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Science 19/12/2016

The science of Santa Claus

Genotyping Father Christmas

The sharp clack of the letterbox startled the old man from his breakfast reverie, staring vacantly out of the window at the frosty scene after a punishing night shift. It was all getting a bit much at his age, he thought, hefting himself out of the chair and toddling over to the doormat.

A single envelope lay face down, exuding formality. It was a bit late in the day for one of those awful charity begging letters that always turn up this time of year, clogging the postbox and providing useful kindling for the fire. Another price rise from the bloody energy company? Or maybe a nice Christmas present from the Premium Bonds? He tore it open and pulled out a small sheaf of papers covered in letters and numbers, like some kind of coded message. On top was a covering letter decked with a logo in the shape of a stylised snowflake.

Thank you for taking part in our Peoples of the North Study! We’ve now analysed DNA from thousands of volunteers like you, and the genetic data will make a big difference to our understanding of health and disease in our region.  

Delving into his memory, he vaguely remembered spitting into a tube back in the summer and posting it off to the local university. It had been the wife’s idea. Ever since she got into family history she’d been pestering him for information about his ancestors and he couldn’t fob her off any longer. Given the unusual circumstances of his parentage, a family tree wasn’t ever likely to turn up. A genetic test had seemed like the next best thing at the time. He headed back to the table and climbed onto the chair. Draining his tea and tamping some baccy down into his pipe, he began to read.

"Given the unusual circumstances of his parentage, a family tree wasn’t ever likely to turn up"

We’re pleased to share your individual results with you, as we noticed several unusual variations in your genome that you may find interesting. We have broken these down into a number of areas.

Physical traits:

Weight: You carry a genetic variation in a gene called FTO known as the A allele. People carrying this variation are more likely to overeat and be overweight or obese. 

Well, that’s one out of one so far, he thought, poking his wobbly belly under the table. Perhaps the wife would finally accept that it was ‘in his genes’ rather than all those mince pies he’d been snacking on to get through the long nights at work.

Height: Our analysis suggests you have a fault in a gene called ORC1, which is associated with a rare condition called primordial dwarfism. Some of the smallest people in the world have this genetic change. 

Interesting – another hit. He swung his legs in the ample space under the chair and took a drag on the pipe, thinking that maybe there might be something in all this genes business after all. Tiny size was a positive advantage in his line of work – all those tight spaces! –  but it was a little strange to see the explanation in stark black and white. 

Hair: You have a genetic variation near the KITLG gene which is associated with blond hair in people of European descent. We have also identified variants associated with premature greying (IRF4) as well as variations linked to PRSS53 (luxuriant, curly hair), FOXL2 (bushy eyebrows) and EDAR (the ability to grow a full, bushy beard). However, you do not carry variations in EDA2R or GRID1 that have been linked to premature male pattern baldness.

Eyes: You carry a genetic variation near the OCA2 gene which is found in people with blue eyes. You may be interested to know that all blue-eyed humans share this version of the gene, which came from just one person who lived at least 7,000 years ago.

One bushy eyebrow kicked upwards towards his snow-white curls. 7,000 years, eh? He ran a hand through his thick, curly white beard. Interesting enough, but so far there wasn’t much they’d told him that he couldn’t have found out by looking in the mirror.

Face: The variations in your DCHS2, RUNX2, GLI3 and PAX1 genes indicate that you probably have a compact facial structure, with a very small, upturned nose that is more likely to be rounded rather than pointy. Furthermore, we have identified a genetic polymorphism in between the genes HLA-DRA and BTNL2 which is associated with an increased risk of developing the condition rosacea. This leads to reddening of the nose and cheeks, and can cause burning and itching.

Now, this stuff was more useful. He’d been pestering the doctor for ages about those red patches and had just been told to put on more sunscreen when he was working outside. Something to Google later anyway. 

"Ah, those scientists – what would they make of you, eh, Rudolph?"

Psychological traits: Alcoholism: You carry a version of a gene called GABRG3 that has been linked to alcoholism, which influences the movement of a chemical called GABA in the brain. This is a statistical correlation, and even people who are teetotal may still carry this genetic variation.

Teetotal? He laughed to himself. Fat chance of that with all the booze hanging around at work. Anyone would end up an alcoholic with that kind of drinking culture. Still, another good excuse to tell the wife when he rolled in pissed again.

Altruism: A small study has shown that people who carry a particular variation in the COMT gene, which is involved in the metabolism of the chemical dopamine in the brain, are more likely to be altruistic. 

Humour: You carry a genetic variation in a gene called 5-HTTLPR, which is found frequently in people who are more likely show positive expressions, such as laughing and smiling. This gene is involved in the metabolism of serotonin, the so-called ‘happy hormone’.

Another hearty chuckle at this one. You’d have to laugh if you saw some of those awful begging letters, but the scientists were right – deep down he was a kind-hearted old fool, and his charity work had always been such an important part of his life. 

Health: We have identified signs of damage in your DNA resulting from X-ray exposure. This could be the result of frequent medical X-rays, but is also seen in people who take frequent long-haul flights, due to increased radiation exposure in the upper atmosphere. This may increase the risk of cancer.

Smoking: You carry a variation in a gene called CHRNA that is found in people who are more likely to be heavy tobacco smokers. In turn, this increases the likelihood of developing lung cancer.

Longevity: Your version of the FOXO3A gene is associated with longevity, and is commonly found in centenarians around the world. 

Win some, lose some he thought, taking another drag on his pipe and puffing a wreath of smoke up towards the low ceiling. He’d made it this far without succumbing to the Big C, so it was unlikely to get him now. 

Ethnicity and ancestry: We have been unable to trace any groups of people that you may be related to in this region. This may be because you have immigrated to the area recently from a distant country, or because we do not hold any information about similar families in our databases. We plan to carry out a more detailed analysis of your DNA and run it against international genome databases, and will inform you of our findings in due course.

Ha! Good luck with that, he chuckled, eyes twinkling at the idea of some hapless researcher poring over his peculiar genes and drawing a blank. It should be enough to stop the wife badgering him for a bloody family tree anyway.  

The old man sighed and folded up the papers, pushing them back into the envelope and propping it against the teapot. He was tired. The night shift was too much for someone his age but none of the juniors seemed to have the stature to take over, so to speak. Hopping down from the chair, he walked back over to the door, pulled on a pair of shiny leather boots, and headed out towards the stables with a bucket of oats.

The small herd was restless and hungry, nudging each other out of the way as they pushed their furry, doe-eyed heads over the stable door, breath steaming into the cold air. As usual, his favourite was right at the front of the queue.

“Ah, those scientists – what would they make of you, eh, Rudolph?” He murmured, stroking the snuffling beast on its glowing red nose. “What would they make of you?”

Kat Arney is a science writer and broadcaster. She has just published her first book, Herding Hemingway's Cats, about how our genes work.