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A Whole-Genome Association Study of Major Determinants for Host Control of HIV-1
Using a whole-genome association strategy, polymorphisms that explain nearly 15% of the variation among individuals in viral load during the asymptomatic set-point period of infection are identified.
Natural selection on EPAS1 (HIF2α) associated with low hemoglobin concentration in Tibetan highlanders
- C. Beall, G. Cavalleri, Yongjun Zheng
- BiologyProceedings of the National Academy of Sciences
- 7 June 2010
Evidence for genetic selection at the EPAS1 locus from the GWADS study is supported by the replicated studies associating function with the allelic variants.
Inferences from DNA data: population histories, evolutionary processes and forensic match probabilities
A flexible class of Metropolis–Hastings algorithms for drawing inferences about population histories and mutation rates from deoxyribonucleic acid (DNA) sequence data is developed, which simplifies likelihood calculations and permits a wide class of mutation models to be employed, so that many different types of DNA sequence data can be analysed within this framework.
Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1.
Patients with drug-resistant epilepsy were more likely to have the CC genotype at ABCB1 3435 than the TT genotype, implying that the polymorphism may not itself be causal but rather may be linked with the causal variant.
Genetic variability in the regulation of gene expression in ten regions of the human brain
This study presents a large, exon-specific eQTL data set covering ten human brain regions and finds that cis-eQTL signals (within 1 Mb of their target gene) were numerous, and many acted heterogeneously among regions and exons.
A novel polymorphism associated with lactose tolerance in Africa: multiple causes for lactase persistence?
A cohort study of lactose digester and non-digester Sudanese volunteers shows there is no association of -13910*T or the A haplotype with lactase persistence, and reveals the complexity of this phenotypic polymorphism and highlights the limitations of C-13910T as a diagnostic test for lact enzyme persistence status, at least for people with non-European ancestry.
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1
These findings implicate pathways that integrate epidermal barrier dysfunction with innate and adaptive immune dysregulation in psoriasis pathogenesis and report compelling evidence for an interaction between the HLA-C and ERAP1 loci.
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity
A meta-analysis of genome-wide association studies and independent data sets genotyped on the Immunochip identified 15 new susceptibility loci, increasing to 36 the number associated with psoriasis in European individuals, and identified five independent signals within previously known loci.
A Genome-Wide Investigation of SNPs and CNVs in Schizophrenia
These data suggest that very few schizophrenia patients share identical genomic causation, potentially complicating efforts to personalize treatment regimens and support the emerging view that rare deleterious variants may be more important in schizophrenia predisposition than common polymorphisms.
The transcriptional landscape of age in human peripheral blood
Differences between transcriptomic age and chronological age are associated with biological features linked to ageing, such as blood pressure, cholesterol levels, fasting glucose, and body mass index and the transcriptomic prediction model adds biological relevance and complements existing epigenetic prediction models.