Expression profiles were generated using Illumina's HWG-6 BeadChips and genotypes came from the Illumina Human HapMap 550 SNP panel. Measured genotype association analyses that accounted for non-independence of family members and employed an additive model were performed using the software package ...
Tavuklarda Marek Hastal'na Kar Direnli Genlerin SNP Genetik Marek's disease (MD), one of the most threatening diseases to poultry industry, is contagious disease of domestic chickens induced by the Marek's disease virus (MDV), a highly infectious and naturally oncogenic alphaherpesvirus. Enhanc...
We then identified all SNPs in strong linkage (r2 ≥ 0.8) with the index SNP at each locus using the 1,000 Genomes CEU data. These analyses defined discreet series of SNPs at 13 loci, which we refer to as supra-threshold RCC-associated loci. HIF-1α, HIF-2α and HIF-1β ...
In details, we dissected the expression data of this dataset in two components: the component of gene expression regulated uniquely by cis-acting alleles (eQTL SNP mapping inside 1 Mb of the gene start or end) and that depending on environmental factors. Both components were then tested for ...
Allelic expression (AE) imbalance between the two alleles of a gene can be used to detect cis-acting regulatory SNPs (rSNPs) in individuals heterozygous for a transcribed SNP (tSNP). In this paper, we propose three tests for AE analysis focusing on phase-unknown data and any degree of ...
Women with a premutation allele are at risk of having a full mutation child with FXS. To investigate the mechanism of repeat expansion, we examined the relationship between a single-nucleotide polymorphism (SNP) variant that is linked to repeat expansion in haplogroup D and a replication origin ...
Methods: RNA was extracted from positively selected CD56+, CD8+, and CD4+ mononuclear cells and the 'residual' cells from 12 RA patients heterozygous for the PTPN22 C1858T single nucleotide polymorphism (SNP) (rs2476601). Relative allelic expression was measured by single base extension (SBE) ...
In the present study, we tested the allelic imbalance of the C861G single nucleotide polymorphism (SNP) of HTR1B in the frontal cortex of suicide victims.The study was conducted using 3 sets of samples. First, C861G allele-specific mRNA levels in the frontal cortex were compared between ...
However, in 97% of these cases a distal cis-acting SNP within a +/1Mbp window was found that explained the observed CpG distribution, excluding the hypothesis of epigenetic inheritance for these clear-cut trimodal sites. Using power analysis, we showed that in 46% of all cases, the closest...
To establish disease association, disparate promoter SNP distributions correlating with the differential expression were tested on larger cohorts. Our approach yielded 26 candidate genes differentially expressed between patients and controls. Whereas BLP2 and CIAS1 seem to be trans-regulated, as the ...