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Are minor alleles more likely to be risk alleles? [PDF]
Genome-wide association studies (GWASs) have revealed relationships between over 57,000 genetic variants and diseases. However, unlike Mendelian diseases, complex diseases arise from the interplay of multiple genetic and environmental factors. Natural selection has led to a high tendency of risk alleles to be enriched in minor alleles in Mendelian ...
Kido, Takashi+10 more
openaire +5 more sources
Apolipoprotein A1 (APOA1) is a potential biomarker because of its variable concentration in different types of cancers. The current study is the first of its kind to evaluate the association between the APOA1 genotypes of −75 G/A and +83 C/T in tandem ...
Javid A. Magray+11 more
doaj +1 more source
Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. [PDF]
One fundamental but understudied mechanism of gene regulation in disease is allele-specific expression (ASE), the preferential expression of one allele.
A Chess+68 more
core +1 more source
The bovine lymphocyte antigen (BoLA-DRB3) gene is an important region that codes for glycoproteins responsible for the initiation of an immune response.
Lwamkelekile Sitshilelo Mkize+1 more
doaj +1 more source
Use of allele specific PCR to investigate the presence of β-casein polymorphism in Holstein-Friesian cows [PDF]
Following the “one health” principle, we have conducted optimization of a protocol for β-casein genotyping in cattle in order to select cows with exclusively the A2A2 genotype.
Ristanić Marko+6 more
doaj +1 more source
Allelic diversity of S-RNase alleles in diploid potato species [PDF]
The S-ribonuclease sequences of 16 S-alleles derived from diploid types of Solanum are presented. A phylogenetic analysis and partial phenotypic analysis support the conclusion that these are functional S-alleles. S-Ribonucleases (S-RNases) control the pistil specificity of the self-incompatibility (SI) response in the genus Solanum and several other ...
Daniel Dzidzienyo+5 more
openaire +5 more sources
Epigenetic information is characterized by its stable transmission during mitotic cell divisions and plasticity during development and differentiation. This duality is in contrast to genetic information, which is stable and identical in all cells in an ...
Maxwell P. Lee
doaj +1 more source
Background We wanted to quantify HLA-A and -B allele and haplotype frequencies in Alabama hemochromatosis probands with HFE C282Y homozygosity and controls, and to compare results to those in other populations.
Barton James C, Acton Ronald T
doaj +1 more source
Background The aim of the study was to investigate differences in HLA‐I alleles between lung adenocarcinoma patients and healthy controls and determine their association with PD‐L1 expression and tumor mutational burden (TMB) to understand the mechanism ...
Xuanpeng Wu+9 more
doaj +1 more source
Assortative human pair-bonding for partner ancestry and allelic variation of the dopamine receptor D4 (DRD4) gene [PDF]
The 7R allele of the dopamine receptor D4 gene has been associated with attention-deficit hyperactivity disorder and risk taking. On the cross-population scale, 7R allele frequencies have been shown to be higher in populations with more of a history of ...
Anna Dreber+15 more
core +3 more sources