A társadalmak környezeti sebezhetősége, ellenálló- és alkalmazkodó képessége:a korai történelmi példáktól a sérülékenység globalizációjáig (Environmental vulnerability, resilience and adaptation capacities of societies: their historical examples and globalization)

Detailed phylogenetic tree of the haplogroup Q3-L275. 47 Q3-L275 samples and 1 Q1a-M346 outgroup. Constructed with the Phylomurka software using MP criteria, from the alignment obtained with read depth > = 2, base quality > = 15 and mapping quality > = 10, call rate = 60%. (XLSX 279 kb

Loss of Cardioprotective Effects at the ADAMTS7 Locus as a Result of Gene-Smoking Interactions

BACKGROUND: Common diseases such as coronary heart disease (CHD) are complex in etiology. The interaction of genetic susceptibility with lifestyle factors may play a prominent role. However, gene-lifestyle interactions for CHD have been difficult to identify. Here, we investigate interaction of smoking behavior, a potent lifestyle factor, with genotypes that have been shown to associate with CHD risk. METHODS: We analyzed data on 60 919 CHD cases and 80 243 controls from 29 studies for gene-smoking interactions for genetic variants at 45 loci previously reported to be associated with CHD risk. We also studied 5 loci associated with smoking behavior. Study-specific gene-smoking interaction effects were calculated and pooled using fixed-effects meta-analyses. Interaction analyses were declared to be significant at a P value of <1.0x10(-3) (Bonferroni correction for 50 tests). RESULTS: We identified novel gene-smoking interaction for a variant upstream of the ADAMTS7 gene. Every T allele of rs7178051 was associated with lower CHD risk by 12% in never-smokers (P= 1.3x10(-16)) in comparison with 5% in ever-smokers (P= 2.5x10(-4)), translating to a 60% loss of CHD protection conferred by this allelic variation in people who smoked tobacco (interaction P value= 8.7x10(-5)). The protective T allele at rs7178051 was also associated with reduced ADAMTS7 expression in human aortic endothelial cells and lymphoblastoid cell lines. Exposure of human coronary artery smooth muscle cells to cigarette smoke extract led to induction of ADAMTS7. CONCLUSIONS: Allelic variation at rs7178051 that associates with reduced ADAMTS7 expression confers stronger CHD protection in never-smokers than in ever-smokers. Increased vascular ADAMTS7 expression may contribute to the loss of CHD protection in smokers.Peer reviewe

Frequency of the major Y-chromosome haplogroups in North Africa and surrounding regions.

<p>Intensity of the colors reflects the frequency of a haplogroup in the studied populations. A) Location of the analyzed populations. B–F) Frequency distribution of haplogroups E-M81, E-M78, E-M123, J-M267, and J-M172 respectively.</p

Y-chromosome population structure.

<p>A) Principal component analysis of haplogroups frequencies. B) Multidimensional scaling plot based on R_ST distances between populations derived from Y-STR data.</p

Genome-wide population structure.

<p>A) Principal component analysis of ∼44,000 SNPs showing the top two components. B) Maximum likelihood tree showing populations relationships.</p

The genetic landscape of Mediterranean North African populations through complete mtDNA sequences

<p><b>Background:</b> The genetic composition of human North African populations is an amalgam of different ancestral components coming from the Middle East, Europe, south-Saharan Africa and autochthonous to North Africa. This complex genetic pattern is the result of migrations and admixtures in the region since Palaeolithic times.</p> <p><b>Aims:</b> The objective of the present study is to refine knowledge of the population history of North African populations through the analysis of complete mitochondrial sequences.</p> <p><b>Subjects and methods:</b> This study has sequenced complete mitochondrial DNAs (mtDNAs) in several North African and neighbouring individuals.</p> <p><b>Results:</b> The mtDNA haplogroup classification and phylogeny shows a high genetic diversity in the region as a result of continuous admixture. The phylogenetic analysis allowed us to identify a new haplogroup characterised by positions 10 101 C and 146 C (H1v2), a sub-branch of H1v, which is restricted to North Africa and whose origins are estimated as ∼4000 years ago.</p> <p><b>Conclusions:</b> The analysis of the complete mtDNA genome has allowed for the identification of a North African sub-lineage that might be ignored by the analysis of partial mtDNA control region sequences, highlighting the phylogeographic relevance of mtDNA complete sequence analysis.</p

North_African_Ychromosome_dataset.vcf

This file is a VCF (variant call format) that contains information the genotypes of each sample for each position

Viola thibaudieri Franch. et Savat.

原著和名: タデスミレ科名: スミレ科 = Violaceae採集地: 長野県 松本市 袴越山 (信濃 袴越山)採集日: 1979/6/2採集者: 萩庭丈壽整理番号: JH037691国立科学博物館整理番号: TNS-VS-98769

<i>J</i>‑Resolved ¹H NMR 1D-Projections for Large-Scale Metabolic Phenotyping Studies: Application to Blood Plasma Analysis

¹H nuclear magnetic resonance (NMR) spectroscopy-based metabolic phenotyping is now widely used for large-scale epidemiological applications. To minimize signal overlap present in 1D ¹H NMR spectra, we have investigated the use of 2D <i>J</i>-resolved (JRES) ¹H NMR spectroscopy for large-scale phenotyping studies. In particular, we have evaluated the use of the 1D projections of the 2D JRES spectra (pJRES), which provide single peaks for each of the <i>J</i>-coupled multiplets, using 705 human plasma samples from the FGENTCARD cohort. On the basis of the assessment of several objective analytical criteria (spectral dispersion, attenuation of macromolecular signals, cross-spectral correlation with GC-MS metabolites, analytical reproducibility and biomarker discovery potential), we concluded that the pJRES approach exhibits suitable properties for implementation in large-scale molecular epidemiology workflows

Additional file 3: Table S2. of Phylogeography of human Y-chromosome haplogroup Q3-L275 from an academic/citizen science collaboration

Genotypes of the individual samples. (XLSX 36 kb