Score for Pain in Rheumatoid Arthritis
Objective Several single‐nucleotide polymorphisms (SNPs) have been associated with chronic pain syndromes. Our objective was to determine whether genetic variants are associated with pain and disease activity in rheumatoid arthritis (RA). Methods Participants were included from two independent RA cohorts: FORWARD (National Databank for Rheumatic ...
Katie J. McMenamin +15 more
wiley +1 more source
Leptin gene polymorphism of Ongole Grade cattle based on single nucleotide polymorphism
Point mutation on exon 2 of leptin gene, which changes amino acid encoding from Arginine to Cysteine, may alters the physiological function of the leptin hormone.
N. Hilmia, D. Rahmat, D. Dudi
doaj +1 more source
A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms [PDF]
We describe a genetic variation map for the chicken genome containing 2.8 million single-nucleotide polymorphisms ( SNPs). This map is based on a comparison of the sequences of three domestic chicken breeds ( a broiler, a layer and a Chinese silkie) with
Aerts, Andrea +114 more
core +3 more sources
Background Body mass index (BMI), glomerular filtration rate (GFR), and pretreatment urate levels have been reported to influence the urate‐lowering response to allopurinol. We investigated whether the fractional excretion of urate (FEUA) also modulates this response and relates to oxypurinol concentrations. We further evaluated its potential influence
Pascal Richette +13 more
wiley +1 more source
Objective: To know whether the effect of interferon-induced protein with tetratricopeptide repeats (IFIT) 1 polymorphism influences the susceptibility of cerebral malaria outcome.
Saw Thu Wah +5 more
doaj +1 more source
Aggregation of Single Nucleotide Polymorphisms in a Human H5N1 Clade 2.2 Hemagglutinin [PDF]
The evolution of H5N1 has attracted significant interest 1-4 due to linkages with avian 5,6 and human infections 7,8. The basic tenets of influenza genetics 9 attribute genetic drift to replication errors caused by a polymerase complex that lacks a ...
Abdelattar Arafa +17 more
core +2 more sources
A new and versatile method for the successful conversion of AFLP-TM markers into simple single locus markers [PDF]
Genetic markers can efficiently be obtained by using amplified fragment length polymorphism (AFLP) fingerprinting because no prior information on DNA sequence is required.
Brugmans, B.W. +4 more
core +2 more sources
Picking single-nucleotide polymorphisms in forests [PDF]
Abstract With the development of high-throughput single-nucleotide polymorphism (SNP) technologies, the vast number of SNPs in smaller samples poses a challenge to the application of classical statistical procedures. A possible solution is to use a two-stage approach for case-control data in which, in the first stage, a screening test selects
Schwarz, Daniel F +3 more
openaire +2 more sources

