Via The Telegraph

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The Twitter logo displayed on a smart phone Photo: PA

Scientists have developed the ultimate lie detector for social media – a system that can tell whether a tweeter is telling the truth.

The creators of the system called Pheme, named after the Greek mythological figure known for scandalous rumour, say it can judge instantly between truth and fiction in 140 characters or less.

Researchers across Europe are joining forces to analyse the truthfulness of statements that appear on social media in “real time” and hope their system will prevent scurrilous rumours and false statements from taking hold, the Times reported.

The creators believe that the system would have proved useful to the police and authorities during the London Riots of 2011. Tweeters spread false reports that animals had been released from London Zoo and landmarks such as the London Eye and Selfridges had been set on fire, which caused panic and led to police being diverted.

Kalina Bontcheva, from the University of Sheffield’s engineering department, said that the system would be able to test information quickly and trace its origins. This would enable governments, emergency services, health agencies, journalists and companies to respond to falsehoods.

Lightbeam, a firefox plugin you may want to try... or not... in order to have an idea about what it means for you and your privacy to browse the Web. Nowadays, this is something obvious and well spread that the 'free' Web is now a very old chimera. Web drills you the same way one drills for oil.

Collusion is a similar plugin for the Chrome Web browser.

Enjoy!

Via The Guardian, Via Samantha Besson

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NSA spying, as revealed by the whistleblower Edward Snowden, may cause countries to create separate networks and break up the experts, according to experts. Photograph: Alex Milan Tracy/NurPhoto/NurPhoto/Corbis

The vast scale of online surveillance revealed by Edward Snowden is leading to the breakup of the internet as countries scramble to protect private or commercially sensitive emails and phone records from UK and US security services, according to experts and academics.

They say moves by countries, such as Brazil and Germany, to encourage regional online traffic to be routed locally rather than through the US are likely to be the first steps in a fundamental shift in the way the internet works. The change could potentially hinder economic growth.

"States may have few other options than to follow in Brazil's path," said Ian Brown, from the Oxford Internet Institute. "This would be expensive, and likely to reduce the rapid rate of innovation that has driven the development of the internet to date … But if states cannot trust that their citizens' personal data – as well as sensitive commercial and government information – will not otherwise be swept up in giant surveillance operations, this may be a price they are willing to pay."

Since the Guardian's revelations about the scale of state surveillance, Brazil's government has published ambitious plans to promote Brazilian networking technology, encourage regional internet traffic to be routed locally, and is moving to set up a secure national email service.

In India, it has been reported that government employees are being advised not to use Gmail and last month, Indian diplomatic staff in London were told to use typewriters rather than computers when writing up sensitive documents.

In Germany, privacy commissioners have called for a review of whether Europe's internet traffic can be kept within the EU – and by implication out of the reach of British and US spies.

Surveillance dominated last week's Internet Governance Forum 2013, held in Bali. The forum is a UN body that brings together more than 1,000 representatives of governments and leading experts from 111 countries to discuss the "sustainability, robustness, security, stability and development of the internet".

Debates on child protection, education and infrastructure were overshadowed by widespread concerns from delegates who said the public's trust in the internet was being undermined by reports of US and British government surveillance.

Lynn St Amour, the Internet Society's chief executive, condemned government surveillance as "interfering with the privacy of citizens".

Johan Hallenborg, Sweden's foreign ministry representative, proposed that countries introduce a new constitutional framework to protect digital privacy, human rights and to reinforce the rule of law.

Meanwhile, the Internet Corporation for Assigned Names and Numbers – which is partly responsible for the infrastructure of the internet – last week voiced "strong concern over the undermining of the trust and confidence of internet users globally due to recent revelations of pervasive monitoring and surveillance".

Daniel Castro, a senior analyst at the Information Technology & Innovation Foundation in Washington, said the Snowden revelations were pushing the internet towards a tipping point with huge ramifications for the way online communications worked.

"We are certainly getting pushed towards this cliff and it is a cliff we do not want to go over because if we go over it, I don't see how we stop. It is like a run on the bank – the system we have now works unless everyone decides it doesn't work then the whole thing collapses."

Castro said that as the scale of the UK and US surveillance operations became apparent, countries around the globe were considering laws that would attempt to keep data in-country, threatening the cloud system – where data stored by US internet firms is accessible from anywhere in the world.

He said this would have huge implications for the way large companies operated.

"What this would mean is that any multinational company suddenly has lots of extra costs. The benefits of cloud computing that have given us flexibility, scaleability and reduced costs – especially for large amounts of data – would suddenly disappear."

Large internet-based firms, such as Facebook and Yahoo, have already raised concerns about the impact of the NSA revelations on their ability to operate around the world. "The government response was, 'Oh don't worry, we're not spying on any Americans'," said Facebook founder Mark Zuckerberg. "Oh, wonderful: that's really helpful to companies trying to serve people around the world, and that's really going to inspire confidence in American internet companies."

Castro wrote a report for Itif in August predicting as much as $35bn could be lost from the US cloud computing market by 2016 if foreign clients pull out their businesses. And he said the full economic impact of the potential breakup of the internet was only just beginning to be recognised by the global business community.

"This is changing how companies are thinking about data. It used to be that the US government was the leader in helping make the world more secure but the trust in that leadership has certainly taken a hit … This is hugely problematic for the general trust in the internet and e-commerce and digital transactions."

Brown said that although a localised internet would be unlikely to prevent people in one country accessing information in another area, it may not be as quick and would probably trigger an automatic message telling the user that they were entering a section of the internet that was subject to surveillance by US or UK intelligence.

"They might see warnings when information is about to be sent to servers vulnerable to the exercise of US legal powers – as some of the Made in Germany email services that have sprung up over the summer are."

He said despite the impact on communications and economic development, a localised internet might be the only way to protect privacy even if, as some argue, a set of new international privacy laws could be agreed.

"How could such rules be verified and enforced? Unlike nuclear tests, internet surveillance cannot be detected halfway around the world."

Via aeon magazine

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In the future, most people will live in a total surveillance state – and some of us might even like it

A Banksy graffiti work in London. Photo by Cate Gillon/Getty Images

Suppose you’re walking home one night, alone, and you decide to take a shortcut through a dark alley. You make it halfway through, when suddenly you hear some drunks stumbling behind you. Some of them are shouting curses. They look large and powerful, and there are several of them. Nonetheless, you feel safe, because you know someone is watching.

You know this because you live in the future where surveillance is universal, ubiquitous and unavoidable. Governments and large corporations have spread cameras, microphones and other tracking devices all across the globe, and they also have the capacity to store and process oceans of surveillance data in real time. Big Brother not only watches your sex life, he analyses it. It sounds nightmarish — but it might be inevitable. So far, attempts to control surveillance have generally failed. We could be headed straight for the panopticon, and if recent news developments are any indication, it might not take that long to get there.

Maybe we should start preparing. And not just by wringing our hands or mounting attempts to defeat surveillance. For if there’s a chance that the panopticon is inevitable, we ought to do some hard thinking about its positive aspects. Cataloguing the downsides of mass surveillance is important, essential even. But we have a whole literature devoted to that. Instead, let’s explore its potential benefits.

The first, and most obvious, advantage of mass surveillance is a drastic reduction in crime. Indeed, this is the advantage most often put forward by surveillance proponents today. The evidence as to whether current surveillance achieves this is ambiguous; cameras, for instance, seem to have an effect on property crime, but not on incidences of violence. But today’s world is very different from a panopticon full of automatically analysed surveillance devices that leave few zones of darkness.

If calibrated properly, total surveillance might eradicate certain types of crime almost entirely. People respond well to inevitable consequences, especially those that follow swiftly on the heels of their conduct. Few would commit easily monitored crimes such as assault or breaking and entering, if it meant being handcuffed within minutes. This kind of ultra-efficient police capability would require not only sensors capable of recording crimes, but also advanced computer vision and recognition algorithms capable of detecting crimes quickly. There has been some recent progress on such algorithms, with further improvements expected. In theory, they would be able to alert the police in real time, while the crime was still ongoing. Prompt police responses would create near-perfect deterrence, and violent crime would be reduced to a few remaining incidents of overwhelming passion or extreme irrationality.

If surveillance recordings were stored for later analysis, other types of crimes could be eradicated as well, because perpetrators would fear later discovery and punishment. We could expect crimes such as low-level corruption to vanish, because bribes would become perilous (to demand or receive) for those who are constantly under watch. We would likely see a similar reduction in police brutality. There might be an initial spike in detected cases of police brutality under a total surveillance regime, as incidents that would previously have gone unnoticed came to light, but then, after a short while, the numbers would tumble. Ubiquitous video recording, mobile and otherwise, has already begun to expose such incidents.

On a smaller scale, mass surveillance would combat all kinds of abuses that currently go unreported because the abuser has power over the abused. You see this dynamic in a variety of scenarios, from the dramatic (child abuse) to the more mundane (line managers insisting on illegal, unpaid overtime). Even if the victim is too scared to report the crime, the simple fact that the recordings existed would go a long way towards equalising existing power differentials. There would be the constant risk of some auditor or analyst stumbling on the recording, and once the abused was out of the abuser’s control (grown up, in another job) they could retaliate and complain, proof in hand. The possibility of deferred vengeance would make abuse much less likely to occur in the first place.

With reduced crime, we could also expect a significant reduction in police work and, by extension, police numbers. Beyond a rapid-reaction force tasked with responding to rare crimes of passion, there would be no need to keep a large police force on hand. And there would also be no need for them to enjoy the special rights they do today. Police officers can, on mere suspicion, detain you, search your person, interrogate you, and sometimes enter your home. They can also arrest you on suspicion of vague ‘crimes’ such as ‘loitering with intent’. Our present police force is given these powers because it needs to be able to investigate. Police officers can’t be expected to know who committed what crime, and when, so they need extra powers to be able to figure this out, and still more special powers to protect themselves while they do so. But in a total-surveillance world, there would be no need for humans to have such extensive powers of investigation. For most crimes, guilt or innocence would be obvious and easy to establish from the recordings. The police’s role could be reduced to arresting specific individuals, who have violated specific laws.

If all goes well, there might be fewer laws for the police to enforce. Most countries currently have an excess of laws, criminalising all sorts of behaviour. This is only tolerated because of selective enforcement; the laws are enforced very rarely, or only against marginalised groups. But if everyone was suddenly subject to enforcement, there would have to be a mass legal repeal. When spliffs on private yachts are punished as severely as spliffs in the ghetto, you can expect the marijuana legalisation movement to gather steam. When it becomes glaringly obvious that most people simply can’t follow all the rules they’re supposed to, these rules will have to be reformed. In the end, there is a chance that mass surveillance could result in more personal freedom, not less.

The military is another arm of state power that is ripe for a surveillance-inspired shrinking. If cross-border surveillance becomes ubiquitous and effective, we could see a reduction in the $1.7 trillion that the world spends on the military each year. Previous attempts to reduce armaments have ultimately been stymied by a lack of reliable verification. Countries can never trust that their enemies aren’t cheating, and that encourages them to cheat themselves. Arms races are also made worse by a psychological phenomenon, whereby each side interprets the actions of the other as a dangerous provocation, while interpreting its own as purely defensive or reactive. With cross-border mass surveillance, countries could check that others are abiding by the rules, and that they weren’t covertly preparing for an attack. If intelligence agencies were to use all the new data to become more sophisticated observers, countries might develop a better understanding of each other. Not in the hand-holding, peace-and-love sense, but in knowing what is a genuine threat and what is bluster or posturing. Freed from fear of surprising new weapons, and surprise attacks, countries could safely shrink their militaries. And with reduced armies, we should be able to expect reduced warfare, continuing the historical trend in conflict reduction since the end of the Second World War.

Of course, these considerations pale when compared with the potential for mass surveillance to help prevent global catastrophic risks, and other huge disasters. Pandemics, to name just one example, are among the deadliest dangers facing the human race. The Black Death killed a third of Europe’s population in the 14th century and, in the early 20th century, the Spanish Flu killed off between 50 and 100 million people. In addition, smallpox buried more people than the two world wars combined. There is no reason to think that great pandemics are a thing of the past, and in fact there are reasons to think that another plague could be due soon. There is also the possibility that a pandemic could arise from synthetic biology, the human manipulation of microbes to perform specific tasks. Experts are divided as to the risks involved in this new technology, but they could be tremendous, especially if someone were to release, accidentally or malevolently, infectious agents deliberately engineered for high transmissibility and deadliness.

You can imagine how many lives would have been saved had AIDS been sniffed out by epidemiologists more swiftly

Mass surveillance could help greatly here, by catching lethal pandemics in their earliest stages, or beforehand, if we were to see one being created artificially. It could also expose lax safety standards or dangerous practices in legitimate organisations. Surveillance could allow for quicker quarantines, and more effective treatment of pandemics. Medicines and doctors could be rushed to exactly the right places, and micro-quarantines could be instituted. More dramatic measures, such as airport closures, are hard to implement on a large scale, but these quick-response tactics could be implemented narrowly and selectively. Most importantly, those infected could be rapidly informed of their condition, allowing them to seek prompt treatment.

With proper procedures and perfect surveillance, we could avoid pandemics altogether. Infections would be quickly isolated and eliminated, and eradication campaigns would be shockingly efficient. Tracking the movements and actions of those who fell ill would make it much easier to research the causes and pathology of diseases. You can imagine how many lives would have been saved had AIDS been sniffed out by epidemiologists more swiftly.

Likewise, mass surveillance could prevent the terrorist use of nukes, dirty bombs, or other futuristic weapons. Instead of blanket bans in dangerous research areas, we could allow research to proceed and use surveillance to catch bad actors and bad practices. We might even see an increase in academic freedom.

Surveillance could also be useful in smaller, more conventional disasters. Knowing where everyone in a city was at the moment an earthquake struck would make rescue services much more effective, and the more cameras around when hurricanes hit, the better. Over time, all of this footage would increase our understanding of disasters, and help us to mitigate their effects.

Indeed, there are whole new bodies of research that could emerge from the data provided by mass surveillance. Instead of formulating theories and laboriously recruiting a biased and sometimes unwilling group for testing, social scientists, economists and epidemiologists could use surveillance data to test their ideas. And they could do it from home, immediately, and have access to the world’s entire population. Many theories could be rapidly confirmed or discarded, with great benefit to society. The panopticon would be a research nirvana.

Lying and hypocrisy would become practically impossible, and one could no longer project a false image of oneself

Mass surveillance could also make our lives more convenient, by eliminating the need for passwords. The surveillance system itself could be used for identification, provided the algorithms were sufficiently effective. Instead of Mr John Smith typing in ‘passw0rd!!!’ to access his computer or ‘2345’ to access his money, the system could simply track where he was at all times, and grant him access to any computers and money he had the right to. Long security lines at airports could also be eliminated. If surveillance can detect prohibited items, then searches are a waste of time. Effective crime detection and deterrence would mean that people would have little reason to lock their cars or their doors.

Doing business in a mass surveillance society would be smoother, too. Outdoor festivals and concerts would no longer need high fences, security patrols, and intimidating warnings. They could simply replace them with clear signs along the boundary of the event, as anyone attending would be identified and billed directly. People could dash into a shop, grab what they needed, and run out, without having to wait in line or check out. The camera system would have already billed them. Drivers who crashed into parked cars would no longer need to leave a note. They’d be tracked anyway, and insurance companies would have already settled the matter by the time they returned home. Everyday human interactions would be changed in far-reaching ways. Lying and hypocrisy would become practically impossible, and one could no longer project a false image of oneself. In the realm of personal identity, there would be less place for imagination or reinvention, and more place for honesty.

Today’s intricate copyright laws could be simplified, and there would be no need for the infantilising mess of reduced functionality that is ‘Digital Rights Management’. Surveillance would render DRM completely unnecessary, meaning that anyone who purchased a song could play it anytime, on any machine, while copying it and reusing it to their heart’s content. There would be no point in restricting these uses, because the behaviour that copyrights holders object to — passing the music on to others — would be detected and tagged separately. Every time you bought a song, a book, or even a movie, you’d do so knowing that it would be with you wherever you went for the rest of your life.

The virtues and vices of surveillance are the imagined virtues and vices of small villages, which tend to be safe and neighbourly, but prejudiced and judgemental. With the whole world as the village, we can hope that the multiplicity of cultures and lifestyles would reduce a global surveillance culture’s built-in potential for prejudice and judgment. With people more trusting, and less fearful, of each other, we could become more willing to help out, more willing to take part in common projects, more pro-social and more considerate. Yes, these potential benefits aren’t the whole story on mass surveillance, and I would never argue that they outweigh the potential downsides. But if we’re headed into a future panopticon, we’d better brush up on the possible upsides. Because governments might not bestow these benefits willingly — we will have to make sure to demand them.

Via Le Monde Blog

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Couverture de "Newsweek" du 27 juillet 1970.

C'est une édition du 27 juillet 1970, du magazine américain Newsweek, titrée "La vie privée est-elle morte ?", et repérée par le Daily Beast. Dedans, un article de six pages, qui montre que les inquiétudes soulevées par les révélations sur la surveillance, par l'Agence américaine de la sécurité, des données personnelles des internautes et des communications téléphoniques ne datent pas d'hier. Même, elles apparaissent dès lors comme le dernier rebondissement masquant une tendance plus longue.

En 1970 donc, Newsweek expliquait que "durant les vingt dernières années, les Etats-Unis sont devenus (…) l'un des pays qui espionnent le plus et sont le plus soucieux de ses données dans l'histoire mondiale. Les gros commerçants, les petits commerçants, l'administration fiscale, les institutions de police, les organismes de recensement, les sociologues, les banques, les écoles, les centres médicaux, les patrons, les agences fédérales, les compagnies d'assurance (…), tous cherchent obstinément, stockent et utilisent chaque parcelle d'information qu'ils peuvent trouver sur chacun des 205 millions d'Américains, individus et groupes". Bref, "très bientôt, toute la vie et l'histoire d'une personne va être disponible en un clic sur un ordinateur. On va finir en 1984 avant d'avoir atteint cette année", prévoyait, à cette époque, un juriste américain.

>> Lire la note de Big Browser : "Le scandale de la surveillance des données personnelles booste les ventes de "1984'"

L'article énumère une série d'anecdotes où s'entrechoquent collectes de données pour la sécurité et protection de la vie privée. Par exemple, cette bibliothécaire qui a reçu une visite d'employés de l'IRS, l'agence américaine chargée des impôts, lui demandant de lui fournir les noms des "utilisateurs de matériel militant et subversif" – ouvrage sur les explosifs ou biographie du Che Guevara. Ou ce fichier de l'armée fichant les "potentiels perturbateurs ostensibles de la paix", "en plus des 7 millions de fichiers de routine" sur la loyauté ou le statut criminel des citoyens.

Le chapitre sur les écoutes téléphoniques est tout aussi parlant : les écoutes légales, "prudemment utilisées pendant la seconde guerre mondiale pour pister les espions et les saboteurs, sont devenues une pratique si banale du FBI et de la police à la fin des années 1950 qu'elles étaient menées, dit-on, contre chaque bookmaker du coin". A la suite de l'indignation de certains politiques, "le Congrès a spécifié en 1968 que le département de justice, le FBI et la police ne pouvaient pratiquer la surveillance électronique qu'avec un ordre de justice". Mais le gouvernement fédéral se réserve toujours le droit de faire des écoutes clandestines, sans ordre de justice, dans l'intérêt de la "sécurité nationale", explique Newsweek. Avant de préciser – de manière un peu incongrue, vu d'aujourd'hui : "La méfiance grandissante envers le téléphone représente la seule protection réelle de la vie privée."

En parallèle de ce vaste mouvement de collecte des données, les Américains sont devenus de plus en plus sensibles à leur droit à la protection de leur vie privée, explique l'hebdomadaire. Ce qui n'empêche pas, aujourd'hui, une majorité d'entre eux d'approuver la surveillance des communications téléphoniques, et 62 % d'estimer qu'il est important que le gouvernement fédéral enquête sur d'éventuelles menaces "terroristes", quitte à empiéter sur la vie privée, selon un sondage publié le 10 juin.

Via TAXI

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Fed up with the NSA’s infringement of privacy, an internet user by the name of Sang Mun has developed a font which cannot be read by computers.

Called ‘ZXX’, which is used by the Library of Congress to state that a document has “no linguistic content”, the font is garbled up in such a way that computers with Optical Character Recognition (OCR) will not be able to recognize it.

Available in four “disguises”, this font uses camouflage techniques to trick the computers of governments and corporations into thinking that no useful information can be collated from people, while remaining readable to the human eye.

The font developer urges users to fight against this infringement of privacy, and has made this font free for all users on his website.

Via PCWorld

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NEC is working on a suitcase-sized DNA analyzer, which it says will be able to process samples at the scene of a crime or disaster in as little as 25 minutes.

The company said it aims to launch the device globally in 2014, and sell it for around 10 million yen, or US$120,000. It will output samples that can be quickly matched via the growing number of DNA databases worldwide.

“At first we will target investigative organizations, like police,” said spokeswoman Marita Takahashi. “We will also push its use on victims of natural disasters, to quickly match samples from siblings and parents.”

NEC hopes to use research and software from its mature fingerprint and facial matching technology, which have been deployed in everyday devices such as smartphones and ATMs.

The company said that the need for cheaper and faster DNA testing became clear in the aftermath of the Tohoku earthquake and tsunami that devasted much of Japan’s northeast coastline last year, when authorities performed nearly 20,000 samples.

NEC pointed to growing databases such as CODIS (Combined DNA Index System) in the U.S. and a Japanese database of DNA samples.

The company said it is aiming to make the device usable for those with minimal training, requiring only a cotton swab or small blood sample. NEC aims to make a device that weighs around 35 kilograms, measuring 850 millimeters by 552mm by 240mm, about the size of a large suitcase. The unit will run on a 12V power source.

NEC said it will be able to complete three-stage analysis process using a “lab on a chip” process, a term for for technology that recreates lab processes on chip-sized components. The basic steps for analysis include extracting DNA from samples, amplifying the DNA for analysis, and then separating out the different DNA strands.

The current version of the analyzer takes about an hour for all three tasks, and NEC said it aims to lower that to 25 minutes.

NEC it is carrying out the development of the analyzer together with partners including Promega, a U.S. biotechnology firm, and is testing it with a police science research institute in Japan.

Via BBC

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Governments around the world made nearly 21,000 requests for access to Google data in the first six months of this year, according to the search engine.

Its Transparency Reportindicates government surveillance of online lives is rising sharply.

The US government made the most demands, asking for details 7,969 times in the first six months of 2012.

Turkey topped the list for requests to remove content.

Government 'bellwether'

Google, in common with other technology and communication companies, regularly receives requests from government agencies and courts around the world to have access to content.

It has been publishing its Transparency Report twice a year since 2009 and has seen a steady rise in government demands for data. In its first report in 2009, it received 12,539 requests. The latest figure stands at 20,939.

"This is the sixth time we've released this data, and one trend has become clear: government surveillance is on the rise," Google said in a blog post.

The report acts as a bellwether for government behaviour around the world, a Google spokeswoman told the BBC.

"It reflects laws on the ground. For example in Turkey there are specific laws about defaming public figures whereas in Germany we get requests to remove neo-Nazi content," she said.

"And in Brazil we get a lot of requests to remove content during elections because there is a law banning parodies of candidates.

"We hope that the report will shed light on how governments interact with online services and how laws are reflected in online behaviour," she added.

The US has consistently topped the charts for data requests. France, Germany, Italy, Spain and the UK are also in the top 10.

In France and Germany it complied with fewer than half of all requests. In the UK it complied with 64% of requests and 90% of requests from the US.

Removing content

Google said the top three reasons cited by government for content removal were defamation, privacy and security.

Worldwide authorities made 1,789 requests for Google to remove content, up from 1,048 requests for the last six months of 2011.

In the period from January to June, Turkey made 501 requests for content removal.

These included 148 requests related to Mustafa Kemal Ataturk - the first president of Turkey, the current government, national identity and values.

Others included claims of pornography, hate speech and copyright.

Google has its own criteria for whether it will remove content - the request must be specific, relate to a specific web address and have come from a relevant authority.

In one example from the UK, Google received a request from police to remove 14 search results that linked to sites allegedly criticising the police and claiming individuals were involved in obscuring crimes. It did not remove the content.

Via PLOS genetics

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Abstract

Inter-individual variation in facial shape is one of the most noticeable phenotypes in humans, and it is clearly under genetic regulation; however, almost nothing is known about the genetic basis of normal human facial morphology. We therefore conducted a genome-wide association study for facial shape phenotypes in multiple discovery and replication cohorts, considering almost ten thousand individuals of European descent from several countries. Phenotyping of facial shape features was based on landmark data obtained from three-dimensional head magnetic resonance images (MRIs) and two-dimensional portrait images. We identified five independent genetic loci associated with different facial phenotypes, suggesting the involvement of five candidate genes—PRDM16, PAX3, TP63, C5orf50, and COL17A1—in the determination of the human face. Three of them have been implicated previously in vertebrate craniofacial development and disease, and the remaining two genes potentially represent novel players in the molecular networks governing facial development. Our finding at PAX3 influencing the position of the nasion replicates a recent GWAS of facial features. In addition to the reported GWA findings, we established links between common DNA variants previously associated with NSCL/P at 2p21, 8q24, 13q31, and 17q22 and normal facial-shape variations based on a candidate gene approach. Overall our study implies that DNA variants in genes essential for craniofacial development contribute with relatively small effect size to the spectrum of normal variation in human facial morphology. This observation has important consequences for future studies aiming to identify more genes involved in the human facial morphology, as well as for potential applications of DNA prediction of facial shape such as in future forensic applications.

Introduction

The morphogenesis and patterning of the face is one of the most complex events in mammalian embryogenesis. Signaling cascades initiated from both facial and neighboring tissues mediate transcriptional networks that act to direct fundamental cellular processes such as migration, proliferation, differentiation and controlled cell death. The complexity of human facial development is reflected in the high incidence of congenital craniofacial anomalies, and almost certainly underlies the vast spectrum of subtle variation that characterizes facial appearance in the human population.

Facial appearance has a strong genetic component; monozygotic (MZ) twins look more similar than dizygotic (DZ) twins or unrelated individuals. The heritability of craniofacial morphology is as high as 0.8 in twins and families [1], [2], [3]. Some craniofacial traits, such as facial height and position of the lower jaw, appear to be more heritable than others [1], [2], [3]. The general morphology of craniofacial bones is largely genetically determined and partly attributable to environmental factors [4]–[11]. Although genes have been mapped for various rare craniofacial syndromes largely inherited in Mendelian form [12], the genetic basis of normal variation in human facial shape is still poorly understood. An appreciation of the genetic basis of facial shape variation has far reaching implications for understanding the etiology of facial pathologies, the origin of major sensory organ systems, and even the evolution of vertebrates [13], [14]. In addition, it is feasible to speculate that once the majority of genetic determinants of facial morphology are understood, predicting facial appearance from DNA found at a crime scene will become useful as investigative tool in forensic case work [15]. Some externally visible human characteristics, such as eye color [16]–[18] and hair color [19], can already be inferred from a DNA sample with practically useful accuracies.

In a recent candidate gene study carried out in two independent European population samples, we investigated a potential association between risk alleles for non-syndromic cleft lip with or without cleft palate (NSCL/P) and nose width and facial width in the normal population [20]. Two NSCL/P associated single nucleotide polymorphisms (SNPs) showed association with different facial phenotypes in different populations. However, facial landmarks derived from 3-Dimensional (3D) magnetic resonance images (MRI) in one population and 2-Dimensional (2D) portrait images in the other population were not completely comparable, posing a challenge for combining phenotype data. In the present study, we focus on the MRI-based approach for capturing facial morphology since previous facial imaging studies by some of us have demonstrated that MRI-derived soft tissue landmarks represent a reliable data source [21], [22].

In geometric morphometrics, there are different ways to deal with the confounders of position and orientation of the landmark configurations, such as (1) superimposition [23], [24] that places the landmarks into a consensus reference frame; (2) deformation [25]–[27], where shape differences are described in terms of deformation fields of one object onto another; and (3) linear distances [28], [29], where Euclidean distances between landmarks instead of their coordinates are measured. Rationality and efficacy of these approaches have been reviewed and compared elsewhere [30]–[32]. We briefly compared these methods in the context of our genome-wide association study (GWAS) (see Methods section) and applied them when appropriate.

We extracted facial landmarks from 3D head MRI in 5,388 individuals of European origin from Netherlands, Australia, and Germany, and used partial Procrustes superimposition (PS) [24], [30], [33] to superimpose different sets of facial landmarks onto a consensus 3D Euclidean space. We derived 48 facial shape features from the superimposed landmarks and estimated their heritability in 79 MZ and 90 DZ Australian twin pairs. Subsequently, we conducted a series of GWAS separately for these facial shape dimensions, and attempted to replicate the identified associations in 568 Canadians of European (French) ancestry with similar 3D head MRI phenotypes and additionally sought supporting evidence in further 1,530 individuals from the UK and 2,337 from Australia for whom facial phenotypes were derived from 2D portrait images.

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The full article@PLOS genetics