88 research outputs found
Genetic variants and environmental factors associated with hormonal markers of ovarian reserve in Caucasian and African American women
BackgroundThe ovarian reserve (number and quality of oocytes) is correlated with reproductive potential as well as somatic health, and is likely to have multiple genetic and environmental determinants. Several reproductive hormones are closely linked with the oocyte pool and thus can serve as surrogate markers of ovarian reserve. However, we know little about the underlying genes or genetic variants.MethodsWe analyzed genetic variants across the genome associated with two hormonal markers of ovarian reserve, FSH and anti-Mullerian hormone, in a reproductively normal population of Caucasian (n = 232) and African American (n = 200) women, aged 25-45 years. We also examined the effects of environmental or lifestyle factors on ovarian reserve phenotypes.ResultsWe identified one variant approaching genome-wide significance (rs6543833; P= 8.07 Ă 10â»âž) and several nominal variants nearby and within the myeloid-associated differentiation marker-like (MYADML) gene, that were associated with FSH levels in African American women; these were validated in Caucasian women. We also discovered effects of smoking and oral contraceptive use on ovarian reserve phenotypes, with alterations in several reproductive hormones.ConclusionsThis work is the largest study on ovarian reserve in women of reproductive age and is the only genome-wide study on ovarian reserve markers. The genes containing or near the identified variants have no known roles in ovarian biology and represent interesting candidate genes for future investigations. The discovery of genetic markers may lead to better long-range predictions of declining ovarian function, with implications for reproductive and somatic health
High prevalence of a novel mutation in the exon 4 of the low-density lipoprotein receptor gene causing familial hypercholesterolemia in Belgium.
Dosage du mercure dans le gaz naturel par absorption atomique sans flammes Mercury Titration in Natural Gas by Flameless Atomic Absorption
Cet article présente la méthode mise au point par l'Institut Français du Pétrole pour déterminer par absorption atomique sans flamme, les traces de mercure métallique contenu dans un gaz naturel. La méthode d'analyse nécessite une extraction du mercure soit sous forme d'ion mercurique en faisant passer le gaz dans une solution oxydante, soit sous forme d'amalgame avec de l'or ou de l'argent. Le premier mode opératoire s'applique aux échantillons dont la concentration en mercure est supérieure à I ttg/Nm3, le second pour des concentrations inférieures à 5 pg/Nm3. Les seuils de détection sont respectivement 10 ng (en solution) et 0,3 ng (en amalgame). La répétabilité pour 100 ng de mercure (en amalgame) est de ± 7% pour une probabilité de.95 %. En conclusion, dans un échantillon de gaz naturel, compte tenu du volume des prélÚvements effectués, il est possible de détecter des concentrations de l'ordre du nanogramme de mercure par mÚtre cube de gaz. <br> This article describes the method developed by IFP using flameless atomic absorption to determine metallic mercury traces in a natural gas. The analyst method requires a mercury extraction either in the form of mercuric ions by making the gas pass through an oxidizing solution or in the form of an amalgam with gold or silver. The former operating method applies ta samples having a mercury concentration greater than I !ag/Nm3, and the latter for concentrations smaller than 5 (-Lg/Nm3. Detection thresholds are respectively 10 ng (in solution) and 0.3 ng (in amalgam). The repeatability for 100 ng of mercury (in amalgam) is ± 7 % with a probability of 95%. To conclude, in a sample of natural gas, considering the volume of the samples taken, it is possible ta detect concentrations in the vicinity of one nanogrom of mercury per cubic meter of gas
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