Mindfulness may be effective for treating lower back pain

Wednesday March 23 2016

Mindfulness makes use of some yoga techniques

"Meditation could ease the agony of back pain, a study suggests," the Daily Mirror reports.

A US study compared a technique called mindfulness-based stress reduction (MBSR) with usual care and cognitive behavioural therapy (CBT) for long-term non-specific lower back pain. The term "non-specific" refers to when there are no obvious causes, such as a slipped disc.

MBSR is based on yoga methods, such as meditation, yoga postures and an increased self-awareness of your thought patterns.

Participants were split into three groups. Those allocated to either MBSR or CBT were given eight weekly training sessions. Follow-up was performed after six months and 12 months.

At both of these time points, MBSR significantly improved functional disability and pain compared with usual care – but not when compared with CBT. Both MBSR and CBT were as effective as each other.

Access to NHS-funded CBT can be limited in some parts of the country. A practical advantage of MBSR is that you can learn more about it without a therapist, such as by watching an online video or reading a training manual.

Despite the media headlines, the study did not compare these therapies with painkillers directly – only "usual care" which, frustratingly, was not further described.

Nor do the findings suggest that people with identified causes for their back pain – such as a slipped disc, trapped nerve or inflammatory disease – should just meditate and it'll all go away. These conditions would need investigation and treatment appropriate to the underlying cause. 

Where did the story come from?

The study was carried out by researchers from the Group Health Research Institute in the US and the University of Washington.

It was funded by the National Center for Complementary and Integrative Health of the US National Institutes of Health.

The study was published in the peer-reviewed journal JAMA on an open access basis, so it is free to read online.

The Mail Online's headlines could lead to a few misinterpretations. MBSR was not the "most effective" treatment – it was equal to CBT. It was also not compared directly with painkillers, and did not include back pain with any identified cause. 

Similarly, the Daily Mirror overstates the finding by claiming that, "A simple exercise could cure back pain". While improvements in mobility and reported pain are always welcomed, this does not amount to a permanent cure.  

What kind of research was this?

This randomised controlled trial (RCT) aimed to examine the effectiveness of MBSR for chronic lower back pain compared with the widely used CBT, which is a talking therapy.

As the researchers say, chronic lower back pain is a leading cause of disability in western countries. There is a need for effective treatments that can be widely accessible to the large number of people affected. 

Psychological factors are believed to play an important role in chronic pain, and CBT has often been used in the treatment of chronic lower back pain.

This trial aimed to see whether the mind-body approach of MBSR, which aims to increase awareness and acceptance of discomfort and difficult emotions, could help people – particularly when access to CBT may be limited. An RCT is the best way to assess the effectiveness of a new intervention.  

What did the research involve?

The study recruited people from the community who were aged 20 to 70 years old and had non-specific lower back pain lasting for more than three months – that is, pain that does not have a specific cause, such as a slipped disc, inflammatory disease or cancer.

They were told they would be randomised to receive one of "two different widely used pain self-management programmes that have been found helpful for reducing pain and making it easier to carry out daily activities, or to continued usual care plus $50".

A total of 342 participants with an average age of 49 were enrolled and then randomised to the three groups: MBSR, CBT, or usual care.

The two interventions lasted for eight weeks, with two-hour group sessions every week, though the MBSR group also had the option of a longer six-hour retreat.

They were delivered according to a manual, and participants in both groups received workbooks and instructions for home practise.

In brief, the interventions included meditation, a body scan (designed to increase awareness of your physical body), and yoga in MBSR.

In CBT, the intervention included education about pain, relationship to thoughts, and instructions on ways to change this pattern.

Follow-up of all participants was performed by assessors blinded to the treatment group at four and eight weeks, then six and 12 months.

The validated Roland Disability Questionnaire (RDQ) was used to assess functional limitation as a result of back pain. The main outcome was the percentage of people with a 30% or greater improvement from study start.

Other (secondary) outcomes examined included depression and anxiety symptoms, and pain intensity.  

What were the basic results?

The main outcome of 30% functional improvement was achieved by 60.5% of the MBSR group, 57.7% of the CBT group, and 44.1% of the usual care group at six months. These proportions had increased to 68.6%, 58.7% and 48.6%, respectively, at 12 months.

Significantly more people saw improvement in the MBSR group compared with usual care at both six and 12 months – but not at the earlier assessments at four and eight weeks.

Meanwhile, significantly more people in the CBT group had improved at eight weeks and six months compared with usual care, but not four weeks or 12 months.

Similarly, significantly more people in the MBSR group had meaningful improvement in pain at six and 12 months compared with usual care (CBT only at six months).

Looking at the actual disability and pain scores, both MBSR and CBT gave significant score improvement compared with usual care at eight weeks, six months and 12 months.

There was no significant difference between MBSR and CBT at any time point. 

How did the researchers interpret the results?

The researchers concluded that, "Among adults with chronic low back pain, treatment with MBSR or CBT, compared with usual care, resulted in greater improvement in back pain and functional limitations at 26 weeks, with no significant differences in outcomes between MBSR and CBT. These findings suggest that MBSR may be an effective treatment option for patients with chronic low back pain." 

Conclusion

This RCT aimed to review the alternative mind-body therapy of MBSR for the treatment of chronic lower back pain.

The trial has many strengths, including:

• delivery of both interventions by trained and experienced professionals
• long follow-up period
• blinded assessment of outcomes using validated scales
• adequate sample size – prior calculations were performed to ensure sufficient people were recruited to make the outcome assessment reliable
• intention to treat analysis – where all people were assessed in their assigned groups, regardless of whether they completed the intervention or follow-up

There are a few key points to bear in mind when reviewing this study and the media's interpretation of it:

• The study does not show that MBSR is better than CBT for chronic lower back pain – there was no significant difference between the two groups for improvement in function or pain.
• Nor does the study show that MBSR is better than painkillers, as the media suggests – yes, MBSR was better than usual care, but the content of this is not specified in the study. We don't know what care this may have involved; use of painkillers is only assumed.
• "Lower back pain" could encompass a variety of conditions. This study only included people with the non-specific lower back pain, sometimes called mechanical back pain. This is when no cause can be identified. It does not include people with prolapsed ("slipped") disc and nerve compression, or people with other causes for their back pain, including traumatic, infective, inflammatory, or cancer causes. Therefore, it should not be taken to mean that people with serious causes for their back pain only need to meditate and it'll all go away. 

With these limitations in mind, the study suggests that the mind-body therapy of MBSR could be another psychological therapy for chronic lower back pain that is just effective as the widely used therapy of CBT.

Read more about how mindfulness can improve your mental wellbeing. 

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Claims that man flu 'really exists' are unsupported

Wednesday March 23 2016

Men may be more vulnerable to infection

"Man flu really does exist," reports the Mail Online in a massive leap from the results of a small study that didn't look at flu at all.

The study actually looked at why women are more likely to have autoimmune conditions such as lupus. Autoimmune conditions are when the immune system wrongly starts attacking healthy tissue.

So, despite the suggestive headline, the strength of women's immune systems versus men's in combatting the flu was not part of the research.

The small laboratory study examined the expression of genes in white blood cells – part of the immune system – from human blood samples and in mice.

Immune differences between the sexes have some logic as many immune genes are on the X chromosome. As women have two copies and men only have one, you might expect differences, but normally one of the two copies in women is "silenced". This study found sometimes the second copy in women is not fully deactivated in white blood cells.

The researchers thought this might be why women are more likely to have an overactive immune system, as occurs in autoimmune disorders. For example, 9 out of 10 cases of lupus – an autoimmune condition that can damage cells, tissue and organs – occur in women.

The research raises as many questions as it answers, such as whether similar results would be seen in studies involving more people, and other autoimmune disorders than the ones studied here.  

Where did the story come from?

The study was carried out by researchers from the University of Pennsylvania and was funded by the McCabe research foundation, the Pennsylvania Department of Health, the Lupus Foundation, and the US National Institutes of Health.

It was published in the peer-reviewed journal, Proceedings of the National Academy of Sciences (PNAS).

It's a shame the Mail Online decided to shoehorn the results of an interesting study into a lazy cliché about man flu.

Vulnerability to the flu virus was not investigated in this piece of research. It also did not find that men have "weaker bodies" or that they "can't cope with bugs that a woman's more powerful immune system could shrug off". The research was performed in a laboratory setting using human and mouse cells. 

What kind of research was this?

This laboratory study aimed to figure out why women are more prone to autoimmune disorders.

Autoimmune disorders occur when the body's immune system wrongly attacks healthy cells and tissues. Examples include rheumatoid arthritis, which is three times more common in women than men, and systemic lupus erythematosis (SLE), of which around 90% of cases occur in women.

Many immunity-related genes are located on the X chromosome. As women have two X chromosomes – one from their mother and one from their father – one copy is naturally inactivated (or silenced) to prevent excess activity. This happens in each cell in a random manner, so could be the X from either mum or dad.

The researchers aimed to see if the silent X chromosome in women could be reactivated by exposure to a virus or in an autoimmune condition such as SLE, and whether this may account for the sex differences observed. 

What did the research involve?

Blood samples from mice, a few healthy females and males, and five children with SLE were analysed in the laboratory.

In particular, the researchers looked at white blood cells called B and T lymphocytes, which are primarily involved in fighting viral infections.

They performed a range of experiments comparing the activity of X chromosomes in lymphocytes with other cell types not involved in the immune system. They also compared results of the X chromosomes between male and female samples.  

What were the basic results?

The team showed that normal cells of the body have specific clusters of genetic material called RNA linked to X chromosome inactivation.

A big discovery was that this RNA pattern was not present in the same way in women's B and T immune cells, suggesting less X chromosome silencing was going on.

Usually, the silenced X chromosome is tightly packaged up so none of the cell's DNA reading machinery can get a look at the genes – so it can't turn the DNA code into cell actions and functions. The chromosome just sits there, bundled up, doing mostly nothing.

The team's second discovery was that in some women's white blood cells, again the B and T cells, the silenced X chromosome was less tightly packed, meaning some of the immune genes could be read by the cell machinery.

The researchers took this as a clue as to why overexpression of immune genes might occur, and why it might be more likely for women to get autoimmune diseases.

The research team also looked at the cell genetics of women with the autoimmune disease SLE to see if anything similar was going on.

They found the levels of RNA silencing were about the same as normal, but the RNA was going to different parts of the cells than expected. It was this unusual RNA localisation they thought might be linked to the overactive immune response causing this condition – however, they were unsure about this. 

How did the researchers interpret the results?

The researchers concluded that, "These findings are the first to our knowledge to link the unusual maintenance of X chromosome inactivation (the female-specific mechanism for dosage compensation) in lymphocytes to the female bias observed with enhanced immunity and autoimmune susceptibility." 

Conclusion

This small laboratory study points to specific biological mechanisms that might explain why women are more likely to suffer autoimmune disorders, such as SLE, than men.

It found the second silenced copy of the X chromosome in women can be partially reactivated and express immune-related genes, instead of staying completely silent.

Though this is a plausible reason for the overactive immune system found in SLE, it does not explain why men can also have the condition.

Also, only SLE was investigated in this study and with blood samples from just five children with the condition. It is not clear at this stage how these findings fit into the cause of SLE and whether similar mechanisms are at play for other autoimmune disorders.

There are other nuances in the results that mean this biological mechanism is not clear cut. For example, the researchers found the X chromosome silencing was affected by whether the immune cell was inactive (waiting around to fight an infection) or active (actively fighting infection by multiplying, producing antibodies, and calling on other parts of the immune system to join the party).

The results suggested that in inactive immune cells – those lazing about waiting for action – the silenced X chromosome was in a state of potential or partial reactivation, but when the cell was activated – and the fight was actually on – the silencing mechanism kicked in a little stronger to suppress the X more fully. These subtleties need a lot more investigation to pin down exactly what is going on.

While the study highlighted previous research, which found women may have stronger immune systems than men, the ability of the immune system to fight the flu was not investigated here.  

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Pushy or rude patients 'more likely' to be misdiagnosed

Thursday March 17 2016

Doctors have feelings too

"'Difficult' patients are more likely to get the wrong diagnosis," The Daily Telegraph reports.

A Dutch study suggests that patients who are aggressive or argumentative may lead doctors to lose focus when trying to come to a diagnosis.

The study included more than 60 young doctors. They didn't see actual patients, but they reviewed six different consultation scenarios as laid out in a booklet. The scenarios were written to reflect certain "difficult patient archetypes", such as patients who demand more treatment, are aggressive, or who question their doctor’s competence.

They were asked to make the diagnosis and rate the patient's likeability. The researchers found that when faced with the more "difficult" patients, a mistake in diagnosis was significantly more likely.

The main limitation is that we cannot be sure whether this study design reflects real clinical practice. The use of scenarios in booklets can’t really be compared to the effect of a real patient who the doctor can speak to themselves.

The results shouldn't suggest that we all return to the paternalistic "doctor knows best" deferential attitude common in previous generations. There is nothing wrong with expressing concerns or asking about alternative treatment or diagnostic options.

There is an important difference between being assertive and being rude – doctors have feelings too. 

Where did the story come from?

The study was carried out by researchers from Erasmus University, Erasumus Medical Center, and Admiraal de Ruyter Hospital, all in The Netherlands. No funding was provided for this study and no competing interests have been declared. 

The study was published in the peer-reviewed medical journal BMJ Quality and Safety.

The findings of this study have been reported accurately in the UK media. However, it should have been made clearer that these results are based on booklets containing scenarios and not real doctor-patient interaction.

What kind of research was this?

This experimental study aimed to study the effects of difficult patient behaviour on diagnostic accuracy in the general practice consulting room. 

However, it is difficult to model the real repercussions of a "pushy" patient in the consulting room and the effect this may have on the doctor. This study assessed this by asking doctors to review written patient scenarios in a booklet.

It could have been more useful to assess this more realistically by using live patient actors for the doctors to consult with.

What did the research involve?

Researchers recruited doctors from family practices in Rotterdam.

Six clinical situations were prepared in booklets to model behaviours of hypothetical pushy patients in the consulting room. These were as follows:

• frequent demander
• aggressive patient
• patient who questions his doctor's competence
• a patient who ignores his doctor's advice
• a patient who has low expectations of his doctor's support
• a patient who presents herself as utterly helpless

Doctors were required to diagnose simple and complex conditions. These were:

The first three of this list were considered simple cases and the last three complex.

Doctors each received a booklet containing the six clinical situations: three presented as difficult and three as neutral. Different versions of the booklets were prepared with a different order and version of cases, then distributed at random. Doctors were asked to carry out the following three tasks:

• Reading the case, then writing down the most likely diagnosis as fast as possible while maintaining accuracy.
• Reflecting on the cases, writing down the diagnosis previously given and listing the findings in the description that support the diagnosis, those that do not, and the findings they would expect in a true diagnosis.
• The patient was then rated on a likability scale.

Diagnostic accuracy was evaluated by considering the confirmed diagnosis, which was scored (by a diagnostic accuracy score) as correct, partially correct or incorrect (scored as 1, 0.5 or 0 points, respectively). If the core diagnosis was mentioned, this was considered a correct diagnosis, and partially correct when the core diagnosis was not given, but an element of the condition was mentioned.

What were the basic results?

A total of 63 doctors were assessed in this study. The findings of this research were that the accuracy of diagnosis was significantly lower for difficult patients than neutral patients (diagnostic accuracy score 0.54 versus 0.64).

Simple cases were more accurately diagnosed than complex ones. All diagnostic accuracy scores increased after reflection, regardless of case complexity and of patient behaviours (Overall difficult versus neutral, 0.60 vs 0.68). Amount of time needed to diagnose the case was similar across all situations and, as might be expected, the average likability ratings were lower for difficult than for neutral patient cases.

How did the researchers interpret the results?

The researchers conclude that, "Disruptive behaviours displayed by patients seem to induce doctors to make diagnostic errors. Interestingly, the confrontation with difficult patients does however not cause the doctor to spend less time on such case. Time can therefore not be considered an intermediary between the way the patient is perceived, his or her likability and diagnostic performance."

Conclusion

This study aimed to investigate the effect of difficult patient behaviour on diagnostic accuracy in the general practice consulting room. 

The findings suggested that when faced with difficult patients, a doctor is more likely to make a mistake in diagnosis; however, with a little time to reflect, more accurate diagnoses are made.

The main limitation is that we cannot be sure whether this study reflects real clinical practice. The use of text-based situations can’t really be compared to the effect of a real patient in the consulting room, who the doctor can speak to themselves. In reality, what may seem to be more challenging consultations may be resolved by finding out the patient's concerns and discussing them, for example. Patients will always have valid health concerns or anxieties underlying any behaviour that may be perceived as "difficult" or "pushy". What may have been more useful is to use a study design where the GP actually consults with a live patient actor.

The research included a small number of doctors who were nearing the end of their GP training, but may not have the same level of experience at diagnosing or managing more challenging patients or consultations, compared with someone who has been practicing for some time.

That being said, the findings are in agreement with other research which suggests that "disruptive" or "difficult" patients fuel negative emotions in the consulting room.

Media reports suggest that more research is on the way, looking at further scenarios. This will be valuable, as it is important that all doctors are aware of their emotional responses to different patient presentations. This may further our understanding of the effect this might have on the accuracy of their diagnosis, with a knock-on effect on patient safety.

Remember: you have every right to change your GP, and you don't have to give a reason for your decision. Read more about changing your GP. 

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Quitting smoking overnight 'better than cutting down gradually'

Tuesday March 15 2016

Nicotine replacement therapy can help relieve cigarette cravings

"Want to quit smoking? Forget trying to cut down, if you really want to kick the habit 'going cold turkey is the best option'," is the headline from the Mail Online.

The news website reports on a trial by UK-based researchers that aimed to assess whether it's better to stop smoking gradually or abruptly. 

The researchers included almost 700 people and randomly assigned them to a gradual or abrupt stop in cigarette use. After four weeks, 39.2% of participants that gradually stopped smoking were still abstinent, compared with 49.0% that stopped smoking abruptly.

Both groups had access to nicotine replacement therapy (NRT), such as patches or gum, after the quit day. At six months, the proportion of participants that still abstained from smoking had reduced to 15.5% in the gradual group and 22.0% in the abrupt group.

The findings of this trial show promise, but going "cold turkey", as the headline suggests, may not be for everyone.

That said, setting a designated "quit day" can be useful, as you can put into place "strategies" that can help you improve your chances of quitting.

These include getting adequate stocks of NRT, or even something as simple as finding something to do with your hands – some people find worry beads very useful. 

You can find your nearest NHS Stop Smoking Service on the NHS Smokefree website, or you can call the Smokefree National Helpline to speak to a trained adviser on 0300 123 1044. 

Where did the story come from?

The study was carried out by researchers from the University of Oxford, the University of Birmingham, and University College London. Funding was provided by the British Heart Foundation.

It was published in the peer-reviewed journal, Annals of Internal Medicine.

The research has been presented accurately in the media. However, there has been no mention of the reduction in people remaining abstinent at six months, or whether this is a good method for long-term smoking cessation.

The press coverage does explain that for those who find it hard to stop abruptly, it is still better to attempt to cut down on smoking than do nothing at all.

Many of the reports include the phrase "going cold turkey". This is unhelpful, as it implies that people who stop abruptly have no treatment to help them cope with nicotine withdrawal symptoms.

The truth is that NRT can significantly reduce cigarette cravings. Evidence suggests people who quit using NRT are more likely to succeed than people who try to quit using willpower alone.  

What kind of research was this?

This was a randomised controlled trial that aimed to assess the success of stopping smoking by a gradual method, compared with an abrupt stop.

This study design is best for examining such methods, as in theory the groups should be balanced for potential confounders and the differences in outcomes are the result of the intervention.   

What did the research involve?

The researchers included adult smokers who were addicted to tobacco but willing to quit.

Addiction was defined as any of the following:

• smoking at least 15 cigarettes a day
• smoking at least 12.5g of loose-leaf tobacco (a standard small pack of rolling tobacco)
• end expiratory carbon monoxide concentration of at least 15 parts per million (ppm) – this is a measure of how much carbon monoxide a person exhales when breathing

Potential participants were excluded if they were:

• currently receiving smoking cessation treatment
• not able to take NRT
• participating in other medical trials
• not able to meet the demands of the trial

Participants were randomly assigned to stop smoking abruptly or reduce smoking gradually by 75% in the two weeks before quitting.

Participants from both groups were asked to set a "quit day" two weeks after joining the trial. The gradual group were to reduce their smoking by 50% in the first week and to 25% by the end of the second week. Participants in the abrupt group were asked to smoke as normal and not reduce between joining the trial and quit day.

The gradual-cessation group received short-acting NRT devices (such as gum or spray) as well as longer-acting nicotine patches before the quit day. The abrupt-cessation group only received nicotine patches before the quit day. Both groups had access to behavioural counselling, nicotine patches, and short-acting NRT after the quit day.

Participant characteristics were collected at the start of the study. These included:

• smoking history
• nicotine dependence
• preference for gradual or abrupt cessation

At follow-up sessions in the clinic, assessments were made of the amount smoked and measured cotinine in the saliva – used as a marker for exposure to tobacco smoke – and exhaled carbon monoxide concentrations. Tobacco withdrawal symptoms were also measured using a standardised mood and physical symptoms scale.

The researchers measured abstinence from smoking four weeks and six months after the quit day. The analysis used assumes that any participants lost to follow-up were smokers.  

What were the basic results?

From June 2009 to December 2011, there were a total of 697 participants included in the study – 355 assigned to the abrupt group and 342 to gradual.

After four weeks, 39.2% of participants that gradually stopped smoking were still abstinent (95% confidence interval [CI] 34.0% to 44.4%) compared with 49.0% of those that stopped smoking abruptly (95% CI 43.8% to 54.2%).

This means an increase of about 20% in quit rates for those stopping abruptly (relative risk [RR] 0.80, 95% CI 0.66 to 0.93).

The longer-term findings saw that at six months, the proportion of participants that still abstained from smoking had reduced to 15.5% in the gradual-cessation group and 22.0% in the abrupt-cessation group. 

How did the researchers interpret the results?

The researchers concluded that, "Quitting smoking abruptly is more likely to lead to lasting abstinence than cutting down first, even for smokers who initially prefer to quit by gradual reduction." 

Conclusion

This was a well-designed randomised controlled trial which aimed to assess whether the best method to stop smoking is by gradual reduction or an abrupt stop.

Researchers found more people in the abrupt-cessation group continued to abstain from smoking at four weeks and six months, compared with those who gradually reduced smoking.

The trial's strengths include the design, methods and analysis used. The researchers have made attempts to minimise the risk of bias, where possible.

The population sample is large, which allows for greater certainty that the findings are not purely down to chance. The follow-up period of six months allowed researchers to assess the longer-term effect of cessation methods.

As the authors state, limitations are that the sample is not representative of the UK's ethnic mix, as non-white groups formed only 6% of the trial population.

This trial addresses a major public health issue. There has been a large amount of research designed to find the best and most effective methods of smoking cessation, particularly longer-term methods.

The idea that suddenly stopping smoking may be more effective than gradually cutting down, in terms of quitting, seems plausible.

If we can consider nicotine addiction like a plaster on the skin, pulling it right off in one sudden move, rather than slowly and painfully peeling it off, could be more effective.

But when it comes to stopping smoking, one size does not fit all. It may be necessary to seek help and support from a Stop Smoking Service or GP, who can tailor a quitting method to your needs.

Find out the six simple steps you can take to quit smoking.

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No cure for grey hair

Wednesday March 2 2016

A gene that turns you grey has been found by scientists

"A cure to dye for … the end of grey hair is in sight," says The Daily Telegraph.

Several other media outlets have also reported enthusiastically about the discovery of a gene for grey hair, and how this could pave the way for new treatments to prevent – or reverse – greying.

The stories are a based on a study that analysed the DNA sequence of more than 6,000 people from Latin America to try to identify genetic markers associated with hair features, such as greying and balding. 

The researchers found 18 genetic markers associated with facial or head hair, 10 of which had not previously been linked to hair traits.

However, though these markers were associated with the colour, texture, density and distribution of hair, we don't know whether they have a direct influence on these traits.

It is likely that many different genetic markers and associated genes affect our hair, and it is too early to herald a cure for grey hair based on the findings of this study alone.

Right now there's nothing we can do to alter the genetic make-up of our hair. Even if the genetics were fully understood, other factors, such as age, contribute to hair turning grey

Where did the story come from?

The study was carried out by researchers from the University of London, Universidad de Oviedo in Spain, and other international institutions.

It was funded by the Leverhulme Trust, Universidad de Antioquia in Colombia, Ministerio de Economia y Competitividad and Instituto de Salud Carlos III in Spain, and Banco Santander, through its Santander Universities Global Division.

The study was published in the peer-reviewed scientific journal, Nature Communications. It's available to read online for free.

The media gave wide and varying coverage of this research. Most of the reporting focused on the discovery of a gene for grey hair and the possibility of new products being developed to halt greying.

The study's other findings – for example, on facial hair density and distribution – were mostly mentioned in passing, if at all.

What kind of research was this?

This was a genome-wide association study, a type of case control study. It aimed to look at the genetic variations associated with head and facial hair features, such as greyness and balding. 

Genome-wide association (GWA) studies involve using genetic material collected from large numbers of people.

Researchers can then scan specific single letter variations in the DNA to try to identify those associated with particular diseases or characteristics.   

It is well known there is great variation among humans in the colour and distribution of their body hair. Head hair appearance is highly heritable and shows distinct geographic variation between populations.

For example, variation in hair colour is mostly a feature of western European populations, and straight hair is not found in most African populations.

This study aimed to further our understanding of the genetic basis of this variation.

What did the research involve?

The study involved identifying genetic associations for hair characteristics in a Latin American population.

The researchers included a sample of 6,630 men and women from Brazil, Colombia, Chile, Mexico, and Peru.

They recorded the scalp hair features of the participants, such as hair colour, curliness and balding. They also looked at facial hair characteristics, such as beard, eyebrow and monobrow thickness.

They then analysed the genetic material obtained from blood samples, looking at around 700,000 single letter variations in the DNA sequence, called single nucleotide polymorphisms (SNPs).

The researchers looked at which hair traits were associated with each other, as well as age, gender and ancestry. They then identified those DNA variations with the most association with different hair traits.

They looked at the position of these DNA variations and what genes were nearby, as these genes might be responsible for the links seen.

They also looked at what the genes did to see how they might be able to affect hair. They estimated European, African and Native American ancestry in the study population.

What were the basic results?

The researchers found links between certain pairs of traits:

• beard density and eyebrow density – including having a monobrow
• beard density and balding
• beard density and hair greying
• hair greying and balding

Looking at the effect of age and gender, age was significantly associated with hair greying – this link was particularly strong – as well as balding, beard distribution and eyebrow thickness, as might be expected.

Gender was found to be linked with both hair colour and balding. European ancestry was linked with hair colour.

The researchers identified 18 single letter variations in the DNA sequence associated with hair features, including 10 that had not been linked to these traits before.

The newly identified DNA variations included some for greying hair, facial hair distribution and density, and the position and distribution of scalp hair. 

The DNA variation associated with hair greying was previously found to be linked to pigmentation of the skin, hair and eyes.

It lies within a gene called IRF4 in a region that does not include instructions for making protein, but the variant might influence how active the gene is.

In particular, one of the DNA variations associated with scalp hair shape was found to lie in the PRSS53 gene and was predicted to affect the enzyme this gene produces. The enzyme is found in the outer root sheath of the hair follicle.

The presence of the DNA variation altered the way the cells processed and secreted it. This suggests this DNA variation could have a direct influence on the shape and distribution of hair on the scalp.

How did the researchers interpret the results?

The researchers concluded that, "The analyses presented here have enabled us to expand substantially the set of gene regions known to impact on variation in human head hair appearance."

Conclusion

This study identified 18 DNA variations associated with hair characteristics like greying and beard and scalp hair density in a large Latin American sample.

These types of studies are valuable in being able to examine the DNA sequence of thousands of people, and identify sites within DNA that may be associated with the presence of diseases or other characteristics.

This approach is generally used where many different genes – as well as environmental factors – are thought to contribute to a trait.

However, though many DNA variations may be associated with a trait, they don't always have a direct effect on gene activity. As such, each individual study is unlikely to provide the whole answer.

There may be other DNA variations associated with hair characteristics this study hasn't identified. In particular, given that this study looked at a Latin American population, studies of other populations may find other DNA variations and associated genes.

There is nothing we can do to alter our hair trait genetics at present. Much more research is needed for researchers to fully understand the genetics of hair greying, and possibly start to develop treatments based on this.

Don't forget, our age plays a huge part in hair greying, and any potential treatments may not be able to combat this factor.

While the research is of interest in understanding the genetics of hair, it has no current practical implications for anyone wanting to banish their grey hair. A cure for grey hair is not yet in sight.

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from NHS Choices: Behind the headlines http://ift.tt/1TonwEA