Research reveals link between red hair gene and rare birthmarks

May 11, 2012, University of Bristol
Research reveals link between red hair gene and rare birthmarks

(Medical Xpress) -- New research, using data from Children of the 90s (ALSPAC) at the University of Bristol, has identified that the gene causing red hair (MC1R) is more common in children with Congenital Melanocytic Naevi (CMN), a rare form of birthmark.

The research was carried out at Great Ormond Street Hospital (GOSH) and the UCL Institute of Child Health.

CMN are rare brown or black birthmarks which cover up to 80 per cent of the area.  They can vary in size and number, and can occur anywhere on the body. The incidence of larger or multiple lesions is approximately 1 in 20,000 new births per year. 

In the study published in the Journal of Investigative Dermatology, 166 people with CMN had their hair and eye colour recorded, and had their blood checked for the MC1R gene.  Results were compared to a local control group of 60 unrelated children and with 300 UK children without CMN from Children of the 90s.

The changes in the gene causing red hair (MC1R) were found to be more common in children with CMN, and in their families, than those without the condition.  In particular, children with CMN were much more likely to carry two copies of those changes, one from each parent.   Researchers also identified that certain changes in the gene are associated with children having much more severe skin changes, for example a larger CMN, indicating that the MC1R genotype influences the development of these birthmarks when the child is in the womb.

Dr Veronica Kinsler runs the paediatric pigmentary service at GOSH and has a weekly clinic for CMN.  She explains: “CMN is a very rare condition, and currently there are no good medical treatments for it.  In order to find treatments we need to understand what caused the birthmarks to occur in the first place, and therefore we are investigating the genetics of CMN. 

“This study shows an association between the gene that causes red hair and CMN.  The gene seems to make CMN more likely to develop, particularly if the child has inherited a copy of the gene from each of their parents.  Also some variants of the gene are associated with the CMN being larger.

“If you have red hair in your family, these findings should not worry you, as changes in the red hair gene are common, but large CMN are very rare.  So the changes do not cause the CMN to happen, but just increase the risk.”

CMN birthmarks can also be associated with moles in the brain, and more rarely with skin cancer (melanoma).  Doctors at Great Ormond Street Hospital regularly check patients for signs of any developments, for example by carrying out MRI scans of the brain.  But there is a need for improved treatments for such complications relating to CMN.   

Dr Veronica Kinsler explains: “The genetic studies we are doing are also helping to identify which children are at highest risk of these complications.  In particular, carrying the changes in MC1R which cause red hair is already known to be associated with melanoma, so this may partly explain why children with CMN have an increased risk of skin cancer.  But again, I’d like to stress that families with red hair should not worry as CMN is very rare.”

An unexpected finding in the study was that the same changes in the gene that  were associated with larger birthmarks also seem to have a more general effect on foetal growth – babies with those particular changes had a significantly higher birth weight than those without.  This was confirmed in both the CMN group and in the control group from of the 90s. 

Dr Kinsler says:  “The effect on birthweight was a complete surprise.  We looked for it when we noticed that certain changes in the gene were associated with the CMN being larger, and wondered if they affected growth more generally.  However, it is important to stress that this is a relatively small study for looking at birthweight, and we are now checking this finding in a much larger group of people without CMN.”

Doctors at Great Ormond Street Hospital estimate there are only around 3,000 individuals with severe CMN at the moment in the UK, with lots more who are mildly affected.

The research was funded by the Wellcome Trust and Caring Matters Now charity. 

Explore further: FDA announces new limits on high-dose simvastatin (Zocor)

More information: Germline melanocortin-1-receptor (MC1R) genotype is associated with severity of cutaneous phenotype in congenital melanocytic naevi – a role for MC1R in human fetal development. Journal of Investigative Dermatology advance online publication, 10 May 2012.

Related Stories

FDA announces new limits on high-dose simvastatin (Zocor)

June 9, 2011
The United States Food and Drug Administration (FDA) today announced new limitations to the use of high-dose simvastatin, due to the increased risk of muscle pain and weakness (myopathy) and in rare cases, kidney damage and ...

Majority of Americans think they pay more toward social security and medicare than they do

June 29, 2011
According to a newly released Stony Brook Poll conducted in association with Left Right Research, a Long Island based Marketing Research supplier, more than 81 percent of approximately 7,000 people surveyed believe that they ...

Social norms for obesity learned in childhood

December 19, 2011
Newcastle University research studying siblings has revealed that childhood experience and genes may set your weight rather than social networks later in life. 

Caesarean link to respiratory infections in babies

November 1, 2011
(Medical Xpress) -- A new study from Perth’s Telethon Institute for Child Health Research has found that babies born by elective caesarean are more likely to be admitted to hospital with the serious respiratory infection, ...

Scientists resolve how chromosomal mix-ups lead to tumors

March 29, 2012
(Medical Xpress) -- A new study by scientists from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), part of the National Institutes of Health, resolves longstanding questions about ...

Recommended for you

Epigenetics study helps focus search for autism risk factors

January 16, 2018
Scientists have long tried to pin down the causes of autism spectrum disorder. Recent studies have expanded the search for genetic links from identifying genes toward epigenetics, the study of factors that control gene expression ...

Study advances gene therapy for glaucoma

January 16, 2018
While testing genes to treat glaucoma by reducing pressure inside the eye, University of Wisconsin-Madison scientists stumbled onto a problem: They had trouble getting efficient gene delivery to the cells that act like drains ...

Group recreates DNA of man who died in 1827 despite having no body to work with

January 16, 2018
An international team of researchers led by a group with deCODE Genetics, a biopharmaceutical company in Iceland, has partly recreated the DNA of a man who died in 1827, despite having no body to take tissue samples from. ...

The surprising role of gene architecture in cell fate decisions

January 16, 2018
Scientists read the code of life—the genome—as a sequence of letters, but now researchers have also started exploring its three-dimensional organisation. In a paper published in Nature Genetics, an interdisciplinary research ...

How incurable mitochondrial diseases strike previously unaffected families

January 15, 2018
Researchers have shown for the first time how children can inherit a severe - potentially fatal - mitochondrial disease from a healthy mother. The study, led by researchers from the MRC Mitochondrial Biology Unit at the University ...

Genes that aid spinal cord healing in lamprey also present in humans

January 15, 2018
Many of the genes involved in natural repair of the injured spinal cord of the lamprey are also active in the repair of the peripheral nervous system in mammals, according to a study by a collaborative group of scientists ...


Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.