Genomic privacy and detecting participation in genetic research

Summaries of newsworthy papers in Nature and Nature research journals including Cell Biology: Inner workings of extending cell life, Genetics: Reprogramming gene plays a role in cancer and Genetics: Variants associated with bone mineral density


For papers that will be published online on 04 October 2009. This press release is copyrighted to the Nature journals mentioned below.

This press release contains:

· Summaries of newsworthy papers:
Genetics: Genomic privacy and detecting participation in genetic research
Cell Biology: Inner workings of extending cell life
Genetics: Reprogramming gene plays a role in cancer
Genetics: Variants associated with bone mineral density
· Mention of papers to be published at the same time with the same embargo
· Geographical listing of authors

PDFs of all the papers mentioned on this release can be found in the relevant journal’s section of Press contacts for the Nature journals are listed at the end of this release.

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NOTE: Once a paper is published, the digital object identifier (DOI) number can be used to retrieve the abstract and full text from the journal web site (abstracts are available to everyone, full text is available only to subscribers). To do this, add the DOI to the following URL: (For example, For more information about DOIs and Advance Online Publication, see

HYPE: We take great care not to hype the papers mentioned on our press releases, but are sometimes accused of doing so. If you ever consider that a story has been hyped, please do not hesitate to contact us at [email protected], citing the specific example.


[1] Genetics: Genomic privacy and detecting participation in genetic research

DOI: 10.1038/ng.455

The ability to detect an individual’s participation within a large scale genetic association study was proven in the past year, raising privacy concerns and leading to higher restrictions on such experimental datasets. A new study this week in Nature Genetics reports an improved method to infer membership from these datasets, and suggests increased restrictions may be needed.

Kevin Jacobs and colleagues used an extension of a method originally reported in 2008 to detect an individual or close relative’s membership within a genome-wide association study. The new method shows increased power to detect an individual’s participation within the study, and extends the range of summary statistics that may allow such detection. They are also able to predict whether the individual was a case - with the relevant disease - or control in the study. While the authors estimate the lower bound of the power to detect membership from these datasets using this method, other methods may be able to show higher power. This study highlights the importance of revisiting privacy concerns over how much information from these studies should be made publicly available.

Author contact:
Kevin Jacobs (National Cancer Institute, Frederick, MD, USA)
Please contact this author through the NCI Office of Media Relations:
Tel: +1 301 496 6641; E-mail: [email protected]

[2] Cell Biology: Inner workings of extending cell life

DOI: 10.1038/ncb1975

Administrating a molecule that naturally decreases in concentration during human aging significantly extends the cellular lifespan. This finding, published online in Nature Cell Biology, sheds light on how to extend longevity in specific cells.

Aging is associated with various biochemical changes in mammalian cells, such as the decrease of the molecule spermidine within cells. Spermidine is known to be necessary for cell growth and maturation; however it was unclear if its decrease was the cause or consequence of aging.

Frank Madeo and colleagues found that administered spermidine to flies, worms and yeast extended the lifespan of these organisms. Similarly, they found that addition of spermidine to culture medium prolonged the lifespan of human immune cells. The findings of the team suggest that spermidine has this effect on cells and ultimately organisms because it provides an alternative mechanism for cellular "clean up". Instead of a damaged cell initiating programmed cell death, spermidine sets in motion a pathway that discards unnecessary and potentially damaging debris within the cell itself.

Author contact:
Frank Madeo (University of Graz, Austria)
Tel: +43 316 380 8878; E-mail: [email protected]

[3] Genetics: Reprogramming gene plays a role in cancer

DOI: 10.1038/ng.465

The gene SOX2 is activated in lung and esophageal squamous cell carcinomas (SCC), according to a study published online in this week’s Nature Genetics. This discovery highlights a new link between stem cells and cancer.

SCC is a type of cancer that can form in several organs, including the skin, mouth, esophagus, urinary bladder, prostate, and lung. About 25-30% of lung cancers are SCC of the lung and are linked to smoking. SCC of the esophagus occurs in less than 10% of all esophageal cancers and is associated with both smoking and alcohol consumption.

Matthew Meyerson and colleagues find that the gene SOX2 is over-activated in both lung and esophageal SCC. SOX2 is an important gene for esophagus and tracheal development, and is also important in reprogramming mature cells to pluripotent stem cells.

Author contact:
Matthew Meyerson (Dana-Farber Cancer Institute, Boston, MA, USA)
Tel: +1 617 632 4768; E-mail: [email protected]

[4] Genetics: Variants associated with bone mineral density

DOI: 10.1038/ng.446

Thirteen new genetic loci are associated with bone mineral density, according to a new study published online in this week’s Nature Genetics.

Bone mineral density is an important clinical indicator for osteoporosis, a disease in which bone mass and bone strength are reduced and risk of bone fracture is increased. Millions of people are affected around the world, though women are more likely to develop osteoporosis than men.

Fernando Rivadeneira and colleagues identify 13 new genetic loci that are associated with bone mineral density. Many of the loci are located within or close to genes involved in bone metabolism.

Author contact:
Fernando Rivadeneira (Erasmus Medical Center, Rotterdam, Netherlands)
Tel: +31 10 7043484; E-mail: [email protected]

Items from other Nature journals to be published online at the same time and with the same embargo:


[5] Sensitive multiplexed analysis of kinase activities and activity-based kinase identification
DOI: 10.1038/nbt.1566

[6] Automated design of synthetic ribosome binding sites to control protein expression
DOI: 10.1038/nbt.1568

[7] Induction of protein-protein interactions in live cells using light
DOI: 10.1038/nbt.1569


[8] KLF17 is a negative regulator of epithelial-mesenchymal transition and metastasis in breast cancer
DOI: 10.1038/ncb1974

[9] Transcriptional repression of p53 by parkin and impairment by mutations associated with autosomal recessive juvenile Parkinson’s disease
DOI: 10.1038/ncb1981


[10] Emergent bistability by a growth-modulating positive feedback circuit
DOI: 10.1038/nchembio.218

[11] Dynamic refolding of IFN-gamma mRNA enables it to function as PKR activator and translation template
DOI: 10.1038/nchembio.234


[12] Vesicular perylene dye nanocapsules as supramolecular fluorescent pH sensor systems
DOI: 10.1038/nchem.368


[13] T (Brachyury) gene duplication confers major susceptibility to familial chordoma
DOI: 10.1038/ng.454

[14] DNA methylation protects hematopoietic stem cell multipotency from myeloerythroid restriction
DOI: 10.1038/ng.463


[15] Generation of a strong magnetic field using uniform heat flux at the surface of the core
DOI: 10.1038/ngeo643


[16] Toll-like receptor 2 on inflammatory monocytes induces type I interferon in response to viral but not bacterial ligands
DOI: 10.1038/ni.1792

[17] An endogenous peptide positively selects and augments the activation and survival of peripheral CD4+ T cells
DOI: 10.1038/ni.1796

[18] An endogenous positively selecting peptide enhances mature T cell responses and becomes an autoantigen in the absence of microRNA miR-181a
DOI: 10.1038/ni.1797


[19] Development of universal antidotes to control aptamer activity
DOI: 10.1038/nm.1990


[20] Engineering splicing factors with designed specificities
DOI: 10.1038/nmeth.1379

[21] High-resolution, long-term characterization of bacterial motility using optical tweezers
DOI: 10.1038/nmeth.1380


[22] Behavioral choice by presynaptic inhibition of tactile sensory terminals
DOI: 10.1038/nn.2400

[23] Basal forebrain activation enhances cortical coding of natural scenes
DOI: 10.1038/nn.2402

[24] Persistent neural activity in the human frontal cortex when maintaining space that is off the map
DOI: 10.1038/nn.2406

[25] GSK-3 is a master regulator of neural progenitor homeostasis
DOI: 10.1038/nn.2408


[26] Effect of covalent bonding on magnetism and the missing neutron intensity in copper oxide compounds
DOI: 10.1038/nphys1405

[27] Elastically driven anisotropic percolation in electronic phase-separated manganites
DOI: 10.1038/nphys1419

[28] Room-temperature ferromagnetism in graphite driven by two-dimensional networks of point defects
DOI: 10.1038/nphys1399

[29] Emergent crystallinity and frustration with Bose-Einstein condensates in multimode cavities
DOI: 10.1038/nphys1403


The following list of places refers to the whereabouts of authors on the papers numbered in this release. The listing may be for an author's main affiliation, or for a place where they are working temporarily. Please see the PDF of the paper for full details.

Nedlands : 4

Graz: 2
Salzburg: 2
Vienna: 2

Sao Paolo: 3

Hamilton: 25
Montreal: 4
Toronto: 3, 25

Prague: 28

Paris: 9
Valbonne : 9
Villejuif : 2

Berlin: 14
Freiburg: 14
Tubingen: 3
Wurzburg: 12

Crete: 2
Iaonnina: 4

Reykjavik: 4

Jerusalem: 11

Monterotondo: 14
Turin: 8

Niigata: 9
Tokyo: 5, 15

Amsterdam: 26
Eindhoven: 28
Nijmegen: 28
Rotterdam: 4

Bergen: 3

Lund: 14

Basel: 2

Cambridge: 4
Didcot: 26
Edinburgh: 4
Leeds: 13
London: 4, 9, 26
Oxford: 14
St Andrews: 2

Phoenix: 1
Berkeley: 16, 23
La Jolla: 22
Los Angeles: 15
Pasadena: 19
San Francisco: 2, 6, 16
Stanford: 7, 18
Urbana: 21, 29
Baltimore: 9
Bethesda: 1, 13
Frederick: 1
Gaithersburg: 1
Boston: 1, 3, 4, 5, 9, 13
Cambridge: 3, 5, 14
Danvers: 5
Ann Arbor: 3
St Louis: 17
New Jersey
Princeton: 7, 17
Rahway: 5
New York
New York: 3, 24
Upton: 26
North Carolina
Chapel Hill: 20, 25
Durham: 10, 13, 18, 19
Research Triangle: 19, 20
Philadelphia: 3, 8
Knoxville: 27
Oak Ridge: 27
Dallas: 3
Houston: 9


For media inquiries relating to embargo policy for all the Nature Research Journals:

Rachel Twinn (Nature London)
Tel: +44 20 7843 4658; E-mail: [email protected]

Neda Afsarmanesh (Nature New York)
Tel: +1 212 726 9231; E-mail: [email protected]

Ruth Francis (Head of Press, Nature, London)
Tel: +44 20 7843 4562; E-mail: [email protected]

For media inquiries relating to editorial content/policy for the Nature Research Journals, please contact the journals individually:

Nature Biotechnology (New York)
Craig Mak
Tel: +1 212 726 9284; E-mail: [email protected]

Nature Cell Biology (London)
Bernd Pulverer
Tel: +44 20 7843 4892; E-mail: [email protected]

Nature Chemical Biology (Boston)
Andrea Garvey
Tel: +1 617 475 9241, E-mail: [email protected]

Nature Chemistry (London)
Stuart Cantrill
Tel: +44 20 7014 4018; E-mail: [email protected]

Nature Genetics (New York)
Myles Axton
Tel: +1 212 726 9324; E-mail: [email protected]

Nature Geoscience (London)
Heike Langenberg
Tel: +44 20 7843 4042; E-mail: [email protected]

Nature Immunology (New York)
Laurie Dempsey
Tel: +1 212 726 9372; E-mail: [email protected]

Nature Medicine (New York)
Juan Carlos Lopez
Tel: +1 212 726 9325; E-mail: [email protected]

Nature Methods (New York)
Hugh Ash
Tel: +1 212 726 9627; E-mail: [email protected]

Nature Neuroscience (New York)
Kalyani Narasimhan
Tel: +1 212 726 9319; E-mail: [email protected]

Nature Physics (London)
Alison Wright
Tel: +44 20 7843 4555; E-mail: [email protected]

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Published: 04 Oct 2009

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