43 resultados para Mendelian inheritance


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BACKGROUND: Low plasma 25-hydroxyvitamin D (25[OH]D) concentration is associated with high arterial blood pressure and hypertension risk, but whether this association is causal is unknown. We used a mendelian randomisation approach to test whether 25(OH)D concentration is causally associated with blood pressure and hypertension risk. METHODS: In this mendelian randomisation study, we generated an allele score (25[OH]D synthesis score) based on variants of genes that affect 25(OH)D synthesis or substrate availability (CYP2R1 and DHCR7), which we used as a proxy for 25(OH)D concentration. We meta-analysed data for up to 108 173 individuals from 35 studies in the D-CarDia collaboration to investigate associations between the allele score and blood pressure measurements. We complemented these analyses with previously published summary statistics from the International Consortium on Blood Pressure (ICBP), the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, and the Global Blood Pressure Genetics (Global BPGen) consortium. FINDINGS: In phenotypic analyses (up to n=49 363), increased 25(OH)D concentration was associated with decreased systolic blood pressure (β per 10% increase, -0·12 mm Hg, 95% CI -0·20 to -0·04; p=0·003) and reduced odds of hypertension (odds ratio [OR] 0·98, 95% CI 0·97-0·99; p=0·0003), but not with decreased diastolic blood pressure (β per 10% increase, -0·02 mm Hg, -0·08 to 0·03; p=0·37). In meta-analyses in which we combined data from D-CarDia and the ICBP (n=146 581, after exclusion of overlapping studies), each 25(OH)D-increasing allele of the synthesis score was associated with a change of -0·10 mm Hg in systolic blood pressure (-0·21 to -0·0001; p=0·0498) and a change of -0·08 mm Hg in diastolic blood pressure (-0·15 to -0·02; p=0·01). When D-CarDia and consortia data for hypertension were meta-analysed together (n=142 255), the synthesis score was associated with a reduced odds of hypertension (OR per allele, 0·98, 0·96-0·99; p=0·001). In instrumental variable analysis, each 10% increase in genetically instrumented 25(OH)D concentration was associated with a change of -0·29 mm Hg in diastolic blood pressure (-0·52 to -0·07; p=0·01), a change of -0·37 mm Hg in systolic blood pressure (-0·73 to 0·003; p=0·052), and an 8·1% decreased odds of hypertension (OR 0·92, 0·87-0·97; p=0·002). INTERPRETATION: Increased plasma concentrations of 25(OH)D might reduce the risk of hypertension. This finding warrants further investigation in an independent, similarly powered study.

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This paper develops a framework of risk and protective factors to conceptualise the relationship between HIV-related stigma, asset inheritance and chronic poverty among widows and caregiving children and youth in eastern Africa. Analysis of two qualitative studies with 85 participants in rural and urban areas of Tanzania and Uganda reveals that gendered and generational inequalities and stigmatisation sometimes led to property grabbing and chronic poverty. Human and social capital and preventative measures however may help widows and caregiving young people in HIV-affected households to safeguard land and other assets, within a wider supportive environment that seeks to tackle structural inequalities.

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This article explores the role of women's inheritance and ownership of property in urban Senegal. It shows how being able to inherit and own property promotes the economic and emotional security of widows and their children in urban areas, and discusses the challenges posed by legal pluralism in working on poverty alleviation and social protection in the city.

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Although women's land rights are often affirmed unequivocally in constitutions and international human rights conventions in many African countries, customary practices usually prevail on the ground and often deny women's land inheritance. Yet land inheritance often goes unnoticed in wider policy and development initiatives to promote women's equal access to land. This paper draws on feminist ethnographic research among the Serer ethnic group in two contrasting rural communities in Senegal. Through analysis of land governance, power relations and 'technologies of the self', this article shows how land inheritance rights are contingent on the specific effects of intersectionality in particular places. The contradictions of legal pluralism, greater adherence to Islam and decentralisation led to greater application of patrilineal inheritance practices. Gender, religion and ethnicity intersected with individuals' marital position, status, generation and socio-ecological change to constrain land inheritance rights for women, particularly daughters, and widows who had been in polygamous unions and who remarried. Although some women were aware that they were legally entitled to inherit a share of the land, they tended not to 'demand their rights'. In participatory workshops, micro-scale shifts in women's and men's positionings reveal a recognition of the gender discriminatory nature of customary and Islamic law and a desire to 'change with the times'. While the effects of 'reverse' discourses are ambiguous and potentially reinforce prevailing patriarchal power regimes, 'counter' discourses, which emerged in participatory spaces, may challenge customary practices and move closer to a rights-based approach to gender equality and women's land inheritance.

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A detailed study of the morphology and micro-morphology of Quaternary alluvial calcrete profiles from the Sorbas Basin shows that calcretes may be morphologically simple or complex. The 'simple' profiles reflect pedogenesis occurring after alluvial terrace formation and consist of a single pedogenic horizon near the land surface. The 'complex' profiles reflect the occurrence of multiple calcrete events during terrace sediment aggradation and further periods of pedogenesis after terrace formation. These 'complex' calcrete profiles are consequently described as composite profiles. The exact morphology of the composite profiles depends upon: (1) the number of calcrete-forming events occurring during terrace sediment aggradation; (2) the amount of sediment accretion that occurs between each period of calcrete formation; and (3) the degree of pedogenesis after terrace formation. Simple calcrete profiles are most useful in establishing landform chronologies because they represent a single phase of pedogenesis after terrace formation. Composite profiles are more problematic. Pedogenic calcretes that form within them may inherit carbonate from calcrete horizons occurring lower down in the terrace sediments. In addition erosion may lead to the exhumation of older calcretes within the terrace sediment. Calcrete 'inheritance' may make pedogenic horizons appear more mature than they actually are and produce horizons containing carbonate embracing a range of ages. Calcrete exhumation exposes calcrete horizons whose morphology and radiometric ages are wholly unrelated to terrace surface age. Composite profiles are, therefore, only suitable for chronological studies if the pedogenic horizon capping the terrace sequence can be clearly distinguished from earlier calcrete-forming events. Thus, a detailed morphological/micro-morphological study is required before any chronological study is undertaken. This is the only way to establish whether particular calcrete profiles are suitable for dating purposes. Copyright (C) 2003 John Wiley Sons, Ltd.

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Smallholdings in the rural areas of northwest Syria are a result of land fragmentation that is due to inheritance. Because of rapid population growth combined with land fragmentation, these smallholdings are increasing and cannot sustain the rural households whose sizes and needs are also increasing rapidly. This situation has led to increasing numbers of mates migrating to urban areas in Syria and to neighbouring countries looking for work opportunities. In addition, recent agricultural intensification trends seem to have led to the emergence of a waged labour force which, in the absence of male workers owing to significant rates of migration, is now predominantly female. Agricultural labour use depends upon household characteristics and resources (type of labour used, gender of labour waged/exchanged/familial). The article attempts to present a comprehensive analysis of household labour use in distinctive farming systems in one region of Syria that has undergone great change in recent decades, and examines the changes in the composition of the agricultural labour force. Secondary information, rapid rural appraisals and formal farm surveys were used to gather information on the households in a study area where different farming systems coexist. The results show that the decrease in landholding size, the resulting male migration, and land intensification have resulted in the expansion of female labour in agricultural production, which has been termed in this research a 'feminization of agricultural labour'. This suggests that agricultural research and extension services will have to work more with women farmers and farm workers, seek their wisdom and involve them in technology and tran, fer This is not easy in conservative societies but requires research and extension institutions to take this reality into consideration in their programmes.

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An experiment on restricted suckling of crossbred dairy cows was conducted at the Livestock Research Centre, Tanga in north-east Tanzania. The objective of the experiment was to evaluate the comparative productivity of Bos taurus x Bos indicus cows of medium and high levels of Bos taurus inheritance, whose calves were either bucket-reared or suckled residual milk. Lactation milk yield, length and persistency were 1563 L, 289 days, and 1.0, respectively, for the bucket-reared and 1592 L, 289 days and 1.4, respectively, for the suckling group. Days to observed oestrus, first insemination and conception for cows whose calves were bucket-reared were 47, 74 and 115 days, respectively, and 57, 81 and 126 days, respectively, for the suckling cows. The calf weights were similar at 1 year of age. The productivity of the cows, measured as the annual milk offtake, was not significantly higher for those that suckled their calves than for those whose calves were bucket-reared.

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Biocontainment methods for genetically modified crops closest to commercial reality (chloroplast transformation, male sterility) would be compromised (in absolute terms) by seed-mediated gene flow leading to chloroplast capture. Even in these circumstances, however, it can be argued that biocontainment still represses transgene movement, with the efficacy depending on the relative frequency of seed-and pollen-mediated gene flow. In this study, we screened for crop-specific chloroplast markers from rapeseed (Brassica napus) amongst sympatric and allopatric populations of wild B. oleracea in natural cliff-top populations and B. rapa in riverside and weedy populations. We found only modest crop chloroplast presence in wild B. oleracea and in weedy B. rapa, but a surprisingly high incidence in sympatric (but not in allopatric) riverside B. rapa populations. Chloroplast inheritance models indicate that elevated crop chloroplast acquisition is best explained if crop cytoplasm confers selective advantage in riverside B. rapa populations. Our results therefore imply that chloroplast transformation may slow transgene recruitment in two settings, but actually accelerate transgene spread in a third. This finding suggests that the appropriateness of chloroplast transformation for biocontainment policy depends on both context and geographical location.

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Darwin studied domesticated plants and animals to try to understand the causes of variability. He observed that variation is greatest in the part of the plant most used by humans, but explanations of the causes of this variation had to await the discovery of Mendelian genetics and subsequent advances in the understanding of the structure and mode of action of genes, from the one gene, one enzyme hypothesis to the role of transcriptional regulators. Darwin credited his studies on domesticated plants and animals with demonstrating to him the power of selection. He recognized two forms of human-mediated selection, methodical and unconscious, in addition to natural selection. Selection leaves a signature in the form of reduced diversity in genes that have been the targets of selection and in 'hitch-hiking' genomic regions linked to the target genes. These so-called selective sweeps may serve now to identify genes targeted by selection in early stages of domestication and thus provide a possible guide to crop improvement in future. (C) 2009 The Linnean Society of London, Botanical Journal of the Linnean Society, 2009, 161, 203-212.

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Assaying a large number of genetic markers from patients in clinical trials is now possible in order to tailor drugs with respect to efficacy. The statistical methodology for analysing such massive data sets is challenging. The most popular type of statistical analysis is to use a univariate test for each genetic marker, once all the data from a clinical study have been collected. This paper presents a sequential method for conducting an omnibus test for detecting gene-drug interactions across the genome, thus allowing informed decisions at the earliest opportunity and overcoming the multiple testing problems from conducting many univariate tests. We first propose an omnibus test for a fixed sample size. This test is based on combining F-statistics that test for an interaction between treatment and the individual single nucleotide polymorphism (SNP). As SNPs tend to be correlated, we use permutations to calculate a global p-value. We extend our omnibus test to the sequential case. In order to control the type I error rate, we propose a sequential method that uses permutations to obtain the stopping boundaries. The results of a simulation study show that the sequential permutation method is more powerful than alternative sequential methods that control the type I error rate, such as the inverse-normal method. The proposed method is flexible as we do not need to assume a mode of inheritance and can also adjust for confounding factors. An application to real clinical data illustrates that the method is computationally feasible for a large number of SNPs. Copyright (c) 2007 John Wiley & Sons, Ltd.

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The aim of this study was to test whether resistance of clones of Theobroma cacao ( cocoa) varied between isolates of Moniliophthora (formerly Crinipellis) perniciosa, the cause of witches' broom disease. Developing buds of vegetatively propagated T. cacao grown in greenhouses in the UK were inoculated with 16 000 spores of M. perniciosa per meristem in water, under conditions where water condensed on the inoculated shoot for at least 12 h after inoculation. The proportion of successful inoculations varied between clones and was inversely correlated with time to symptom production or broom formation. A specific interaction was demonstrated among three single-spore isolates of M. perniciosa and the clone Scavina 6 (SCA 6) and a variety of susceptible clones. Isolates Castenhal-I and APC3 were equally likely to infect SCA 6 and the other clones, but isolate Gran Couva A9 never infected SCA 6, although it was as virulent on the other clones. The interaction was maintained when the wetness period was extended to 70 h. Offspring of SCA 6 x Amelonado matings were all susceptible to both Castenhal-I and GC-A5, with no evidence of greater variability in susceptibility to GC-A5 than Castanhal-I. This suggests recessive inheritance of a single homozygous factor conferring resistance to GC-A5, from SCA 6. The progenies were slightly more susceptible to Castanhal-I than GC-A5. The implications for managing the disease are discussed.

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Overall phylogenetic relationships within the genus Pelargonium (Geraniaceae) were inferred based on DNA sequences from mitochondrial(mt)-encoded nad1 b/c exons and from chloroplast(cp)-encoded trnL (UAA) 5' exon-trnF (GAA) exon regions using two species of Geranium and Sarcocaulon vanderetiae as outgroups. The group II intron between nad1 exons b and c was found to be absent from the Pelargonium, Geranium, and Sarcocaulon sequences presented here as well as from Erodium, which is the first recorded loss of this intron in angiosperms. Separate phylogenetic analyses of the mtDNA and cpDNA data sets produced largely congruent topologies, indicating linkage between mitochondrial and chloroplast genome inheritance. Simultaneous analysis of the combined data sets yielded a well-resolved topology with high clade support exhibiting a basic split into small and large chromosome species, the first group containing two lineages and the latter three. One large chromosome lineage (x = 11) comprises species from sections Myrrhidium and Chorisma and is sister to a lineage comprising P. mutans (x = 11) and species from section Jenkinsonia (x = 9). Sister to these two lineages is a lineage comprising species from sections Ciconium (x = 9) and Subsucculentia (x = 10). Cladistic evaluation of this pattern suggests that x = 11 is the ancestral basic chromosome number for the genus.