Articles of the day

The FTO A/T Polymorphism and Elite Athletic Performance: a Study Involving Three Groups of European Athletes

L.Alejandro , S.Marek , B.Lauren , C.Pawel , M.Agnieszka , E.Nir , B.Ruth , N.Emiliya , B.Elvira , S.Roza , R.Maytal , S.Yael , W.Alun , A.Ildus


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Objective: The FTO A/T polymorphism (rs9939609) is a strong candidate to influence obesity-related traits. Elite athletes\ud from many different sporting disciplines are characterized by low body fat. Therefore, the aim of this study was to assess\ud whether athletic status is associated with the FTO A/T polymorphism.\ud Subjects and Methods: A large cohort of European Caucasians from Poland, Russia and Spain were tested to examine the\ud association between FTO A/T polymorphism (rs9939609) and athletic status. A total of 551 athletes were divided by type of\ud sport (endurance athletes, n = 266 vs. sprint/power athletes, n = 285) as well as by level of competition (elite-level vs.\ud national-level). The control group consisted of 1,416 ethnically-matched, non-athletic participants, all Europeans.\ud Multinomial logistic regression analyses were conducted to assess the association between FTO A/T genotypes and\ud athletic status/competition level.\ud Results: There were no significantly greater/lesser odds of harbouring any type of genotype when comparing across athletic\ud status (endurance athletes, sprint/power athletes or control participants). These effects were observed after controlling for\ud sex and nationality. Furthermore, no significantly greater/lesser odds ratios were observed for any of the genotypes in\ud respect to the level of competition (elite-level vs. national-level).\ud Conclusion: The FTO A/T polymorphism is not associated with elite athletic status in the largest group of elite athletes\ud studied to date. Large collaborations and data sharing between researchers, as presented here, are strongly recommended\ud to enhance the research in the field of exercise genomics. E-pub: e6057

Meta-Analysis of Gene-Based Genome-Wide Association Studies of Bone Mineral Density in Chinese and European Subjects

X.SM , S.PC , K.AWC , B.CH , C.CL


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Summary Gene-based association approach could be regarded as a complementary analysis to the single SNP association analysis. We meta-analyzed the findings from the gene-based association approach using the genome-wide association studies (GWAS) data from Chinese and European subjects, confirmed several well established bone mineral density (BMD) genes, and suggested several novel BMD genes. Introduction The introduction of GWAS has greatly increased the number of genes that are known to be associated with common diseases. Nonetheless, such a single SNP GWAS has a lower power to detect genes with multiple causal variants. We aimed to assess the association of each gene with BMD variation at the spine and hip using gene-based GWAS approach. Methods We studied 778 Hong Kong Southern Chinese (HKSC) women and 5,858 Northern Europeans (dCG); age, sex, and weight were adjusted in the model. The main outcome measure was BMD at the spine and hip. Results Nine genes showed suggestive p value in HKSC, while 4 and 17 genes showed significant and suggestive p values respectively in dCG. Meta-analysis using weighted Z-transformed test confirmed several known BMD genes and suggested some novel ones at 1q21.3, 9q22, 9q33.2, 20p13, and 20q12. Top BMD genes were significantly associated with connective tissue, skeletal, and muscular system development and function (p<0.05). Gene network inference revealed that a large number of these genes were significantly connected with each other to form a functional gene network, and several signaling pathways were strongly connected with these gene networks. Conclusion Our gene-based GWAS confirmed several BMD genes and suggested several novel BMD genes. Genetic contribution to BMD variation may operate through multiple genes identified in this study in functional gene networks. This finding may be useful in identifying and prioritizing candidate genes/loci for further study. © International Osteoporosis Foundation and National Osteoporosis Foundation 2011.published_or_final_versionSpringer Open Choice, 21 Feb 201

Multi-tool formaldehyde measurement in simulated and real atmospheres for indoor air survey and concentration change monitoring

C.George , L.Chiappini , R.Dagnelie , M.Sassine , F.Fuvel , S.Fable , T.Tran-Thi


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Formaldehyde is of particular health concern since it is carcinogenic for human and ubiquitous in indoor air where people spend most of their time. Therefore, it is important to have suitable methods and techniques to measure its content in indoor air. In the present work, four different techniques have been tested in the INERIS exposure chamber and in indoor environments in comparison to a standard active method: passive sampling method based on the reaction of 2,4-dinitrophenylhydrazine with formaldehyde, two on-line continuous monitoring systems based on fluorescence and UV measurements and a portable commercialised analyser based on electrochemical titration. Two formaldehyde concentrations, about 10 and 25 g m3 were generated in an exposure chamber under controlled conditions of temperature, relative humidity, and wind speed to simulate real conditions and assess potential influence on passive sampling and continuous systems response. Influence of sampling periods on passive sampling has also been evaluated. The real atmosphere experiments have been performed in four different indoor environments: an office, a furniture shop, a shopping mall, and residential dwellings in which several potential formaldehyde sources linked to household activities have been tested. The analytical and sampling problems associated with each measurement method have been identified and discussed. An overall agreement between each technique has been observed and continuous analyzers allowed for formaldehyde concentrations change monitoring and secondary formation of that pollutant observation.

Control of IBMIR in Neonatal Porcine Islet Xenotransplantation in Baboons

S.A. , H.M. , P.P. , R.S. , N.M. , H.W. , B.H. , S.E. , H.J. , L.D. , B.H. , P.S. , L.A. , D.A. , O.P. , C.P.


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Article first published online: 19 MAY 2014The instant blood-mediated inflammatory reaction (IBMIR) is a major obstacle to the engraftment of intraportal pig islet xenografts in primates. Higher expression of the galactose-α1,3-galactose (αGal) xenoantigen on neonatal islet cell clusters (NICC) than on adult pig islets may provoke a stronger reaction, but this has not been tested in the baboon model. Here, we report that WT pig NICC xenografts triggered profound IBMIR in baboons, with intravascular clotting and graft destruction occurring within hours, which was not prevented by anti-thrombin treatment. In contrast, IBMIR was minimal when recipients were immunosuppressed with a clinically relevant protocol and transplanted with NICC from αGal-deficient pigs transgenic for the human complement regulators CD55 and CD59. These genetically modified (GM) NICC were less susceptible to humoral injury in vitro than WT NICC, inducing significantly less complement activation and thrombin generation when incubated with baboon platelet-poor plasma. Recipients of GM NICC developed a variable anti-pig antibody response, and examination of the grafts 1 month after transplant revealed significant cell-mediated rejection, although scattered insulin-positive cells were still present. Our results indicate that IBMIR can be attenuated in this model, but long-term graft survival may require more effective immunosuppression or further donor genetic modification.W. J. Hawthorne, E. J. Salvaris, P. Phillips, J. Hawkes, D. Liuwantara, H. Burns, H. Barlow, A. B. Stewart, S. B. Peirce, M. Hu, A. M. Lew, S. C. Robson, M. B. Nottle, A. J. F. D'Apice, P. J. O'Connell and P. J. Cowa

Composes metalliques de nickel et gallium sur gaas par codeposition en ultravide

A.Guivarc'H , J.Caulet , Y.Ballini , A.Chomette , B.Le


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Resume : Nous avons etudie la codeposition de couches minces de nickel et de gallium sur des substrats de GaAs et GaAs dans la perspective d'une epitaxie d'un compose metallique, si possible thermodynamiquement stable. Les codepots ont ete realises a temperature ambiante dans un bati d'epitaxie par jets moleculaires equipe d'un canon a electrons pour l'evaporation du nickel. Quatre techniques ont ete mises en oeuvre pour controler la composition ; deux ex situ : la retrodiffusion d'ions He+ de 2 MeV , qui nous a servi de reference, et l'analyse X dans un microscope electronique a balayage ; et deux in situ : les spectroscopies de photo-emission electronique X et UV. En UPS nous avons utilise d'une part l'evolution de la forme de la bande de valence en fonction de la composition, d'autre part le deplacement chimique du doublet Ga3d par rapport au niveau de Fermi du au transfert de charge entre Ni et Ga. Les couches deposees ont ete caracterisees par diffraction X sur goniometre a poudre -2 equipe d'un monochromateur arriere. Les caracterisations electriques et par canalisation d'ions He+ montrent que la resistivite est minimale et la canalisation maximale pour les couches les mieux texturees, correspondant aux composes definis NiGa et Ni2Ga3. Ces composes ont des conductivites du meme ordre de grandeur que les siliciures de metaux de transition.
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