Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

To newly identify loci for age at natural menopause, we carried out a meta-analysis of 22 genome-wide association studies (GWAS) in 38,968 women of European descent, with replication in up to 14,435 women. In addition to four known loci, we identified 13 loci newly associated with age at natural menopause (at P < 5 × 10(-8)). Candidate genes located at these newly associated loci include genes implicated in DNA repair (EXO1, HELQ, UIMC1, FAM175A, FANCI, TLK1, POLG and PRIM1) and immune function (IL11, NLRP11 and PRRC2A (also known as BAT2)). Gene-set enrichment pathway analyses using the full GWAS data set identified exoDNase, NF-κB signaling and mitochondrial dysfunction as biological processes related to timing of menopause.     

Whole-genome sequence of Schistosoma haematobium

Schistosomiasis is a neglected tropical disease caused by blood flukes (genus Schistosoma; schistosomes) and affecting 200 million people worldwide. No vaccines are available, and treatment relies on one drug, praziquantel. Schistosoma haematobium has come into the spotlight as a major cause of urogenital disease, as an agent linked to bladder cancer and as a predisposing factor for HIV/AIDS. The parasite is transmitted to humans from freshwater snails. Worms dwell in blood vessels and release eggs that become embedded in the bladder wall to elicit chronic immune-mediated disease and induce squamous cell carcinoma. Here we sequenced the 385-Mb genome of S. haematobium using Illumina-based technology at 74-fold coverage and compared it to sequences from related parasites. We included genome annotation based on function, gene ontology, networking and pathway mapping. This genome now provides an unprecedented resource for many fundamental research areas and shows great promise for the design of new disease interventions.     

Common sequence variants on 20q11.22 confer melanoma susceptibility

We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019 cases and 2,105 controls. Using pooling, we identified a new melanoma risk locus on chromosome 20 (rs910873 and rs1885120), with replication in two further samples (combined P < 1 x 10(-15)). The per allele odds ratio was 1.75 (1.53, 2.01), with evidence for stronger association in early-onset cases.     

Correlation of ammonia liberation and calcium deposition by the avian egg and blood ammonia levels in the laying hen

Zusammenfassung Mittels biochemischer Daten wird der Nachweis erbracht, dass im Ovidukt des Huhnes während der Schalenbildung zwar vermehrt NH₄ ⁺ freigesetzt wird, jedoch eine negative Korrelation zwischen NH₄ ⁺-Produktion und Ca⁺⁺-Abscheidung besteht.

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Supported by a training grant from the U.S. Public Health Service No. 5-T1-DE-118. We thank Dr.P. R. Tramell for his help during the initial stage of this investigation.     

Thein vitro effect of various enzymes upon the mouse ascites tumor of ehrlich

Zusammenfassung Die Virulenz von Ehrlich-Ascitestumorzellen wurde durch Inkubation mit fünf Enzymenin vitro stark herabgesetzt. Zwölf andere Enzyme hatten keine Wirkung. Die morphologischen Kriterien für Zellschädigung werden erörtert.

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This work was supported in part by a grant from the American Cancer Society (Mass. Division) and in part by grants (C-3538 and CY-4018) from the U.S. Public Health Service, National Cancer Institute.     

Methods for increasing sensitivity in immunoelectrophoresis

Résumé On décrit 2 modifications apportées à la méthode d'immunoélectrophorèse. L'une d'elles comprend l'électrophorèse dans 2 sens, aux pH divers, en milieu gélifié suivie par l'analyse immunologique, permettant une définition plus avantageuse. L'autre comprend l'électrophorèse sur un fil de rayonne ou d'acétate de cellulose suivie par l'analyse immunologique en milieu gélifié, permettant l'analyse des quantités d'antigène à partir de 3 µg.