New genetic loci link adipose and insulin biology to body fat distribution

Body fat distribution is a heritable trait and a well-established predictor of adverse metabolic outcomes, independent of overall adiposity. To increase our understanding of the genetic basis of body fat distribution and its molecular links to cardiometabolic traits, here we conduct genome-wide association meta-analyses of traits related to waist and hip circumferences in up to 224,459 individuals. We identify 49 loci (33 new) associated with waist-to-hip ratio adjusted for body mass index (BMI), and an additional 19 loci newly associated with related waist and hip circumference measures (P < 5 × 10−8). In total, 20 of the 49 waist-to-hip ratio adjusted for BMI loci show significant sexual dimorphism, 19 of which display a stronger effect in women. The identified loci were enriched for genes expressed in adipose tissue and for putative regulatory elements in adipocytes. Pathway analyses implicated adipogenesis, angiogenesis, transcriptional regulation and insulin resistance as processes affecting fat distribution, providing insight into potential pathophysiological mechanisms.

Genetic studies of body mass index yield new insights for obesity biology

Obesity is heritable and predisposes to many diseases. To understand the genetic basis of obesity better, here we conduct a genome-wide association study and Metabochip meta-analysis of body mass index (BMI), a measure commonly used to define obesity and assess adiposity, in up to 339,224 individuals. This analysis identifies 97 BMI-associated loci (P < 5 × 10−8), 56 of which are novel. Five loci demonstrate clear evidence of several independent association signals, and many loci have significant effects on other metabolic phenotypes. The 97 loci account for ~2.7% of BMI variation, and genome-wide estimates suggest that common variation accounts for >20% of BMI variation. Pathway analyses provide strong support for a role of the central nervous system in obesity susceptibility and implicate new genes and pathways, including those related to synaptic function, glutamate signalling, insulin secretion/action, energy metabolism, lipid biology and adipogenesis.

Portrait of David Baumgardt with Marie Zweig Portraits Groups

Digital Image

Moritz and Caroline Lenel and their descendants : The assimiliation of the family and their fate during the Nazi era /

Family history of the Lenel family

Directional dominance on stature and cognition in diverse human populations

Homozygosity has long been associated with rare, often devastating, Mendelian disorders1, and Darwin was one of the first to recognize that inbreeding reduces evolutionary fitness2. However, the effect of the more distant parental relatedness that is common in modern human populations is less well understood. Genomic data now allow us to investigate the effects of homozygosity on traits of public health importance by observing contiguous homozygous segments (runs of homozygosity), which are inferred to be homozygous along their complete length. Given the low levels of genome-wide homozygosity prevalent in most human populations, information is required on very large numbers of people to provide sufficient power3, 4. Here we use runs of homozygosity to study 16 health-related quantitative traits in 354,224 individuals from 102 cohorts, and find statistically significant associations between summed runs of homozygosity and four complex traits: height, forced expiratory lung volume in one second, general cognitive ability and educational attainment (P < 1 × 10−300, 2.1 × 10−6, 2.5 × 10−10 and 1.8 × 10−10, respectively). In each case, increased homozygosity was associated with decreased trait value, equivalent to the offspring of first cousins being 1.2 cm shorter and having 10 months’ less education. Similar effect sizes were found across four continental groups and populations with different degrees of genome-wide homozygosity, providing evidence that homozygosity, rather than confounding, directly contributes to phenotypic variance. Contrary to earlier reports in substantially smaller samples5, 6, no evidence was seen of an influence of genome-wide homozygosity on blood pressure and low density lipoprotein cholesterol, or ten other cardio-metabolic traits. Since directional dominance is predicted for traits under directional evolutionary selection7, this study provides evidence that increased stature and cognitive function have been positively selected in human evolution, whereas many important risk factors for late-onset complex diseases may not have been.

A note on the Berry phase for systems having one degree of freedom

A one-dimensional arbitrary system with quantum Hamiltonian H(q, p) is shown to acquire the 'geometric' phase gamma (C)=(1/2) contour integral c(Podqo-qodpo) under adiabatic transport q to q+q+qo(t) and p to p+po(t) along a closed circuit C in the parameter space (qo(t), po(t)). The non-vanishing nature of this phase, despite only one degree of freedom (q), is due ultimately to the underlying non-Abelian Weyl group. A physical realisation in which this Berry phase results in a line spread is briefly discussed.

Fin de millénaire eli maailmanlopun satiiri : Frédéric Beigbederin Au secours pardon, Marie Darrieussecqin Truismes ja Michel Houellebecqin La Possibilité d'une île

Pro gradu -työni käsittelee ranskalaisen nykykirjallisuuden yhteiskunnallista suuntausta, jota kirjallisuudentutkija Ruth Cruickshank kutsuu fin de millénaire -kirjallisuudeksi. Tutkimani teokset ovat Frédéric Beigbederin Au secours pardon (2007), Marie Darrieussecqin Truismes (1996) ja Michel Houellebecqin La Possibilité d'une île (2005). Pohdin, millaisena ja millaisin keinoin teokset kuvaavat seksuaalisuutta ja sen tulevaisuudennäkymiä kulutusyhteiskunnassa, ja millaisiin yhteiskunnallisiin olosuhteisiin niiden havainnot perustuvat. Hahmottelen reittejä, joita pitkin globaalin mittakaavan yhteiskunnalliset muutokset vaikuttavat ihmisten intiimeihin tunteisiin ja ihmissuhteisiin. Seksuaalisuuden tarkastelun avulla osoitan, että ranskalaisessa nykykirjallisuudessa ilmenee varsin yhteneviä näkemyksiä ja uhkakuvia aikamme sosiaalisesta todellisuudesta. Tällä tavoin tarkennan ja vankennan vielä hajanaista fin de millénaire -käsitettä. Fin de millénaire -kirjallisuuden oma lajityyppi on massakulttuurin, esimerkiksi viihteen ja mainosten, kielestä vaikutteita ammentava dystopian ja satiirin liitto. Kuten Cruickshank kirjoittaa, fin de millénaire -kirjallisuus heijastaa Ranskassa vuosituhannen vaihteessa korostunutta tunnetta käännekohtaan saapumisesta. Dystopian ohella voidaankin puhua myös apokalyptisesta tekstistä, etenkin siksi, että teokset tarjoavat niukasti ratkaisuja kuvaamiinsa ongelmiin. Eritoten Houellebecqin ja Beigbederin teokset käsittelevät tarpeiden luomista kuluttajille seksuaalivietin ja seksuaalisen kilpailun avulla. Kutsun tätä järjestelmää halutaloudeksi, ja käytän sen toiminnan analysoimisessa apuna Michel Foucault'n käsityksiä vallasta ja Jean Baudrillardin käsityksiä kulutusyhteiskunnasta. Halutalouden sosiaalisia seurauksia ovat vieraantuminen, seksuaalisten hierarkioiden jyrkentyminen ja valinnanvapauden kaventuminen. Teosten kuvaamassa yhteiskunnassa erilaiset esimerkiksi sukupuolen, iän ja ulkonäön perusteella rakentuvat seksuaaliset hierarkiat käyvät yhä merkittävämmiksi. Au secours pardon ja La Possibilité d'une île kuvaavat tapahtumaketjua, jossa etenkin heteromiehistä yhä useampi luisuu seksuaaliseen kurjuuteen muun muassa naisten emansipaation sekä yleisen nuoruuden ja kauneuden palvonnan myötä. Truismesissa taas kuvitellaan yhteiskunta, johon feminismi ei ole päässyt vaikuttamaan mutta pornoistuminen on; naisten ruumiista on tullut miesten yhteistä omaisuutta ja seksuaalinen väkivalta on arkipäivää. Sen maailmassa viehättävä ulkonäkö on naisille miltei elinehto. Yleistäen Houellebecqin ja Beigbederin teokset edustavat miesnäkökulmaa ja Darrieussecqin teos naisnäkökulmaa. Teosten näkemyksiä naisten ja miesten välisistä valtasuhteista pohdin naisten seksuaalisesta vallasta kirjoittaneen Henry Laasasen käyttökelpoisten käsitteiden avulla. Kolmea teosta yhdistävät kuvaukset kulttuurista, jossa ihmissuhteet ovat kaupankäyntiä ja seksuaalinen viehätysvoima määrittelee ihmisen arvon. Darrieussecqin teos on lähitulevaisuuteen sijoittuva dystopia, jossa Beigbederin ja Houellebecqin kuvaama arvoliberalismia ja taloudellista liberalismia yhdistävä kulttuuri on vaihtunut uuskonservatiiviseen ja kaksinaismoralistiseen, naisia räikeästi sortavaan yhteiskuntaan. Teoksen kertoja vähättelee itseensä kohdistuvia koskemattomuuden loukkauksia ja pahoittelee kertomuksensa käänteiden säädyttömyyttä varsinkin kuvatessaan omaa haluaan ja seksuaalista subjektiuttaan. Katson teoksen kritisoivan kirjallisuudentutkija Shirley Ann Jordanin termein poliittisen korrektiuden tyranniaa ja peräänkuuluttavan suoraa puhetta pornografiasta ja naisen halusta. Seksuaalisuus toimii tutkimuksessani lähtökohtana, jonka avulla teoksista nousee esiin julma ja rakkaudeton, säälimättömän kilpailun ja väkivallan täyttämä yhteiskunta. Viime kädessä teosten kuvaama maailmanloppu on se, että rakkaus katoaa ihmisten välisistä suhteista, koska rakkaudessa ei ole voiton tavoittelun kannalta mitään järkeä. Satiirin keinojen, kuten päättymättömän ja monikerroksisen ironian, yhdistyminen dystopiaan pelastaa teokset osoittelevalta moralisoinnilta ja tekee niistä toimivaa yhteiskunnallista kirjallisuutta.

Berry phenolics: isolation, analysis, identification, and antioxidant properties

The main objectives in this thesis were to isolate and identify the phenolic compounds in wild (Sorbus aucuparia) and cultivated rowanberries, European cranberries (Vaccinium microcarpon), lingonberries (Vaccinium vitis-idaea), and cloudberries (Rubus chamaemorus), as well as to investigate the antioxidant activity of phenolics occurring in berries in food oxidation models. In addition, the storage stability of cloudberry ellagitannin isolate was studied. In wild and cultivated rowanberries, the main phenolic compounds were chlorogenic acids and neochlorogenic acids with increasing anthocyanin content depending on the crossing partners. The proanthocyanidin contents of cranberries and lingonberries were investigated, revealing that the lingonberry contained more rare A-type dimers than the European cranberry. The liquid chromatography mass spectrometry (LC-MS) analysis of cloudberry ellagitannins showed that trimeric lambertianin C and sanguiin H-10 were the main ellagitannins. The berries, rich in different types of phenolic compounds including hydroxycinnamic acids, proanthocyanidins, and ellagitannins, showed antioxidant activity toward lipid oxidation in liposome and emulsion oxidation models. All the different rowanberry cultivars prevented lipid oxidation in the same way, in spite of the differences in their phenolic composition. In terms of liposomes, rowanberries were slightly more effective antioxidants than cranberry and lingonberry phenolics. Greater differences were found when comparing proanthocyanidin fractions. Proanthocyanidin dimers and trimers of both cranberries and lingonberries were most potent in inhibiting lipid oxidation. Antioxidant activities and antiradical capacities were also studied with hydroxycinnamic acid glycosides. The sinapic acid derivatives of the hydroxycinnamic acid glycosides were the most effective at preventing lipid oxidation in emulsions and liposomes and scavenging radicals in DPPH assay. In liposomes and emulsions, the formation of the secondary oxidation product, hexanal, was inhibited more than that of the primary oxidation product, conjugated diene hydroperoxides, by hydroxycinnamic acid derivatives. This indicates that they are principally chain-breaking antioxidants rather than metal chelators, although they possess chelating activity as well. The storage stability test of cloudberry ellagitannins was performed by storing ellagitannin isolate and ellagitannins encapsulated with maltodextrin at different relative vapor pressures. The storage stability was enhanced by the encapsulation when higher molecular weight maltodextrin was used. The best preservation was achieved when the capsules were stored at 0 or 33% relative vapor pressures. In addition, the antioxidant activities of encapsulated cloudberry extracts were followed during the storage period. Different storage conditions did not alter the antioxidant activity, even though changes in the ellagitannin contents were seen. The current results may be of use in improving the oxidative stability of food products by using berries as natural antioxidants.

Les fleuves dans l'œuvre romanesque de Jean-Marie Gustave Le Clézio

Relying on Merleau-Ponty's phenomenology of perception and on Mircea Eliade's works on the Sacred and the Profane, this study explores the river as a perceptual space and as the sacred Center in a cosmic vision of the world in twelve of Jean-Marie Gustave Le Clézio's fictional works, from The Interrogation (1963) to Revolutions (2003). In the first chapter, after introducing the field of study, I discuss the relation between the radical subjectivity and the evasiveness of perceiving subjects in Le Clézio's fiction. Next are some thoughts on the relation between Merleau-Ponty's and Le Clézio's ideas. The second chapter studies the river as an experience in the text, first as a topographical space, then as a sound world. The investigations move on to its water as a visual and a tactile phenomenon. Then follows the human use of the river, the (absence of) baths, and the river as a traveling space. The chapter closes with the study of the metaphorical use of the word, occurring mainly in urban space and for phenomena in the sky. The third chapter is organized around the river as the Center of the world in a religious cosmogony, where the river represents the origin of the world and of the human race. The core analysis shows how the middle of the river is a symbolic space of a new beginning. As a sacred space, the river abolishes time as the object of contemplation and as relative immobility from the point of view of a person drifting downstream. The functions of a new beginning and of abolition of time are combined in the symbolic immersions in the water. Finally, the dissertation explores other symbolical spaces, such as the unknown destination of the drift, and the river as the Center of a utopia. The chapter closes with the existential agony as a result of the elimination of the Center in the urban environment. In the final chapter, the river is compared to other watercourses : the creek, the brook and the rapids. The river is more of a spatial entity, whereas the actual water is more important in the smaller watercourses. The river is more common than the other watercourses as a topographical element in the landscape, whereas the minor watercourses invite the characters to a closer contact with their element, in immersions and in drinking their water. Finally, the work situates the rivers in a broader context of different fictional spaces in Le Clézio's text.

Marie Curie Symposium 8.-9.12.2011 Helsingissä : tiivistelmät

Suomalaista radiokemiaa esittelevä Marie Curie Symposium järjestetään Helsingissä 8.-9.12.2011 osana Kansainvälistä Kemian Vuotta 2011. Samalla juhlistetaan Marie Curien sata vuotta sitten, 10.12.1911, saamaa kemian Nobel-palkintoa. Marie Curie, maailman ensimmäinen radiokemisti, sai Nobel-palkintonsa luonnossa olevien radioaktiivisten alkuaineiden poloniumin ja radiumin keksimisestä. Tämä raportti sisältää symposiumissa esitettyjen tieteellisten tiedonantojen tiivistelmät

On the Distribution and Fishery Potential of the Japanese Red Crab Chaceon granulatus in the Palauan Archipelago, Western Caroline Islands

A deep-water trapping survey in the Palauan archipelago, Western Caroline Islands, has revealed an abundance of the Japanese red crab, Chaceon granulatus. The recorded depth range (250-900 m) is similar to that of other geryonids, but the large numbers of females caught below 700 m is atypical. Mean yields in excess of 5 kg crabs plus 1 kg shrimp, Heterocarpus laevigatus, by-catch per trap-night were attainable at optimum depths. Chaceon granulatus is apparently a very large geryonid, with maximum weights of 2.02 kg and 1.51 kg recorded for male and female specimens, respectively. A range of body colors was observed: Orange-red shades appear to dominate the deeper waters (below 500 m) while yellow-tan colors are more abundant in the upper reaches. Preliminary evidence suggests that Chaceon granulatus is highly marketable, and the infrastructure in Palau is such that crabs could either be marketed fresh locally or airfreighted to Japan as a quick-frozen product. The high post-trapping survival rates observed indicate that maintaining crabs in live-holding tanks may be a feasible option. The large catches and quality of deep-water crabs taken suggests that the Palauan population of Chaceon granulatus may be able to support a small-scale fishery. It is not yet known whether this population is unusually large or whether these findings typify the deep forereef fauna of the region.